Publications by authors named "Ayushi Sahay"

30 Publications

  • Page 1 of 1

Comparative Assessment of Digital Pathology Systems for Primary Diagnosis.

J Pathol Inform 2021 9;12:25. Epub 2021 Jun 9.

Department of Pathology, Tata Memorial Hospital, Homi Bhabha National Institute, Mumbai, Maharashtra, India.

Background: Despite increasing interest in whole-slide imaging (WSI) over optical microscopy (OM), limited information on comparative assessment of various digital pathology systems (DPSs) is available.

Materials And Methods: A comprehensive evaluation was undertaken to investigate the technical performance-assessment and diagnostic accuracy of four DPSs with an objective to establish the noninferiority of WSI over OM and find out the best possible DPS for clinical workflow.

Results: A total of 2376 digital images, 15,775 image reads (OM - 3171 + WSI - 12,404), and 6100 diagnostic reads (OM - 1245, WSI - 4855) were generated across four DPSs (coded as DPS: 1, 2, 3, and 4) using a total 240 cases (604 slides). Onsite technical evaluation revealed successful scan rate: DPS3 < DPS2 < DPS4 < DPS1; mean scanning time: DPS4 < DPS1 < DPS2 < DPS3; and average storage space: DPS3 < DPS2 < DPS1 < DPS4. Overall diagnostic accuracy, when compared with the reference standard for OM and WSI, was 95.44% (including 2.48% minor and 2.08% major discordances) and 93.32% (including 4.28% minor and 2.4% major discordances), respectively. The difference between the clinically significant discordances by WSI versus OM was 0.32%. Major discordances were observed mostly using DPS4 and least in DPS1; however, the difference was statistically insignificant. Almost perfect (κ ≥ 0.8)/substantial (κ = 0.6-0.8) inter/intra-observer agreement between WSI and OM was observed for all specimen types, except cytology. Overall image quality was best for DPS1 followed by DPS4. Mean digital artifact rate was 6.8% (163/2376 digital images) and maximum artifacts were noted in DPS2 ( = 77) followed by DPS3 ( = 36). Most pathologists preferred viewing software of DPS1 and DPS2.

Conclusion: WSI was noninferior to OM for all specimen types, except for cytology. Each DPS has its own pros and cons; however, DPS1 closely emulated the real-world clinical environment. This evaluation is intended to provide a roadmap to pathologists for the selection of the appropriate DPSs while adopting WSI.
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http://dx.doi.org/10.4103/jpi.jpi_94_20DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8356707PMC
June 2021

Endolymphatic sac tumor: single-institution series of seven cases with updated review of literature.

Eur Arch Otorhinolaryngol 2021 Aug 19. Epub 2021 Aug 19.

Department of Radiation Oncology, Tata Memorial Hospital (TMH)/Advanced Centre for Treatment Education and Research in Cancer (ACTREC), Tata Memorial Centre, Homi Bhabha National Institute (HBNI), Kharghar, Mumbai, 410210, India.

Background: Endolymphatic sac tumour (ELST) is a rare low-grade locally aggressive neoplasm arising from the endolymphatic duct or sac. It presents mostly with vestibulo-cochlear symptoms either sporadically or as part of von Hippel-Lindau (VHL) syndrome. Micro-neurosurgical excision remains the cornerstone of therapy with the role of radiotherapy (RT) being controversial. This is a clinico-pathological analysis of consecutive ELST patients presenting to a single-institution in India.

Methods: Neuropathology database of a tertiary-care comprehensive cancer centre was searched electronically to identify consecutive patients with histopathological diagnosis of ELST registered at the institute over last one decade. Data regarding demographic profile, clinical presentation, histopathological features, treatment details and outcomes were retrieved from electronic medical records for this retrospective analysis.

Results: Electronic search identified seven unique patients with biopsy-proven ELST registered at the institute between 2009 and 2020. Median age of the study cohort was 39 years (range 24-65 years) with strong male predilection (5:2 ratio) and left-sided preponderance (71%). Most common presenting symptoms were hearing loss (86%) and earache (71%) on affected side followed by headache (43%). All patients underwent maximal safe resection at initial diagnosis and were followed-up closely with periodic surveillance imaging. Two patients underwent salvage RT using high-precision conformal techniques at recurrence/progression.

Conclusion: ELST is a rare low-grade locally aggressive neoplasm that arises generally as part of VHL syndrome or sometimes sporadically. Gross total resection provides the best chance of cure with RT being reserved for unresectable disease, large residue, medical inoperability, or as salvage therapy for recurrent/progressive tumor.
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http://dx.doi.org/10.1007/s00405-021-07047-2DOI Listing
August 2021

Brain FET PET tumor-to-white mater ratio to differentiate recurrence from post-treatment changes in high-grade gliomas.

J Neuroimaging 2021 Aug 13. Epub 2021 Aug 13.

Department of Nuclear Medicine and Molecular Imaging, Tata Memorial Hospital, Homi Bhabha National Institute, Mumbai, India.

Background And Purpose: Highergrade glial neoplasms undergo standard treatment with surgery, radiotherapy, and alkylating agents. There is often a clinical/neuroimaging dilemma in the post-treatment setting to differentiate disease recurrence from treatment-related changes. FET (fluoro-ethyl-tyrosine) PET has emerged as a molecular imaging modality for cases where MR imaging is inconclusive. This study aims to develop a cutoff on FET PET for differentiating true recurrence from post-treatment changes.

Methods: We retrospectively analyzed72 patientswith post-treatment grade 3 or 4 brain gliomas. Five to six mCi of F-FET was injected and static imaging of the brain was performed at 20 min. A tumor-to-white matter (T/Wm) ratio was used as semiquantitative parameter. A T/Wm cutoff of 2.5 was used for image interpretation. Imaging findings were confirmed by either histopathologic diagnosis in a multidisciplinary joint clinic or based on follow-up of clinical and neuroimaging findings.

