2,543 results match your criteria Malignant Rhabdoid Tumor


Histologically Diverse BAP1-Deficient Melanocytic Tumors in a Patient With BAP1 Tumor Predisposition Syndrome.

Am J Dermatopathol 2020 Jul 7. Epub 2020 Jul 7.

Department of Anatomical Pathology, PathWest Laboratory Medicine, QEII Medical Centre, Perth, WA, Australia.

BRCA1-associated protein-1 (BAP1)-deficient cutaneous tumors are common in patients with BAP1 tumor predisposition syndrome, frequently presenting before other associated neoplasms, and can serve as an early marker to identify individuals with this disease. The typical lesions are dermal based and composed of a combination of larger epithelioid melanocytes with abundant glassy cytoplasm and smaller cells resembling those of a conventional nevus. There is often a component of interspersed lymphocytes. Read More

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http://dx.doi.org/10.1097/DAD.0000000000001719DOI Listing

SWI/SNF complex-deficient soft tissue neoplasms: An update.

Semin Diagn Pathol 2020 Jun 5. Epub 2020 Jun 5.

Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA. Electronic address:

The SWItch Sucrose Non-Fermentable (SWI/SNF) chromatin remodeling complex is a large multi-subunit protein assembly that orchestrates chromatin compaction and accessibility for gene transcription in an ATP-dependent manner. As a key epigenetic regulator, the SWI/SNF complex coordinates gene expression, cell proliferation and differentiation, and its biologic functions, in part, antagonize the polycomb repressive complex 2. The mammalian SWI/SNF complex consists of 15 subunits encoded by 29 genes, some of which are recurrently mutated in human cancers, in the germline or sporadic setting. Read More

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http://dx.doi.org/10.1053/j.semdp.2020.05.005DOI Listing

Proteasome inhibition as a therapeutic approach in atypical teratoid/rhabdoid tumors.

Neurooncol Adv 2020 Jan-Dec;2(1):vdaa051. Epub 2020 Apr 14.

Department of Pediatrics, University of Colorado School of Medicine, Aurora, Colorado.

Background: Atypical teratoid/thabdoid tumor (AT/RT) remains a difficult-to-treat tumor with a 5-year overall survival rate of 15%-45%. Proteasome inhibition has recently been opened as an avenue for cancer treatment with the FDA approval of bortezomib (BTZ) in 2003 and carfilzomib (CFZ) in 2012. The aim of this study was to identify and characterize a pre-approved targeted therapy with potential for clinical trials in AT/RT. Read More

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http://dx.doi.org/10.1093/noajnl/vdaa051DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7236404PMC

Rhabdoid Tumors Are Sensitive to the Protein-Translation Inhibitor Homoharringtonine.

Clin Cancer Res 2020 Jul 6. Epub 2020 Jul 6.

Comprehensive Cancer Center, St. Jude Children's Research Hospital

Purpose: Rhabdoid tumors (RTs) are devastating pediatric cancers in need of improved therapies. We sought to identify small molecules that exhibit in vitro and in vivo efficacy against preclinical models of RT.

Experimental Design: We screened eight RT cell lines with 481 small molecules and compared their sensitivity to that of 879 other cancer cell lines. Read More

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http://dx.doi.org/10.1158/1078-0432.CCR-19-2717DOI Listing

Comprehensive evaluation of Ga-PSMA-11 PET/CT parameters for discriminating pathological characteristics in primary clear-cell renal cell carcinoma.

Eur J Nucl Med Mol Imaging 2020 Jul 4. Epub 2020 Jul 4.

Department of Urology, Nanjing Drum Tower Hospital, Institute of Urology Nanjing University, The Affiliated Hospital of Nanjing University Medical School, No. 321 Zhongshan Road, Nanjing, 210008, Jiangsu Province, China.

Purpose: To evaluate parameters derived from Ga-PSMA-11 PET/CT images for discriminating pathological characteristics in primary clear-cell renal cell carcinoma (ccRCC).

Methods: The study retrospectively examined data for 36 ccRCC patients with preoperative Ga-PSMA-11 PET/CT scan and surgical specimens. Radiological parameters including maximal tumor diameter, mean CT value, and maximal standard uptake value (SUV) were derived from PET/CT images. Read More

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http://dx.doi.org/10.1007/s00259-020-04916-6DOI Listing

Prenatal detection of disseminated extrarenal malignant rhabdoid tumor with placental metastases.

Ultrasound Obstet Gynecol 2020 Jul 4. Epub 2020 Jul 4.

Department of Obstetrics and Gynecology, Baylor College of Medicine and Texas Children's Fetal Center, Houston, TX.

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http://dx.doi.org/10.1002/uog.22136DOI Listing

Incidence, treatment, and outcomes of primary and recurrent Non-Wilms renal tumors in children: Report of 109 patients treated at a single institution.

J Pediatr Urol 2020 Jun 5. Epub 2020 Jun 5.