Results: Forty-one of 72 patients (57%) showed recurrent disease on FET PET. Thirty-five of them were confirmed to have tumor recurrence; six patients showed post-treatment changes. Thirty-one of 72 patients (43%) showed post-treatment changes on FET PET; 27 were confirmed as post-treatment change and four patients had tumor recurrence on subsequent MR imaging. An optimum T/Wm cutoff of 2.65 was derived based on receiver operating characteristic analysis with a sensitivity of 80% and specificity of 87.5%.

Conclusion: Static FET PET can be used as problem-solving imaging modality with a T/Wm cutoff of 2.65 to differentiate late recurrence from post-treatment changes in grade 3 or 4 brain gliomas with equivocal MR features.
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http://dx.doi.org/10.1111/jon.12914DOI Listing
August 2021

Unusual Variant of Breast Cancer Presenting With Pituitary Symptoms Detected on 68Ga-DOTATATE PET/CT.

Clin Nucl Med 2021 Jun 25. Epub 2021 Jun 25.

From the Departments of Nuclear Medicine and Molecular Imaging Pathology, Tata Memorial Center, Homi Bhabha National Institute, Mumbai, India.

Abstract: Carcinoma of breast with neuroendocrine differentiation is an extremely rare entity, especially in male population. Although the "garden variety" of male breast cancers is often metastatic at presentation, with an aggressive course, there is hardly any literature about neuroendocrine variants. We report a case of a 57-year-old man who had pituitary symptoms, which on 68Ga-DOTANOC PET/CT imaging turned out to be a metastatic lesion, with somatostatin expressing primary in breast and other sites, with histopathological confirmation of neuroendocrine differentiation in breast cancer.
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http://dx.doi.org/10.1097/RLU.0000000000003768DOI Listing
June 2021

Primary mediastinal germ cell tumours with high prevalence of somatic malignancy: An experience from a single tertiary care oncology centre.

Ann Diagn Pathol 2021 Aug 26;53:151763. Epub 2021 May 26.

Department of Thoracic Surgery, Tata Memorial Hospital, Homi Bhabha National Institute, Mumbai, Maharashtra, India.

Background: Primary mediastinal germ tumours (PMGCT) constitute, a mere 3-4% of all germ cell tumours (GCT). Although they account for approximately 16% of mediastinal tumours in adults and 19-25% in children as per western literature, there is hardly any large series on PMGCT reported from the Indian subcontinent.

Design: We have retrospectively analysed clinicopathological features of 98 cases of PMGCT diagnosed over 10 years (2010-2019) from a tertiary-care oncology centre.

Results: The study group (n = 98) comprised predominantly of males (n = 92) (M:F ratio-15:1), with an age range between 3 months to 57 years (median: 25 years). The tumours were predominantly located in the anterior mediastinum (n = 96). Broadly, Non-seminomatous germ cell tumours (NSGCT) were more common (n = 73, 74%) compared to pure seminoma (n = 25, 26%). Mixed NSGCT was the most common histological subtype (n = 30) followed by pure mature teratoma (n = 18), pure Yolk sac tumour (n = 13), mixed seminoma and NSGCT (n = 5), pure immature teratoma (n = 3) and GCT; NOS (n = 4). Interestingly, all female patients had exclusive teratomas. Nine cases revealed secondary somatic malignancy (5 carcinomas and 4 sarcomas). The majority of patients received neoadjuvant chemotherapy (n = 71). Surgical excision was performed in 60 patients. Follow up was available in 68 patients. NSGCT showed a poor prognosis as compared to seminoma (p value = 0.03) and tumours with somatic malignancies had a more aggressive clinical course.

Conclusion: PMGCT was seen predominantly in young adult males and somatic malignancies were noted in as high as 9% of cases. Patient with somatic malignancy have aggressive clinical course, hence, extensive sampling and careful histopathological evaluation are recommended for the identification and definitive characterization.
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http://dx.doi.org/10.1016/j.anndiagpath.2021.151763DOI Listing
August 2021

Remote Reporting from Home for Primary Diagnosis in Surgical Pathology: A Tertiary Oncology Center Experience during the COVID-19 Pandemic.

J Pathol Inform 2021 8;12. Epub 2021 Jan 8.

Department of Pathology, Tata Memorial Centre, Homi Bhabha National Institute, Mumbai, Maharashtra, India.

Background: The COVID-19 pandemic accelerated the widespread adoption of digital pathology (DP) for primary diagnosis in surgical pathology. This paradigm shift is likely to influence how we function routinely in the postpandemic era. We present learnings from early adoption of DP for a live digital sign-out from home in a risk-mitigated environment.

Materials And Methods: We aimed to validate DP for remote reporting from home in a real-time environment and evaluate the parameters influencing the efficiency of a digital workflow. Eighteen pathologists prospectively validated DP for remote use on 567 biopsy cases including 616 individual parts from 7 subspecialties over a duration from March 21, 2020, to June 30, 2020. The slides were digitized using Roche Ventana DP200 whole-slide scanner and reported from respective homes in a risk-mitigated environment.

Results: Following re-review of glass slides, there was no major discordance and 1.2% ( = 7/567) minor discordance. The deferral rate was 4.5%. All pathologists reported from their respective homes from laptops with an average network speed of 20 megabits per second.

Conclusion: We successfully validated and adopted a digital workflow for remote reporting with available resources and were able to provide our patients, an undisrupted access to subspecialty expertise during these unprecedented times.
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http://dx.doi.org/10.4103/jpi.jpi_72_20DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8112339PMC
January 2021

Clinical Audit of Survival Outcomes and Prognostic Factors in Adolescents and Adults with Medulloblastoma.

J Adolesc Young Adult Oncol 2021 Apr 23. Epub 2021 Apr 23.

Department of Radiation Oncology and ACTREC/TMH, Tata Memorial Center, Homi Bhabha National Institute (HBNI), Mumbai, India.