Homi Bhabha National Institute (HBNI), Mumbai, India; Department of Nuclear Medicine, Tata Memorial Centre, Bombay, India.

Introduction: Non-Wilms renal tumors represent a compelling subset of childhood renal tumors. However, their relative rarity renders accurate diagnosis, and therapy challenging which in some instance is inferred from their adult counterparts.

Objective: To describe the incidence and analyze the diagnostic challenges, therapies and, outcomes of non-Wilms renal tumors at the largest tertiary cancer centre in India. Read More

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http://dx.doi.org/10.1016/j.jpurol.2020.05.168DOI Listing

[Expression of mucin-4 in meningiomas and its diagnostic significance].

Zhonghua Bing Li Xue Za Zhi 2020 Jul;49(7):727-732

Department of Pathology, the First Affiliated Hospital of University of Science and Technology of China; Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei 230036, China.

To investigate the expression of mucin-4 (MUC4) in meningiomas. Totally 258 cases of meningiomas and 165 cases of other brain tumors were collected from the First Affiliated Hospital of China University of Science and Technology (Anhui Provincial Hospital) from 2011 to 2017. MUC4, EMA, PR, SSTR-2 protein expression was detected by immunohistochemistry, and their expression in meningiomas and other tumor tissue was compared. Read More

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http://dx.doi.org/10.3760/cma.j.cn112151-20191121-00749DOI Listing

A Morphologic and Immunohistochemical Comparison of Nuclear β-Catenin Expressing Testicular Sertoli Cell Tumors and Pancreatic Solid Pseudopapillary Neoplasms Supporting Their Continued Separate Classification.

Am J Surg Pathol 2020 Jun 26. Epub 2020 Jun 26.

Indiana University School of Medicine, Indianapolis, IN.

Some recent reports suggested that many Sertoli cell tumors, not otherwise specified (SCTs-NOS) of the testis were analogs of the solid pseudopapillary neoplasm (SPN) of the pancreas. One of the most relied on pieces of information for this assertion was the shared occurrence in both neoplasms of exon 3 mutations of the CTNNB1 gene, which was reflected by nuclear β-catenin expression. We, therefore, compared the morphologic and immunohistochemical features of 18 SCTs-NOS with strong, diffuse nuclear β-catenin expression with 16 SPNs that also showed such positivity. Read More

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http://dx.doi.org/10.1097/PAS.0000000000001527DOI Listing

Dural-based atypical teratoid/rhabdoid tumor in an adult: DNA methylation profiling as a tool for the diagnosis.

CNS Oncol 2020 Jun 30;9(2):CNS54. Epub 2020 Jun 30.

Department of Radiological, Oncological & Anatomopathological Sciences, Sapienza University of Rome, Rome, Italy.

Atypical teratoid/rhabdoid tumor (ATRT) is a malignant CNS embryonal tumor that mostly occurs in childhood, adult cases are rare. We report a case of a 23-year-old male with an extra-axial dura-based lesion in the left frontal area, previously diagnosed as gliosarcoma. After 6 years, the patient had a recurrence and the previous slides were reviewed. Read More

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http://dx.doi.org/10.2217/cns-2020-0006DOI Listing

Adult Pineal Region Atypical Teratoid Rhabdoid Tumor: A Case for Aggressive Surgical and Chemoradiation Management with Comprehensive Literature Review.

World Neurosurg 2020 Jun 26. Epub 2020 Jun 26.

Ochsner Clinic Foundation Department of Neurosurgery, New Orleans, LA; Tulane Medical Center Department of Neurosurgery, New Orleans, LA.

Background: Atypical teratoid rhabdoid tumor (ATRT) is a rare, highly malignant central nervous system neoplasm classified as an embryonal grade IV neoplasm by the World Health Organization. ATRT generally occurs in children younger than 3 years of age with 85 pathologically confirmed cases reported in adults. It is most commonly supratentorial with only 9 confirmed adult cases localized to the pineal region. Read More

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http://dx.doi.org/10.1016/j.wneu.2020.06.144DOI Listing

Malignant meningiomas.

Handb Clin Neurol 2020 ;170:245-250

Department of Neurosurgery, Addenbrooke's Hospital, Cambridge, United Kingdom. Electronic address:

Malignant meningiomas are WHO Grade III meningiomas representing 1% of all meningiomas. They are comprised of three histologic types: anaplastic, rhabdoid, and papillary. They can arise de novo or as a result of biologic progression of meningiomas of lower histologic grades. Read More

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http://dx.doi.org/10.1016/B978-0-12-822198-3.00044-6DOI Listing
January 2020

SMARCB1 loss induces druggable cyclin D1 deficiency via upregulation of MIR17HG in atypical teratoid rhabdoid tumors.

J Pathol 2020 Jun 19. Epub 2020 Jun 19.

Department of Biochemistry, McGill University, Montreal, Quebec, H3G 1Y6, Canada.

Atypical teratoid rhabdoid tumor (ATRT) is a fatal pediatric malignancy of the central neural system lacking effective treatment options. It belongs to rhabdoid tumor family usually caused by biallelic inactivation of SMARCB1, encoding a key subunit of SWI/SNF chromatin remodeling complexes. Previous studies proposed that SMARCB1 loss drives rhabdoid tumor by promoting cell cycle through activating transcription of cyclin D1 while suppressing p16. Read More

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http://dx.doi.org/10.1002/path.5493DOI Listing

Malignant primitive epithelioid sarcoma with features of rhabdoid tumor presenting with diffusely metastatic disease.

J Pediatr Surg Case Rep 2020 Aug 16;59. Epub 2020 May 16.

University of California, Davis Medical Center. Department of Pediatric General, Thoracic and Fetal Surgery, United States.

Diagnosis of a tumor is a rare occurrence and poses diagnostic and therapeutic challenges. In cases of tumor-associated hydrops, there is significant risk of fetal demise, and prenatal intervention may be considered to avoid this outcome when possible. When fetal intervention is unlikely to improve survival, information can be useful for counseling families. Read More

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http://dx.doi.org/10.1016/j.epsc.2020.101484DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7302103PMC

Immunotherapy in sarcoma: combinations or single agents? In whom?

Curr Opin Oncol 2020 Jul;32(4):339-343

Medical Oncology Department, Centre Leon Berard, Lyon, France.

Purpose Of Review: First clinical trials investigating immune check point (ICP) inhibitors in patients with sarcoma, regardless histological or molecular subtypes did not demonstrate any prolonged benefit. To maximize the chance of benefit from immunotherapy, recent strategies explore the combination of treatments and aim to improve identification of responsive histological subtypes.

Recent Findings: Combination of several ICP inhibitors tends to increase toxicity and efficacy. Read More

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http://dx.doi.org/10.1097/CCO.0000000000000651DOI Listing

Neuroimaging of pediatric infratentorial tumors and the value of diffusion-weighted imaging (DWI) in determining tumor grade.

Acta Radiol 2020 Jun 15:284185120933219. Epub 2020 Jun 15.

Department of Pathology, Christian Medical College, Vellore, Tamil Nadu, India.

Background: Diffusion-weighted imaging (DWI) provides information about the cellular density of tumors. This feature is useful in grading and identifying different tumor types.

Purpose: To assess the value of diffusion restriction and apparent diffusion coefficient (ADC) values in differentiating pediatric infratentorial tumors. Read More

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http://dx.doi.org/10.1177/0284185120933219DOI Listing

Genome Engineering Evolves Brain Tumor Modeling.

Neurol Med Chir (Tokyo) 2020 Jun 15. Epub 2020 Jun 15.

Ludwig Institute for Cancer Research, University of California San Diego.

Genome engineering using programmable nucleases such as transcription activator-like effector nuclease (TALEN), and clustered regularly interspaced short palindromic repeat-associated protein nine facilitated the introduction of genetic alterations at specific genomic sites in various cell types. These tools have been applied to cancer modeling to understand the pathogenic effects of the growing catalog of mutations found in human cancers. Pertaining to brain tumors, neural progenitor cells derived from human induced pluripotent stem cells (iPSCs) engineered with different combinations of genetic driver mutations observed in distinct molecular subtypes of glioblastomas, the most common form of primary brain cancer in adults, give rise to brain tumors when engrafted orthotopically in mice. Read More

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http://dx.doi.org/10.2176/nmc.ra.2020-0091DOI Listing

Patient-derived orthotopic xenografts of pediatric brain tumors: a St. Jude resource.

Acta Neuropathol 2020 Jun 10. Epub 2020 Jun 10.

Department of Tumor Cell Biology, St. Jude Children's Research Hospital, Memphis, TN, USA.

Pediatric brain tumors are the leading cause of cancer-related death in children. Patient-derived orthotopic xenografts (PDOX) of childhood brain tumors have recently emerged as a biologically faithful vehicle for testing novel and more effective therapies. Herein, we provide the histopathological and molecular analysis of 37 novel PDOX models generated from pediatric brain tumor patients treated at St. Read More

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http://dx.doi.org/10.1007/s00401-020-02171-5DOI Listing

Prognostic factors and long-term outcomes of primary intracranial rhabdoid meningioma: A systematic review.

Clin Neurol Neurosurg 2020 Jun 1;196:105971. Epub 2020 Jun 1.

Department of Neurosurgery, Liao Cheng People's Hospital, Liaocheng, Shandong, 252000, People's Republic of China. Electronic address:

Primary intracranial Rhabdoid meningioma (PIRM) is an uncommon subtype of WHO grade III meningioma. Given its rarity, its risk factors and management strategies are still unclear. Therefore, we aimed to assess the risk factors and outcomes for patients with PIRM and proposed an appropriate treatment. Read More

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http://dx.doi.org/10.1016/j.clineuro.2020.105971DOI Listing

Anaplastic thyroid carcinoma with rhabdoid phenotype: An unusual case and a comprehensive review.