Medulloblastomas, comprising 20%-25% of all primary brain tumors in children are much rarer in adulthood. Disease biology varies substantially across different age groups; however, owing to rarity, adults with medulloblastoma are traditionally treated using pediatric protocols. This is a retrospective audit of adolescent and adult medulloblastoma from a comprehensive cancer center. Data regarding demography, clinical presentation, imaging characteristics, histopathological features, molecular profiling, risk stratification, treatment details, and outcomes were retrieved from medical records. All time-to-event outcomes were analyzed using Kaplan-Meier method and compared with the log-rank test. Univariate and multivariate analysis of relevant prognostic factors was done with value <0.05 being considered statistically significant. A total of 162 patients ≥15 years of age with medulloblastoma were included. The median age was 25 years (range: 15-59 years) with leptomeningeal metastases seen in 31 (19%) patients at initial diagnosis. Following surgery, patients were treated with appropriate risk-stratified adjuvant therapy comprising of craniospinal irradiation plus boost with or without systemic chemotherapy. At a median follow-up of 50 months, 5-year Kaplan-Meier estimates of progression-free survival and overall survival were 53.5% and 59.5%, respectively. The addition of adjuvant systemic chemotherapy did not impact upon survival in standard-risk medulloblastoma. High-risk (HR) disease and anaplastic histology emerged as significant and independent predictors of poor survival on multivariate analysis. Medulloblastoma is a rare tumor in adolescents and adults with key differences in disease biology and resultant outcomes compared with the pediatric population. Contemporary management comprising maximal safe resection followed by appropriate risk-stratified adjuvant therapy provides acceptable survival outcomes.
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http://dx.doi.org/10.1089/jayao.2021.0034DOI Listing
April 2021

Promoter Mutation in Adult Glioblastomas: It's Correlation with Other Relevant Molecular Markers.

Neurol India 2021 Jan-Feb;69(1):126-134

Department of Radiation Oncology, Tata Memorial Hospital and ACTREC, Tata Memorial Centre, Homi Bhabha National Institute, Parel, Mumbai, Maharashtra, India.

Background: Telomerase reverse transcriptase promoter (pTERT) mutation is a dominant altered telomere maintenance mechanism in primary glioblastomas (GBMs).

Objective: The aim of this study was to correlate pTERT mutations with clinico-histological features and other molecular markers (p53 protein-expression, ATRX protein-expression, IDH mutations, EGFR gene amplification and MGMT methylation) in adult GBMs.

Materials And Methods: Evaluated for histological patterns, p53 and ATRX protein expression by immunohistochemistry (IHC), IDH mutations by IHC followed by sequencing in IHC negative cases, EGFR gene amplification by fluorescence in situ hybridization, MGMT promoter methylation by methylation-specific PCR and pTERT mutation by sequencing.

Results: A total of 155 adult supratentorial GBMs [age-range 20-80 years] formed study cohort. 15.6% were IDH1R132 mutated, none were IDH2R172 mutated and 27% were EGFR amplified. 43% were MGMT methylated and were more common with IDH-mutation (mIDH) than EGFR amplification. 90% of mIDH (but no EGFR amplified) cases showed ATRX-loss. 43.5% were pTERT mutated (C228T was the commonest type) and were mutually exclusive with ATRX-loss. 14% of mIDH and 42% of EGFR amplified cases showed pTERT mutation, the latter was more commonly pMGMT unmethylated (63.6%).

Conclusions: 43.5% of the GBMs showed pTERT mutation (C228T was commonest; 72%). pTERT mutations were mutually exclusive with ATRX protein loss, more commonly associated with IDH wild type and EGFR amplified GBMs.
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http://dx.doi.org/10.4103/0028-3886.310096DOI Listing
June 2021

Safety and efficacy of concurrent carboplatin during full-dose craniospinal irradiation for high-risk/metastatic medulloblastoma in a resource-limited setting.

Pediatr Blood Cancer 2021 May 3;68(5):e28925. Epub 2021 Feb 3.

Department of Pediatric Oncology, Tata Memorial Centre, Homi Bhabha National Institute (HBNI), Mumbai, Maharashtra, India.

Purpose: To assess the safety and efficacy of concurrent carboplatin during craniospinal irradiation (CSI) in high-risk/metastatic medulloblastoma defined as either residual tumor >1.5 cm or leptomeningeal metastases.

Methods: This single-arm combined prospective (2005-2011) and retrospective (2011-2019) study was undertaken at a tertiary care cancer center in India. Following surgery, patients with newly diagnosed high-risk/metastatic medulloblastoma received concurrent carboplatin (35 mg/m ) for 15 days (day 1 to day 15) during CSI plus posterior fossa/tumor bed boost, followed by six cycles of standard adjuvant chemotherapy.

Results: All 97 patients completed their planned course of radiotherapy without interruptions, except for two (2.1%) patients who had brief gaps due to treatment-related toxicity. Grade 3-4 anemia, neutropenia, thrombocytopenia, and febrile neutropenia were seen in four (4.1%), 41 (42.2%) 21 (21.6%), and 18 (18.6%) patients, necessitating packed cell transfusion, granulocyte colony-stimulating factor, and platelet support in five (5.1%), 41 (42.2%), and five (5.1%) patients, respectively, during the concurrent phase. Following myelorecovery, 92 (94.9%) patients completed the planned six cycles of standard adjuvant systemic chemotherapy. There were no treatment-related deaths during the concurrent chemo-radiotherapy phase, while three (3.1%) toxic deaths were ascribed to adjuvant chemotherapy-related complications. At a median follow-up of 82 months, the 5-year Kaplan-Meier estimates of progression-free survival and overall survival were 60.2% and 62.1%, respectively. On univariate analysis, leptomeningeal metastases (M0/M1 vs. M2/M3) and histological subtype (large cell/anaplastic vs. others) emerged as significant prognostic factors for survival.

Conclusion: Addition of concurrent carboplatin to RT as radiosensitizing chemotherapy is a simple and effective way of treatment intensification in high-risk/metastatic medulloblastoma.
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http://dx.doi.org/10.1002/pbc.28925DOI Listing
May 2021

Clinico-radiological characteristics, histo-pathological features and long-term survival outcomes in central neurocytoma: A single-institutional audit.