Diagn Cytopathol 2020 Jun 9. Epub 2020 Jun 9.

Department of Pathology, Homi Bhabha Cancer Hospital (A Unit of Tata Memorial Centre) , Sangrur, Punjab, India.

Anaplastic thyroid carcinoma (ATC) is a highly aggressive thyroid malignancy predominantly affecting the elderly with a fatal outcome. ATC with rhabdoid phenotype is a rare variant, with only a few cases reported in the literature to date. We herein report a case of a 44-year old female diagnosed as ATC with rhabdoid phenotype. Read More

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http://dx.doi.org/10.1002/dc.24516DOI Listing

Signet Ring Cell Differentiation in Salivary Duct Carcinoma with Rhabdoid Features: Report of Three Cases and Literature Review.

Head Neck Pathol 2020 Jun 2. Epub 2020 Jun 2.

Section of Oncopathology and Regenerative Biology, Department of Pathology, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan.

Salivary duct carcinoma with rhabdoid features (SDCRF) is a rare salivary tumor with poor prognosis and is proposed as a salivary counterpart of pleomorphic lobular carcinoma of the breast (PLCB). Here, we report three cases of SDC with rhabdoid features (SDCRF) mimicking PLCB. Pleomorphic adenoma (PA) component was accompanied in all the cases confirming carcinoma ex PA. Read More

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http://dx.doi.org/10.1007/s12105-020-01186-4DOI Listing

MEK Inhibition Suppresses Growth of Atypical Teratoid/Rhabdoid Tumors.

J Neuropathol Exp Neurol 2020 Jul;79(7):746-753

Division of Pediatric Oncology, Department of Oncology.

Atypical teratoid/rhabdoid (AT/RT) tumors are the most common malignant brain tumor of infancy and have a poor prognosis. We have previously identified very high expression of LIN28A and/or LIN28B in AT/RT tumors and showed that AT/RT have corresponding increased expression of the mitogen-activated protein (MAP) kinase pathway. Binimetinib is a novel inhibitor of mitogen-activated protein kinase (MAP2K1 or MEK), and is currently in pediatric phase II clinical trials for low-grade glioma. Read More

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http://dx.doi.org/10.1093/jnen/nlaa042DOI Listing

SMARCB1/INI1-Deficient Extrarenal Rhabdoid Tumor: A Case Report of a Rare and Aggressive Soft Tissue Sarcoma.

Cureus 2020 May 25;12(5):e8273. Epub 2020 May 25.

Hematology and Oncology, Cancer Center of Kansas, Wichita, USA.

Malignant SMARCB1/INI1-deficient extrarenal rhabdoid tumors are aggressive tumors that are extremely rare in adults. A 56-year-old male presented with the chief complaints of unilateral lower abdominal and pelvic pain. He underwent urgent surgical intervention and mass resection with tissue sampling. Read More

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http://dx.doi.org/10.7759/cureus.8273DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7250519PMC

ALK rearranged renal cell carcinoma (ALK-RCC): a multi-institutional study of twelve cases with identification of novel partner genes CLIP1, KIF5B and KIAA1217.

Mod Pathol 2020 May 28. Epub 2020 May 28.

Department of Pathology, Faculty of Medicine in Pilsen, Charles University, Pilsen, Czech Republic.

ALK rearranged renal cell carcinoma (ALK-RCC) has recently been included in 2016 WHO classification as a provisional entity. In this study, we describe 12 ALK-RCCs from 8 institutions, with detailed clinical, pathological, immunohistochemical (IHC), fluorescence in situ hybridization (FISH), and next generation sequencing (NGS) analyses. Patients' age ranged from 25 to 68 years (mean, 46. Read More

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http://dx.doi.org/10.1038/s41379-020-0578-0DOI Listing
May 2020
6.187 Impact Factor

Rare ovarian tumors: an update on diagnosis and treatment.

Int J Gynecol Cancer 2020 Jun 26;30(6):879-887. Epub 2020 May 26.

Medical Oncology, Centre Leon Berard, Lyon, Rhône-Alpes, France

Rare ovarian cancers occur frequently. Almost half of ovarian malignancies relate to several different 'rare' histotypes, according to the World Health Organization. The most common tumors are epithelial tumors, including high grade serous carcinomas, the presumed 'frequent ovarian cancers', together with low grade serous, mucinous, endometrioid, clear cell, and carcinosarcomas. Read More

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http://dx.doi.org/10.1136/ijgc-2020-001235DOI Listing

The SWI/SNF chromatin-remodeling complex status in renal cell carcinomas with sarcomatoid or rhabdoid features.

Virchows Arch 2020 May 23. Epub 2020 May 23.

Department of Anatomic Pathology, Graduate School of Medical Sciences, Kyushu University, Maidashi 3-1-1, Higashi-ku, Fukuoka, 812-8582, Japan.

The presence of sarcomatoid or rhabdoid features (which are associated with advanced disease and poor prognosis) is rarely observed in the subtypes of renal cell carcinoma (RCC). The SWI/SNF chromatin-remodeling complex, which is composed of evolutionarily conserved core subunits including SMARCB1/INI1 (SMARCB1), SMARCA4/BRG1 (SMARCA4), SMARCC1/BAF155 (SMARCC1), and SMARCC2/BAF170 (SMARCC2), can be regarded as the prototype of an epigenetic regulator of gene expression that is involved in tumor suppression. We analyzed the histological, immunohistochemical, and clinicopathological status in 72 cases of RCC with sarcomatoid or rhabdoid features, focusing on the expression status of the subunits of SWI/SNF chromatin-remodeling complex proteins. Read More

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http://dx.doi.org/10.1007/s00428-020-02839-zDOI Listing

Identification of Hub Genes in Atypical Teratoid/Rhabdoid Tumor by Bioinformatics Analyses.

J Mol Neurosci 2020 May 21. Epub 2020 May 21.

Department of Neurosurgery, Yuquan Hospital, School of Clinical Medicine, Tsinghua University, Beijing, 100040, China.

Atypical teratoid/rhabdoid tumor (ATRT) is a devastating intracranial tumor in children. Currently, its molecular mechanisms cannot be studied effectively because patient samples are limited, and many factors are involved in its pathogenesis. In this study, we analyzed three gene expression profile data sets obtained from the Gene Expression Omnibus (GEO) database to identify genes that participate in ATRT. Read More

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http://dx.doi.org/10.1007/s12031-020-01587-8DOI Listing

Clinicopathological, Immunohistochemical and Molecular Genetic Study on Epithelioid Glioblastoma: A Series of Fifteen Cases with Literature Review.

Onco Targets Ther 2020 8;13:3943-3952. Epub 2020 May 8.

Department of Pathology, Second Affiliated Hospital, Amy Medical University (Third Military Medical University), Chongqing 400037, People's Republic of China.

Purpose: To observe the clinicopathological, immunohistochemical, and molecular genetic features of epithelioid glioblastoma (E-GBM), and identify tumor-associated prognostic factors.

Patients And Methods: The clinical and radiological data of fifteen cases of E-GBM were collected, and their pathological, immunohistochemical, and molecular features were examined. A 1p/19q analysis via FISH, promoter methylation by MS-PCR, and and V600E mutation analysis by HRM-PCR were performed. Read More

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http://dx.doi.org/10.2147/OTT.S249317DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7217317PMC

Renal cell carcinoma with rhabdoid features: A rare aggressive and fatal variant.

Urol Case Rep 2020 Sep 10;32:101244. Epub 2020 May 10.

Department of Urology, Mogadishu Somali Turkish Training and Research Hospital, Mogadishu, Somalia.

Renal cell carcinoma with rhabdoid features is a rare histopathologic variant recently documented. It is a very aggressive tumor and associated with a higher mortality rate and poor prognosis. A 22 years old female patient presents with a rare case of clear cell renal cell carcinoma with rhabdoid features successfully managed with right radical nephrectomy and paracaval lymph node excision. Read More

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http://dx.doi.org/10.1016/j.eucr.2020.101244DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7229264PMC
September 2020

Differentiation of Outcomes by Treatment Regimen and Histology in CNS Primary Embryonal Tumors.

World Neurosurg 2020 May 17. Epub 2020 May 17.

Department of Neurosurgery, University of Illinois at Chicago, Chicago, IL. Electronic address:

Background: CNS embryonal tumors are malignant neoplasms of undifferentiated embryonic cells that typically occur in the pediatric population. They are further divided into many subgroups by distinct histological and genetic profiles. We present the largest-to-date study to identify differential survival outcomes within each subgroup by treatment regimen. Read More

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http://dx.doi.org/10.1016/j.wneu.2020.05.103DOI Listing

Disulfiram potentiates the anticancer effect of cisplatin in atypical teratoid/rhabdoid tumors (AT/RT).

Cancer Lett 2020 Aug 16;486:38-45. Epub 2020 May 16.

Division of Pediatric Neurosurgery, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, Seoul, South Korea; Department of Neurosurgery, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, South Korea. Electronic address:

Atypical teratoid/rhabdoid tumor (AT/RT) is the most malignant tumor of the central nervous system that generally occurs in young children. Despite the use of intensive multimodal therapy for AT/RT, the prognosis is still poor. The brain tumor initiating cells in AT/RT cells has been suggested as one of the challenges in AT/RT treatment. Read More

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http://dx.doi.org/10.1016/j.canlet.2020.05.006DOI Listing

Primary rhabdoid epithelioid sarcoma of the left thigh mimicking epithelioid rhabdomyosarcoma: A diagnostic pitfall.