J Clin Neurosci 2021 Feb 24;84:91-96. Epub 2020 Dec 24.

Department of Radiation Oncology, Advanced Centre for Treatment Research & Education in Cancer (ACTREC)/Tata Memorial Hospital (TMH), Tata Memorial Centre, Homi Bhabha National Institute (HBNI), Mumbai, India. Electronic address:

Central neurocytoma is a rare benign brain tumor that typically arises from the subependymal lining of the lateral ventricles in young adults and is generally associated with excellent survival following neurosurgical excision alone. This is a retrospective clinical audit of biopsy-proven neurocytoma registered between 2004 and 2019 at a single institution in India. All time-to event outcomes were analyzed using Kaplan-Meier method and compared with the log-rank test. Any p-value <0.05 was considered statistically significant. A total of 66 patients with neurocytoma were included in the descriptive analysis. Median age of study cohort was 31 years with equitable gender ratio. Majority (83%) of tumors were intraventricular, lateral ventricle being the commonest location. Following maximal safe resection, patients were generally kept on close clinico-radiological surveillance. Most patients (80%) had typical World Health Organization (WHO) grade II neurocytoma with remaining 20% showing histological atypia and/or high-grade features. Outcome analysis was restricted to 35 patients with relevant treatment details and adequate follow-up information. Six patients experienced recurrent/progressive disease with 2 documented deaths. At a median follow up of 52 months, 5-year Kaplan-Meier estimates of progression-free survival and overall survival were 93.3% and 96.8% respectively. Three patients developed delayed recurrence (>5-years after initial diagnosis) underscoring the importance of long-term follow-up. Atypical/high-grade histology was associated with inferior survival that may stand to benefit with upfront adjuvant radiotherapy. This represents the largest single-institution series of central neurocytoma and demonstrates excellent outcomes with adequate surgical resection alone, reserving radiotherapy for large residual tumor, recurrent disease, and/or atypical high-grade histology.
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http://dx.doi.org/10.1016/j.jocn.2020.11.051DOI Listing
February 2021

Atypical Teratoid/Rhabdoid Tumor: Revisiting Histomorphology and Immunohistochemistry With Analysis of Cyclin D1 Overexpression and Amplification.

Int J Surg Pathol 2021 Apr 24;29(2):155-164. Epub 2020 Jul 24.

29436Tata Memorial Hospital, Homi Bhabha National Institute, Mumbai, India.

. Atypical teratoid/rhabdoid tumor (AT/RT) is a rare malignant pediatric brain tumor, characterized by inactivation of INI1/hSNF5 gene and loss of its protein. We studied the histomorphological and immunohistochemical spectrum of this tumor including cyclin D1 expression and gene amplification. . Cases with INI1 loss by immunohistochemistry (IHC; from 2005 to 2018) were retrieved, reviewed, and evaluated for cyclin D1 expression by additional IHC and fluorescence in situ hybridization for genes. . A total of 66 cases were identified. Age ranged from 1 to 20 years (≤3 years, 44 cases; >3 years, 22). Male to female ratio was 1.7:1. Tumor locations were as follows: posterior fossa: 30; supratentorial: 31; spinal: 5. AT/RT in patient ≤3 years was frequently located in the posterior fossa, composed of primitive embryonal morphology ( = .02), rarely had ample rhabdoid cells ( = .05), and had a negative impact on overall survival ( = .04). The rhabdoid cells was a conspicuous component of posterior fossa tumors compared with the supratentorial ones ( = .06). The supratentorial tumors ( = .06), absence of rhabdoid cells ( = .06), and the presence of immunological divergent differentiation ( = .11) had a comparatively better outcome. Cyclin D1 overexpression (n = 46) was noted in 32 cases and was frequently seen in the posterior fossa tumors ( = .02). (n = 42) amplification was seen in 1 case and the (n = 42) amplification in none. . AT/RT can occur in the noninfantile age group, at nonconventional sites and frequently overexpress cyclin D1. The alterations are almost nonexistent in AT/RT.
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http://dx.doi.org/10.1177/1066896920943289DOI Listing
April 2021

Primary retroperitoneal GIST: Case report and review of literature.

Indian J Cancer 2020 Jul-Sep;57(3):334-336

Department of Pathology, Tata Memorial Hospital, Mumbai, Maharashtra, India.

Extraintestinal gastrointestinal stromal tumors (EGISTs) are mesenchymal tumor with no connection to tubular gastrointestinal system. They commonly arise from omentum and mesentry. Retroperitoneum is a rare primary site. We herein report a case of a 33 year old woman who underwent upfront surgery for primary retroperitoneal gastrointestinal stromal tumor and is now disease-free on adjuvant Imatinib.
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http://dx.doi.org/10.4103/ijc.IJC_556_18DOI Listing
December 2020

Melanotic Schwannoma, a Deceptive Misnomer for a Tumor With Relative Aggressive Behavior: A Series of 7 Cranial and Spinal Cases.

Int J Surg Pathol 2020 Dec 26;28(8):850-858. Epub 2020 May 26.

Tata Memorial Hospital and ACTREC, 29436Tata Memorial Centre, Homi Bhabha National Institute, Mumbai, India.

The authors present in this article a series of 7 intracranial/spinal cases of melanotic schwannomas that highlight the aggressive nature of these tumors. The series comprises 2 males and 5 females, age range 19 to 50 years, with spinal/paraspinal location in 4/7 (57%), and intracranial (along the trigeminal nerve) location in 3/7 (43%). There was no association with Carney's complex. All the cases showed similar histology of epithelioid to spindled cytomorphology with vesicular nuclei (including prominent nucleoli) and conspicuous intracytoplasmic melanin pigment. Mitotic activity was seen in 3/7 cases (43%), 2 of which showed atypical forms. Immunohistochemically, all the cases were positive for S100 protein, HMB-45, melan-A and p16 protein; while negative for PDL1. Ki-67 labeling index was >5% in cases with mitotic activity. Two cases were asymptomatic (after 2.5 and 5 years postsurgery), 2 cases (one was mitotically active, while the other had no mitosis) had recurrence 6 months and 3.5 years after initial surgery, respectively, probably suggesting that mitosis alone may not be a robust predictor of biological behavior. These patients were treated with various adjuvant modalities and were alive for 4 years and 3 years of post-therapy period, respectively. Three patients were offered adjuvant radiotherapy, based on presence of aggressive histological features or significant residual tumor. One showed good clinical response. This series highlights the variability of clinical behavior of these neoplasms belying a deceptively bland nomenclature and also highlights the lack of correlation between histological features and biological behavior.
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http://dx.doi.org/10.1177/1066896920923146DOI Listing
December 2020

A rare case of aggressive, Merkel Cell Carcinoma of the male breast co-existing with chronic lymphocytic leukemia.

Breast J 2020 07 14;26(7):1389-1391. Epub 2020 Apr 14.

Department of Pathology, Tata Memorial Centre, Homi Bhabha National Institute, Mumbai, India.

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http://dx.doi.org/10.1111/tbj.13809DOI Listing
July 2020

Intrahepatic Cholangiocarcinoma Presenting as a Scalp Mass.

J Gastrointest Cancer 2020 Sep;51(3):1044-1046

Department of Pathology, Tata Memorial Hospital, Homi Bhabha National Institute, Mumbai, India.

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http://dx.doi.org/10.1007/s12029-020-00388-xDOI Listing
September 2020

ALK1 Gene Rearranged Pulmonary Sarcomatoid Carcinoma Masquerading as Tuberculosis in a Young Male.

Turk Patoloji Derg 2020 ;1(1):71-77

Department of Pathology, Tata Memorial Center, Homi Bhabha National Institute (HBNI), Parel, MUMBAI, INDIA.

Pulmonary sarcomatoid carcinoma is rare, with limited treatment options and poor prognosis. In contrast to other non small cell lung carcinomas, not much is known about its molecular biology. In an endemic country like India, lung cancer is often masked by tuberculosis and presents in advanced stages. We report here an unusual case of pulmonary sarcomatoid carcinoma, in a young non-smoker male, who had co-existent tuberculosis masking and delaying the diagnosis of malignancy. On molecular study, the tumor showed ALK gene rearrangement, both by immunohistochemistry and fluorescence in-situ hybridization, which has been reported only twice previously. Presence of ALK gene rearrangements in sarcomatoid carcinoma has significant therapeutic implications and potential for altering the prognosis of this fatal disease. Hence we recommend performing ALK gene rearrangement analysis in all cases of sarcomatoid lung carcinomas. The report discusses the diagnostic approach and provides insight into the molecular pathogenesis of this exceedingly rare malignancy.
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http://dx.doi.org/10.5146/tjpath.2020.01481DOI Listing
December 2020

Small Cell Carcinoma of Ovary, Hypercalcemic Type (Malignant Rhabdoid Tumor of Ovary) with Loss of SMARCA4 (BRG1) Expression: Report of Two Cases.

Turk Patoloji Derg 2020 ;1(1):261-267

Departments of Pathology, Tata Memorial Centre, Homi Bhabha National Institute, MUMBAI, INDIA.

Small cell carcinoma of the ovary, hypercalcemic type (SCCOHT) / malignant rhabdoid tumor of the ovary (MRTO) is a rare tumor affecting young women. It is frequently misdiagnosed due to overlapping morphological and immunohistochemical features with many other ovarian tumors. The prognosis of the tumors is very poor; hence an accurate diagnosis is of utmost importance. Recently, the loss of BRG1 protein by immunohistochemistry has been shown to be a useful diagnostic marker. We present here two cases of SSCOHT/MRTO, in young women 22 and 32 years of age, where several differential diagnoses were considered on morphology and immunohistochemistry but were confirmed as SCCOHT/MRTO by the demonstration of loss of BRG1. As the prognosis of SCCOHT is very dismal, and accurate diagnosis is of necessity, we recommend the inclusion of BRG1 immunohistochemistry in the diagnostic armamentarium of poorly differentiated ovarian tumors, particularly in young adults.
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http://dx.doi.org/10.5146/tjpath.2020.01477DOI Listing
December 2020

Extent of re-excision, sequence/timing of salvage re-irradiation, and disease-free interval impact upon clinical outcomes in recurrent/progressive ependymoma.

J Neurooncol 2020 Apr 18;147(2):405-415. Epub 2020 Feb 18.

Departments of Radiation Oncology, Advanced Centre for Treatment Research & Education in Cancer (ACTREC)/Tata Memorial Hospital (TMH), Tata Memorial Centre, Mumbai, Homi Bhabha National Institute (HBNI), Kharghar, Navi Mumbai, 410210, India.

Purpose: To report clinical outcomes of salvage re-irradiation (re-RT) in recurrent/progressive ependymoma.

Methods: Medical records of patients treated with curative-intent re-RT as multi-modality management for recurrent/progressive ependymoma were analyzed retrospectively. The linear-quadratic model was used to provide estimates of biologically effective dose (BED) of irradiation using an α/β value of 2 for late CNS toxicity for each course of irradiation and summated to derive cumulative BED without correcting for the assumed recovery.

Results: A total of 55 patients (median age 10 years at index diagnosis) treated with curative-intent re-RT between 2010 and 2018 were included. Median time to first recurrence was 29 months with an inter-quartile range (IQR) of 16-64 months. Majority (n = 46, 84%) of patients underwent surgical re-excision of recurrent disease. Median interval from first course of irradiation (RT1) to second course (RT2) was 35 months (IQR = 26-66 months) with a median re-RT dose of 54 Gy in 30 fractions (range 40-60 Gy), resulting in median cumulative equivalent dose in 2 Gy fraction (EQD2) of 106.2 Gy (range 92.4-117.6 Gy). Volume of re-RT was based on location and pattern of relapse, comprising uni-focal (n = 49, 89%), multi-focal (n = 3, 5.5%), or craniospinal irradiation (CSI) in 3 (5.5%) patients respectively. Thirty-six (66%) patients received platinum-based salvage chemotherapy either before or after RT2. At a median follow up of 37 months (range 6-80 months), the Kaplan-Meier estimates of 3-year progression-free survival (PFS) and overall survival (OS) for the entire study cohort were 40% and 51% respectively. Gross total resection at recurrence; early salvage re-RT (prior to chemotherapy, if any); and longer (> 2 years) disease-free interval (DFI) were associated with better survival outcomes. Salvage re-RT was generally well tolerated with only 3 (5.5%) patients developing symptomatic radiation necrosis necessitating corticosteroids.