Int J Surg Case Rep 2020 8;70:188-192. Epub 2020 May 8.

Department of Orthopaedics and Traumatology, Faculty of Medicine Universitas Gadjah Mada - Dr. Sardjito General Hospital, Yogyakarta, Indonesia.

Introduction: Epithelioid sarcoma (ES) is a rare mesenchymal tumor, accounting for less than 1% of all adult soft-tissue sarcomas. The diagnosis of such malignancy is challenging. We reported a 31-year-old male diagnosed with rhabdoid ES that histologically mimicked epithelioid rhabdomyosarcoma in a 31-year-old male. Read More

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http://dx.doi.org/10.1016/j.ijscr.2020.04.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7229403PMC

Local Stage dependent necessity of Radiotherapy in Rhabdoid Tumors of the Kidney (RTK) - the GPOH experience.

Int J Radiat Oncol Biol Phys 2020 May 11. Epub 2020 May 11.

Dep. of Pediatric Hematology and Oncology, Saarland University Hospital, Homburg/Saar, Germany.

Background: Rhabdoid tumor of the kidney (RTK) is one of the most aggressive childhood renal tumors. Overall survival ranges from 22 to 47%. Indication for radiotherapy (RTx) in usually very young patients is an ongoing discussion. Read More

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http://dx.doi.org/10.1016/j.ijrobp.2020.04.046DOI Listing

Meta-Analysis of Treatment Modalities in Metastatic Atypical Teratoid/Rhabdoid Tumors in Children.

Pediatr Neurol 2020 Jul 8;108:106-112. Epub 2020 May 8.

The Ohio State University College of Medicine, Columbus, Ohio; Division of Hematology, Oncology and Bone Marrow Transplant, Nationwide Children's Hospital, Columbus, Ohio. Electronic address:

Background: Metastatic atypical teratoid/rhabdoid tumors (AT/RTs) are aggressive central nervous system tumors that present during infancy and are associated with dismal outcomes. Patients receive multimodal treatment including surgical resection, systemic chemotherapy, and one or more of intrathecal chemotherapy (IT), marrow-ablative chemotherapy with autologous hematopoietic cell rescue (AuHCR) and radiation therapy (XRT). While data regarding treatment modalities for AT/RT patients exist, no comprehensive data have been published regarding the metastatic patients. Read More

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http://dx.doi.org/10.1016/j.pediatrneurol.2020.03.003DOI Listing
July 2020
1.504 Impact Factor

Advances in the molecular classification of pediatric brain tumors: a guide to the galaxy.

J Pathol 2020 May 11. Epub 2020 May 11.

Division of Haematology/Oncology, Department of Pediatrics, University of Toronto and The Hospital for Sick Children, Toronto, ON, Canada.

Central nervous system (CNS) tumors are the most common solid tumor in pediatrics, accounting for approximately 25% of all childhood cancers, and the second most common pediatric malignancy after leukemia. CNS tumors can be associated with significant morbidity, even those classified as low grade. Mortality from CNS tumors is disproportionately high compared to other childhood malignancies, although surgery, radiation, and chemotherapy have improved outcomes in these patients over the last few decades. Read More

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http://dx.doi.org/10.1002/path.5457DOI Listing

Embryonal Tumors of the Central Nervous System: An Update.

Surg Pathol Clin 2020 Jun 7;13(2):235-247. Epub 2020 Apr 7.

Department of Pathology, Boston Children's Hospital, Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115, USA.

Embryonal tumors of the central nervous system (CNS) are rare, high-grade neoplasms predominantly affecting the pediatric population. Well-defined embryonal tumors include medulloblastoma, atypical teratoid/rhabdoid tumor, embryonal tumor with multilayered rosettes, C19MC-altered and embryonal tumor with multilayered rosettes, not otherwise specified, pineoblastoma, pituitary blastoma, CNS neuroblastoma, and ganglioneuroblastoma. Although their prognosis is nearly uniformly poor, the rapidly evolving understanding of their molecular biology contributes to diagnosis, prognosis, treatment, and clinical trial participation. Read More

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http://dx.doi.org/10.1016/j.path.2020.01.003DOI Listing

Brain tumors: Medulloblastoma, ATRT, ependymoma.

Pediatr Blood Cancer 2020 May 9:e28395. Epub 2020 May 9.

Radiation Oncology, Massachusetts General Hospital, Boston, Massachusetts.

Children with medulloblastoma, atypical teratoid rhabdoid tumor (ATRT), and ependymoma are treated with a multidisciplinary approach including surgery, radiotherapy, and chemotherapy. Lower doses of craniospinal irradiation and tumor bed boost together with chemotherapy are the current standard of care for average-risk medulloblastoma in the Children's Oncology Group (COG). The International Society of Pediatric Oncology (SIOP) is examining the role of hyperfractionated craniospinal irradiation and chemotherapy in high-risk patients. Read More

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http://dx.doi.org/10.1002/pbc.28395DOI Listing

HOXB13 controls cell state through super-enhancers.