Conclusion: Extent of re-excision, sequence/timing of re-RT, and DFI impact upon outcomes in curative-intent, multi-modality salvage therapy for recurrent ependymoma.
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http://dx.doi.org/10.1007/s11060-020-03434-7DOI Listing
April 2020

Utility of flouro-deoxy-glucose positron emission tomography/computed tomography in the diagnostic and staging evaluation of patients with primary CNS lymphoma.

CNS Oncol 2019 12 29;8(4):CNS46. Epub 2019 Nov 29.

Department of Radiation Oncology, TMH/ACTREC, Tata Memorial Centre, Homi Bhabha National Institute (HBNI), Mumbai 400012, India.

To prospectively assess the clinical utility of pretreatment flouro-deoxy-glucose positron emission tomography/computed tomography (18F-FDG-PET/CT) in patients with primary central nervous system (CNS) lymphoma (PCNSL). Patients with suspected/proven PCNSL underwent baseline whole-body 18F-FDG-PET/CT. Maximum standardized uptake value and tumor/normal tissue ratios were compared between CNS lymphoma and other histological diagnoses. The mean maximum standardized uptake value (27.5 vs 18.2; p = 0.001) and mean tumor/normal tissue ratio (2.34 vs 1.53; p < 0.001) of CNS lymphoma was significantly higher than other histologic diagnoses. Five of 50 (10%) patients with biopsy-proven CNS lymphomas had pathologically increased FDG-uptake at extraneuraxial sites uncovering systemic lymphoma. Pretreatment whole-body 18F-FDG-PET/CT provides valuable complementary information in the diagnostic and staging evaluation of patients with PCNSL to guide therapeutic decision-making.
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http://dx.doi.org/10.2217/cns-2019-0016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6912853PMC
December 2019

The Rare Phenomenon of Loss of INI1 Expression at Recurrence/Progression of Primary Central Nervous System Tumors: Report of 3 Cases.

Int J Surg Pathol 2020 May 3;28(3):341-347. Epub 2019 Nov 3.

Tata Memorial Hospital, Tata Memorial Centre, Homi Bhabha National Institute, Mumbai, India.

It is extremely rare for loss of immunohistochemical expression of INI1 to occur primarily at recurrence/progression with retained expression at the primary/initial presentation of central nervous system (CNS) tumor. In this article, we present 3 such cases showing loss of INI1 expression primarily at recurrence. All patients were males, aged 7 years (case 1), 11 years (case 2), and 35 years (case 3), diagnosed with low-grade glial/glioneuronal tumor, not otherwise specified (case 1), craniopharyngioma (case 2), and glioblastoma (case 3); all showed retained INI1 protein expression. Case 1 at 12 months recurrence showed a high-grade tumor with relative undifferentiated morphology, case 2 after 104 months showed a sarcomatous progression, and case 3 recurred after 4 months with the presence of relative undifferentiated round cells. All these recurrences showed loss of INI1 expression. Loss of gene function resulting in complete loss of INI1 protein expression is not a well-accepted genetic mechanism for transformation/progression as this series emphasizes.
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http://dx.doi.org/10.1177/1066896919883942DOI Listing
May 2020

Role of Adjuvant Chemotherapy in Extranodal Follicular Dendritic Cell Sarcoma.

ACG Case Rep J 2019 Mar 12;6(3):1-4. Epub 2019 Feb 12.

Division of Hepatobiliary Surgery, Department of Surgical Oncology, Tata Memorial Hospital, Homi Bhabha National Institute, Mumbai, India.

Extranodal follicular dendritic cell sarcomas (FDCSs) are an uncommon entity, commonly misdiagnosed because of the morphologic similarities with other neoplasias. Previously, FDCSs were not considered a differential diagnosis because of the limited use of immunohistochemistry. Surgical excision is the treatment of choice for localized FDCS. The role of chemotherapy has not been determined for this rare disease. We report 2 cases of metastatic extranodal intra-abdominal FDCS, initially misdiagnosed as gastrointestinal stromal tumor, their clinicopathological features, literature review, and the role of adjuvant chemotherapy.
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http://dx.doi.org/10.14309/crj.0000000000000008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6658018PMC
March 2019

Pigmented primary epithelial tumor of the sella: A report of an intriguing case.

Neuropathology 2019 Oct 2;39(5):378-381. Epub 2019 Aug 2.

Neurosurgery Division of Department of Surgical Oncology, Tata Memorial Centre, Homi Baba National Institute, Mumbai, India.

This is a report of an uncommon primary pigmented papillary epithelial tumor of the sella in a 38-year-old man, who presented with clinicoradiological features of pituitary adenoma. Histologically, the tumor showed features reminiscent of choroid plexus papilloma, that is, conspicuous papillary epithelial morphology with presence of intacytoplasmic melanin and no mitotic activity. Immunohistochemically, the tumor was positive for pancytokeratin (AE1/AE3), S-100 protein and CD56, while it was negative for glial fibrillary acid protein, thyroid transcription factor-1, epithelial membrane antigen, other cytokeratins and pituitary hormones. These findings were not typical of any WHO-defined entity and is thus best regarded as a pigmented papillary epithelial tumor of sella of uncertain histogenesis. The present case is a valuable addition to the spectrum of primary pigmented papillary epithelial tumors originating at an unusual location.
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http://dx.doi.org/10.1111/neup.12584DOI Listing
October 2019

Outcomes of salvage re-irradiation in recurrent medulloblastoma correlate with age at initial diagnosis, primary risk-stratification, and molecular subgrouping.

J Neurooncol 2019 Sep 24;144(2):283-291. Epub 2019 Jun 24.

Departments of Neurosurgical Oncology, Advanced Centre for Treatment Research & Education in Cancer (ACTREC)/Tata Memorial Hospital (TMH), Tata Memorial Centre, Homi Bhabha National Institute (HBNI), Mumbai, India.

Purpose: To report outcomes of salvage re-irradiation (re-RT) in recurrent/progressive medulloblastoma (MB).

Methods: Medical records of patients treated with curative-intent re-RT as multi-modality management for recurrent/progressive MB between 2008 and 2018 were analyzed retrospectively.

Results: A total of 28 patients (median age 18 years at index diagnosis) were included. Molecular subgrouping was done using real-time reverse transcriptase polymerase chain reaction (RT-PCR) based on the differential expression of select set of 12 protein coding genes and 9 microRNAs. Fifteen of 17 (88%) patients with sonic hedgehog (SHH)-MB developed isolated local recurrence within the index tumor-bed, while 5 of 7 (72%) patients with Group 4 MB developed localized relapse outside the posterior fossa. Diffuse neuraxial dissemination was seen in 2 patients with SHH-MB, and one each of Group 4 and wingless (WNT)-MB. Molecular subgrouping was not known in 3 patients. The dose and volume of re-RT was based on site and patterns of relapse, comprising unifocal in 18 (64%), multi-focal in 3 (11%), and repeat craniospinal irradiation (re-CSI) in 7 (25%) patients. Median interval from primary irradiation to re-RT was 49.5 months (range 24-98 months) with median cumulative biologically effective dose of 117 Gy (range 78-132 Gy). All patients received platinum-based salvage chemotherapy either before or after re-RT. One patient developed symptomatic radiation necrosis following re-CSI. At a median follow-up of 24 months (range 6-84 months), 2-year post-re-RT progression-free survival (PFS) and overall survival (OS) was 46% and 51% respectively. Younger age (< 18 years) at index diagnosis, primary risk stratification (standard-risk) and molecular subgrouping (Group 4) were associated with significantly better post-re-RT outcomes.

Conclusion: Salvage re-RT provides good local control and encouraging survival outcomes with acceptable toxicity in selected patients with recurrent/progressive MB.
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http://dx.doi.org/10.1007/s11060-019-03225-9DOI Listing
September 2019

Primary pineal tumors - Unraveling histological challenges and certain clinical myths.

Neurol India 2019 Mar-Apr;67(2):491-502

Department of Radiation Oncology, Tata Memorial Centre, Homi Baba National Institute, Mumbai, Maharashtra, India.

Background: Pineal gland tumors range from the well-differentiated "pineocytoma" [World Health Organization (WHO) grade I], which have a very good prognosis, to the aggressive and poorly differentiated "pineoblastoma" (WHO grade IV) with "pineal parenchymal tumor of intermediate differentiation" (PPTID; WHO grades II and III) occupying intermediary differentiation and prognosis. Papillary tumor of the pineal region (PTPR; WHO grades II and III) is a distinct entity with propensity for recurrence and spinal dissemination. However, the diagnostic criteria to differentiate these entities, especially between WHO grades II and III of both PPTID and PTPR, remain nebulous.

Objective: To evaluate the relative frequency of the individual entities and histomorphological (including the proliferation indices) features across the spectrum of pineal parenchymal tumors (PPTs) [including PTPRs] along their course.

Design: All cases of PPTs were retrieved, reviewed, and graded based on the histological criteria defined in the literature.

Results: PPTID, more commonly seen in young adults, was the most common subtype of PPT. This was followed by pineoblastoma which was more commonly seen in children. Clinical progression was seen in both grades II and III of PPTID; however, it was more commonly seen in cases with a MIB1 labeling index of >10%. PTPRs (both grades II and III) showed an aggressive histological transformation and also intraparenchymal metastasis.

Conclusion: PPTIDs are the most common adult primary PPTs and have the potential to progress and disseminate in both grades II and III. Both grades of PTPRs have a metastatic potential. These findings suggest the need for postoperative adjuvant therapy in both grades of PPTID and PTPR.
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http://dx.doi.org/10.4103/0028-3886.258045DOI Listing
July 2019

Demographic profile, clinicopathological spectrum, and treatment outcomes of primary central nervous system tumors: Retrospective audit from an academic neuro-oncology unit.

Indian J Cancer 2017 Oct-Dec;54(4):594-600

Department of Radiation Oncology, Tata Memorial Hospital, Mumbai, Maharashtra, India.

Primary tumors of the central nervous system are relatively uncommon, comprising only 1%-2% of all neoplasms. However, they constitute the second most common type of malignancy in children (after leukemia) and the leading cause of cancer-related morbidity and mortality in children and young adults worldwide. Globally, there is substantial variability with nearly five-fold difference in incidence between various parts of the world. Brain tumors are quite heterogeneous with regard to histology, biological behavior, and prognosis mandating multidisciplinary therapeutic decision-making. This retrospective audit of all consecutive patients registered in a single calendar year (2013) in the neuro-oncology disease management group at Tata Memorial Centre is reflective of the ground reality and fair representation of outcomes in routine neuro-oncologic practice.
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http://dx.doi.org/10.4103/ijc.IJC_543_17DOI Listing
October 2018

Clinicopathologic Features of Two Rare Cases of Dedifferentiated Adamantinomas, Including Diagnostic Implications.

Int J Surg Pathol 2019 Apr 25;27(2):193-202. Epub 2018 Jul 25.