Exp Cell Res 2020 Aug 4;393(1):112039. Epub 2020 May 4.

Women's Cancer Program, Cedars-Sinai Medical Center, Los Angeles, CA, 90048, USA; Jonsson Comprehensive Cancer Center, University of California Los Angeles, Los Angeles, CA, 90095, USA; Department of Obstetrics and Gynecology, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, 90095, USA. Electronic address:

Expression of the homeodomain transcription factor HOXB13 has been demonstrated in several malignancies but its role in tumorigenesis remains elusive. We observed high levels of HOXB13 in poorly differentiated pediatric tumors including a highly aggressive childhood neoplasm - malignant rhabdoid tumor. In a xenograft model of rhabdoid tumor, knockout of HOXB13 diminished tumor growth while partial knockdown of HOXB13 promoted differentiation of tumor cells into bone. Read More

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http://dx.doi.org/10.1016/j.yexcr.2020.112039DOI Listing
August 2020
3.246 Impact Factor

Atypical Teratoid/Rhabdoid Tumor Originated From the Trigeminal Nerve in a Young Male Adult: Case Report and Review of the Literature.

Front Neurol 2020 21;11:265. Epub 2020 Apr 21.

Department of Neurosurgery, The First Affiliated Hospital of Fujian Medical University, Fuzhou, China.

Atypical teratoid/rhabdoid tumor (AT/RT) is a highly malignant central nervous system neoplasm predominantly found in children under the age of 3 years, and is extremely rare in adults. There is no specific clinical presentations or radiological features in reported cases of AT/RT. Diagnosis of brain AT/RT is mainly dependent on the classical pathological characteristics. Read More

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http://dx.doi.org/10.3389/fneur.2020.00265DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7186469PMC

Changes in glomerular filtration rate and clinical course after sequential doses of carboplatin in children with embryonal brain tumors undergoing autologous stem cell transplantation.

J Egypt Natl Canc Inst 2020 Feb 18;32(1). Epub 2020 Feb 18.

Pediatric Stem Cell Transplantation Unit, Dana Farber/Children's Cancer and Blood Disorders Center, Boston, MA, USA.

Background: Treatment for malignant embryonal brain tumors in young children usually employs cycles of standardly dosed cisplatinum followed by high-dose carboplatinum-containing conditioning with single or tandem autologous stem cell rescue (HDC-ASCR). High-dose carboplatin is potentially nephrotoxic, and additive platinum exposure may acutely impact renal function. Aiming to determine if decrease in renal function during conditioning assessed prior to each carboplatin dose was associated with acute increases in creatinine, requirement for dialysis or transplant-related mortality (TRM). Read More

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http://dx.doi.org/10.1186/s43046-020-00024-6DOI Listing
February 2020

Immunophenotype-Genotype Correlations in Clear Cell Sarcoma of Kidney-An Evaluation of Diagnostic Ancillary Studies.

Pediatr Dev Pathol 2020 May 4:1093526620910658. Epub 2020 May 4.

Trinity College, University of Dublin, Dublin, Ireland.

Introduction: The purpose of this study was to establish a reliable panel of antibodies for immunohistochemical corroboration of a diagnosis of clear cell sarcoma of kidney (CCSK), taking into consideration the various genotypic subsets of CCSK.

Methods: We conducted full genotypic analysis for evidence of internal tandem duplication (ITD), and in 68 archival cases of CCSK and then immunostained all cases for CCND1, TLE1, and BCOR along with 63 control samples representing tumor types that may enter into the differential diagnosis of CCSK, including 7 congenital mesoblastic nephromas, 2 desmoplastic small round cell tumors, 13 malignant rhabdoid tumors, 9 Ewing sarcomas/primitive neuroectodermal tumor, 5 synovial sarcomas, and 27 Wilms' tumors.

Results: Molecular assays showed that 54 CCSKs harbored a -ITD, 1 case expressed a fusion transcript while none expressed the fusion. Read More

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http://dx.doi.org/10.1177/1093526620910658DOI Listing

Programmed death ligand 1/indoleamine 2,3-dioxygenase 1 expression and tumor-infiltrating lymphocyte status in renal cell carcinoma with sarcomatoid changes and rhabdoid features.

Hum Pathol 2020 Jul 30;101:31-39. Epub 2020 Apr 30.

Department of Anatomic Pathology, Graduate School of Medical Sciences, Kyushu University, Higashi-ku, Fukuoka, Japan. Electronic address:

Renal cell carcinoma (RCC) with sarcomatoid changes and rhabdoid features has shown poor outcomes. Several immune checkpoint inhibitors including programmed cell death protein 1 (PD-1)/programmed death ligand-1 (PD-L1) inhibitors have been approved for the treatment of RCC. Combination therapy using PD-1/PD-L1 and indoleamine 2,3-dioxygenase 1 (IDO1) inhibitors has also been used to treat various malignancies. Read More

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http://dx.doi.org/10.1016/j.humpath.2020.04.003DOI Listing

Locoregionally administered B7-H3-targeted CAR T cells for treatment of atypical teratoid/rhabdoid tumors.

Nat Med 2020 May 27;26(5):712-719. Epub 2020 Apr 27.

Department of Pediatrics, Stanford University School of Medicine, Stanford, CA, USA.

Atypical teratoid/rhabdoid tumors (ATRTs) typically arise in the central nervous system (CNS) of children under 3 years of age. Despite intensive multimodal therapy (surgery, chemotherapy and, if age permits, radiotherapy), median survival is 17 months. We show that ATRTs robustly express B7-H3/CD276 that does not result from the inactivating mutations in SMARCB1 (refs. Read More

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http://dx.doi.org/10.1038/s41591-020-0821-8DOI Listing

Use of High-Dose Chemotherapy in Front-Line Therapy of Infants Aged Less Than 12 Months Treated for Aggressive Brain Tumors.

Front Pediatr 2020 9;8:135. Epub 2020 Apr 9.

Neuro-Oncology Unit, Department of Pediatric Oncology, Meyer Children's Hospital, Florence, Italy.

Malignant brain tumors in infants less than 12 months of age are extremely rare, and they have poor prognosis. We evaluated genetic characteristics and response rates of infants with congenital brain tumors subjected to high-dose chemotherapy and autologous stem cell transplant after gross total tumor resection. In total, 10 infants, aged less than 12 months, were enrolled in this study. Read More

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http://dx.doi.org/10.3389/fped.2020.00135DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7160729PMC

Cutaneous manifestations of congenital malignant rhabdoid tumor: Unusual papillomatous plaques and other skin presentations.

Pediatr Dermatol 2020 Apr 23. Epub 2020 Apr 23.

University of Minnesota, Minneapolis, Minnesota.

Background/objectives: Malignant rhabdoid tumors (MRT) are highly aggressive tumors with a predilection for the kidney, central nervous system, and soft tissues that usually affect young children under three years of age. Primary presentation in the skin is rarely reported, and features of the cutaneous manifestations are not well described. We report six cases of metastatic MRT that first manifested with congenital nodules and masses in the skin. Read More

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http://dx.doi.org/10.1111/pde.14175DOI Listing

family of genes.

J Clin Pathol 2020 May;73(5):257-260

Department of Pathology, University Health Network Laboratory Medicine Program, University of Toronto, Toronto, Ontario, Canada.

The subgroup of genes belong to the SWI1/SNF1 family that are responsible chromatin remodelling and repair. Inactivating mutations in the main genes and lead to loss of expression of their respective proteins within the nucleus and, as such have characterised a set of malignancies that are underpinned by SMARCA-deficiency.The morphology of these tumours ranges from small to large epithelioid cells, giant cells and rhabdoid cells. Read More

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http://dx.doi.org/10.1136/jclinpath-2020-206451DOI Listing

Upregulation of Protein Synthesis and Proteasome Degradation Confers Sensitivity to Proteasome Inhibitor Bortezomib in Myc-Atypical Teratoid/Rhabdoid Tumors.

Cancers (Basel) 2020 Mar 22;12(3). Epub 2020 Mar 22.

Graduate Institute of Clinical Medicine, College of Medicine, Taipei Medical University, Taipei 110, Taiwan.

Atypical teratoid rhabdoid tumors (ATRTs) are among the most malignant brain tumors in early childhood and remain incurable. Myc-ATRT is driven by the oncogene, which directly controls the intracellular protein synthesis rate. Proteasome inhibitor bortezomib (BTZ) was approved by the Food and Drug Administration as a primary treatment for multiple myeloma. Read More

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http://dx.doi.org/10.3390/cancers12030752DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7140067PMC

Effect of early radiotherapy initiation and high-dose chemotherapy on the prognosis of pediatric atypical teratoid rhabdoid tumors in different age groups.

J Neurooncol 2020 May 28;147(3):619-631. Epub 2020 Mar 28.

Division of Radiation Oncology, Department of Oncology, Taipei Veterans General Hospital, No. 201, Sec. 2, Shipai Road, Beitou District, Taipei, 112, Taiwan (ROC).

Purpose: The optimal treatment strategy for pediatric atypical teratoid rhabdoid tumor (ATRT) is inconclusive. This study evaluated the prognostic value of early radiotherapy (RT) and high-dose chemotherapy with autologous stem cell rescue (HDC/ASCR) in pediatric ATRT.

Methods: This pooled analysis included ATRT patients treated at our institution and from other studies who were identified by a search of the PubMed electronic database. Read More

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http://dx.doi.org/10.1007/s11060-020-03456-1DOI Listing