1 Tata Memorial Centre, Mumbai, India.

A dedifferentiated adamantinoma is a rare subtype of an adamantinoma, associated with a relatively aggressive clinical course, with less than 10 such cases reported so far. A 25-year-old-male presented with pain in his right leg of 1-year duration. Imaging disclosed a well-defined lytic, destructive lesion in his proximal tibia with a cortical break and a soft tissue component. Microscopic examination of the biopsy and resected specimen showed nests and clusters of atypical epithelial cells, along with significant areas showing markedly pleomorphic and spindly sarcomatous cells with interspersed mitotic figures and areas of stromal hyalinization. By immunohistochemistry, the areas of epithelial differentiation showed intense positivity for cytokeratin and p63, whereas the sarcomatous areas showed reduced to absent immunostaining. A 51-year-old lady presented with a recurrent tumor in her right tibia, which was initially diagnosed as an adamantinoma, along with metastatic lesions in her lung. Microscopic examination of the recurrent and metastatic tumors showed areas of epithelial differentiation along with spindly sarcomatous cells, arranged in fascicles. By immunohistochemistry, the areas of epithelial differentiation showed positivity for pan cytokeratin. Additionally, p63 was diffusely positive. p53 showed diffuse and intense staining pattern in the sarcomatous component (dedifferentiation). While the first case is disease-free, the second case is on follow-up. The 2 cases of dedifferentiated adamantinoma further confirm the rare occurrence of this tumor in our population. Its correct diagnosis has treatment implications. Differential diagnoses and literature review of similar reported cases are also presented in this article.
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http://dx.doi.org/10.1177/1066896918790388DOI Listing
April 2019

Impact of timing of radiation therapy on outcomes in atypical meningioma: A clinical audit.

Pract Radiat Oncol 2018 Sep - Oct;8(5):e275-e284. Epub 2018 Feb 4.

Department of Radiation Oncology, ACTREC/TMH, Tata Memorial Centre, Mumbai, India. Electronic address:

Background: The role of early adjuvant radiation therapy (RT) in patients with atypical meningioma remains controversial. The goal of this work was to report the impact of timing of RT on outcomes in atypical meningioma.

Methods And Materials: Patients of atypical meningioma were identified through electronic search of institutional database. Following surgery, RT was delivered either in upfront adjuvant setting (early adjuvant RT) or after recurrence/progression (salvage RT).

Results: There were 51 patients in the early adjuvant RT group and 30 patients in the salvage RT group. Six of 51 (12%) patients in the early adjuvant RT group recurred/progressed compared with 34 of 35 (97%) patients kept on observation after initial surgery. Thirty of these 34 patients received salvage RT, mostly after reexcision. Twelve of 30 (40%) patients recurred/progressed after salvage RT, compared with 6 of 51 (12%) patients after early adjuvant RT (P = .003). Post-RT 5-year progression-free survival was significantly better for early adjuvant RT compared to salvage RT (69% vs 28%, log-rank P < .001).

Conclusions: Within the limitations of any retrospective analysis, upfront early adjuvant RT can significantly reduce the risk of local recurrence/progression in atypical meningiomas compared with initial observation. A sizeable proportion of patients who are observed initially recur/progress over time necessitating salvage therapy; however, reexcision followed by salvage RT may not be as effective as early adjuvant RT.
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http://dx.doi.org/10.1016/j.prro.2018.01.010DOI Listing
November 2018

Pilomatrix Carcinoma Masquerading as Breast Carcinoma.

Indian J Med Paediatr Oncol 2017 Jul-Sep;38(3):367-370

Department of Pathology, Tata Memorial Centre, Mumbai, Maharashtra, India.

Pilomatrix carcinoma is an exceedingly rare skin adnexal neoplasm derived from piliferous follicles, usually occurring in the head and neck region. Localization of this tumor in the breast is a rarity. We now report an unusual case of a 49-year-old female who presented with a palpable mass in the left breast for 2 years. Mammogram revealed a large, lobulated opacity with calcification, and positron emission tomography-computed tomography showed a metabolically active soft tissue mass measuring 15 cm involving all the quadrants of the left breast. Subsequently, the patient underwent radical mastectomy, and histopathologic diagnosis of pilomatrix carcinoma of the breast was offered. Pilomatrix carcinoma, although exceedingly rare, can have an intramammary location and can be misdiagnosed as breast carcinoma on limited material. A high index of suspicion is required to arrive at an accurate diagnosis so as to obviate neoadjuvant chemotherapy.
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http://dx.doi.org/10.4103/ijmpo.ijmpo_118_16DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5686986PMC
December 2017

Chromoblastomycosis of the leg.

Pol J Pathol 2017;68(2):182-184

Case Report: We herein report a case of chromoblastomycosis presenting as a verrucous lesion over the leg. A 56-year-old male patient was a known case of carcinoma larynx and was treated for the same. At presentation to our hospital, the patient, in addition to the recurrent local disease, was suspected to have second primary in the form of verrucous carcinoma of the leg. Histopathological examination of the skin biopsy revealed the presence of characteristic pigmented sclerotic bodies with pseudoepitheliomatous hyperplasia of the overlying epithelium. The case was reported as chromoblastomycosis and the patient responded well to anti-fungal chemotherapy in the form of itraconazole.
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http://dx.doi.org/10.5114/pjp.2017.69695DOI Listing
December 2017

Follicular Dendritic Cell Sarcoma of the Larynx: Apropos a Rare Case with Review of the Literature.

Turk Patoloji Derg 2019 ;35(3):254-257

Department of Pathology, Tata Memorial Center, MUMBAI, MAHARASHTRA, INDIA.

Extranodal follicular dendritic cell sarcomas are extremely rare neoplasms included under the hematolymphoid and dendritic group of neoplasms. Histologically, fascicular, whorled spindle cells with sprinkled lymphocytes are typical; however higher grade epithelioid morphology seen in a subset makes diagnosis of follicular dendritic cell sarcoma challenging. Rarity of occurrence, a wide histologic spectrum and a long list of differential diagnostic entities render follicular dendritic cell sarcoma an under-recognized entity susceptible to diagnostic pitfalls. Application of a judicious panel of immunohistochemical markers is imperative to avoid errors in diagnosis and patient management. We report here an extremely rare case of follicular dendritic cell sarcoma of the larynx- a hitherto unreported site.
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http://dx.doi.org/10.5146/tjpath.2017.01408DOI Listing
February 2020
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