Publications by authors named "Giuseppe Ciancia"

40 Publications

Septal Nasal Extramedullary Plasmacytoma: A Rare Tumor in an Unusual Area.

Ear Nose Throat J 2020 Mar 15:145561320911735. Epub 2020 Mar 15.

AOU San Giovanni e Ruggi D'Aragona, University of Salerno, Italy.

We present an extreme rare case of extramedullary nasal plasmacitoma that arise from nasal septum. The mass surgically removed was analyzed by a pathologist who diagnosed an extramedullary nasal plasmacytoma. The patient did not present systemic involvement. A short cycle of radiotherapy was performed after the surgery. At 9-month follow-up, the patient is recurrence free.
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http://dx.doi.org/10.1177/0145561320911735DOI Listing
March 2020

CD15, CD30, and PAX5 evaluation in Hodgkin's lymphoma on fine-needle aspiration cytology samples.

Diagn Cytopathol 2020 Mar 11;48(3):211-216. Epub 2019 Dec 11.

Department of Medicine and Surgery, University of Salerno, Fisciano SA, Italy.

Background: The phenotypical identification of diagnostic cells is crucial for the diagnosis of Hodgkin's lymphoma (HL) on fine-needle aspiration cytology (FNAC). The aim of this study is to evaluate the immunocytochemical (ICC) expression of CD30, CD15, and PAX5 in Hodgkin's cells (HC) and Reed-Sternberg cells (RSC) on smears and cell-blocks (CB) of HL and to compare the performance of each antibody on smears and CB.

Methods: In 21 FNAC cases of histologically confirmed classical HL, ICC identification of HC and RSC was performed using CD15, CD30, and PAX5 on smears and CB, respectively.

Results: CD30 was positive in 19/21 cases (90.5%; 11/11 smears and 8/10 CB), CD15 was positive in 14/21 cases (66.7%; 5/11 smears and 9/10 CB), and PAX5 was positive in 13/21 cases (61.9%; 9/11 smears and 4/10CB).

Conclusions: CD15, CD30, and PAX5 are useful to the FNAC identification of HC and RSC. CD30 is the most sensitive, followed by CD15 and PAX5, which are more effective on CB and smears, respectively.
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http://dx.doi.org/10.1002/dc.24366DOI Listing
March 2020

Zwei Gesichter derselben Krankheit.

J Dtsch Dermatol Ges 2018 Jul;16(7):932-935

Department of Advanced Biomedical Sciences, Pathology Section, University of Naples Federico II, Naples, Italy.

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http://dx.doi.org/10.1111/ddg.13522_gDOI Listing
July 2018

The double face of the same disease.

J Dtsch Dermatol Ges 2018 Jul 22;16(7):932-935. Epub 2018 May 22.

Department of Advanced Biomedical Sciences, Pathology Section, University of Naples Federico II, Naples, Italy.

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http://dx.doi.org/10.1111/ddg.13522DOI Listing
July 2018

It is no longer the time to disregard thyroid metastases from breast cancer: a case report and review of the literature.

BMC Cancer 2018 02 6;18(1):146. Epub 2018 Feb 6.

Department of Clinical Medicine and Surgery, University of Naples "Federico II", via Sergio Pansini, 80131, Naples, Italy.

Background: Metastases to the thyroid gland are more frequent than previously thought, although most of them are occult or not clinically relevant. Overall, only 42 cases of metastases to thyroid from breast cancer have been reported thus far. Here we report the case of a patient with breast cancer metastatic to the thyroid. We also review the 42 previously reported cases (published between 1962 and 2012). This is the first review about metastases to thyroid gland from breast cancer.

Case Presentation: A 64-year-old woman of Caucasian origin was diagnosed with a lobular invasive carcinoma of the breast (luminal A, stage II). She received adjuvant chemotherapy, followed by endocrine therapy. During follow-up, fine-needle cytology of a thyroid nodule revealed malignant cells that were estrogen-positive, which suggested a diagnosis of metastases to the thyroid. Imaging did not reveal any other metastatic site and showed only enlargement of the left thyroid lobe and an inhomogeneous pattern of colloid and cystic degeneration and calcifications. The patient underwent left hemithyroidectomy. Histology of thyroid tissue showed a colloid goitre containing dispersed small atypical neoplastic cells with eccentric nuclei. Immunohistochemistry showed cytokeratin-19 and oestrogen receptor, but not tireoglobulin, e-cadherin or cytokeratin-7, thereby confirming metastases from a lobular breast carcinoma. Hormonal treatment is ongoing.

Conclusion: This case report and first review of the literature on metastases to thyroid from breast cancer highlight the importance of a correct early diagnostic work-up in such cases. Indeed, a primary lesion should be distinguished from metastases given the different treatment protocol related to primary cancer and the clinical impact on prognosis.
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http://dx.doi.org/10.1186/s12885-018-4054-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5801832PMC
February 2018

Luminal-like HER2-negative stage IA breast cancer: a multicenter retrospective study on long-term outcome with propensity score analysis.

Oncotarget 2017 12 24;8(68):112816-112824. Epub 2017 Nov 24.

Clinical Medicine and Surgery Department, University of Naples Federico II, 80131 Naples, Italy.

The benefit of adding chemotherapy (CT) to adjuvant hormone therapy (HT) in stage IA luminal-like HER2-negative breast cancer (BC) is unclear. We retrospectively evaluated predictive factors and clinical outcome of 1,222 patients from 4 oncologic centers. Three hundred and eighty patients received CT and HT (CT-cohort) and 842 received HT alone (HT-cohort). Disease-free survival (DFS) and overall survival (OS) were evaluated with univariate and multivariate analyses. We also applied the propensity score methodology. Compared with the HT-cohort, patients in the CT-cohort were more likely to be younger, have larger tumors of a higher histological grade that were Ki67-positive, and lower estrogen and progesterone receptor expression. At univariate analysis, a higher histological grade and Ki67 were significantly associated to a lower DFS. At multivariable analysis, only histological grade was predictive of DFS. The CT-cohort had a worse outcome than the HT-cohort in terms of DFS and OS, but differences disappeared when matched according to propensity score. In summary, patients with stage IA luminal-like BC had an excellent prognosis, however relapse and mortality were higher in the CT-cohort than in the HT-cohort. Longer use of adjuvant HT or other therapeutic strategies may be needed to improve outcome.
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http://dx.doi.org/10.18632/oncotarget.22643DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5762553PMC
December 2017

Dermoscopy and reflectance confocal microscopy of osteoclastic deep benign fibrous histiocytoma.

G Ital Dermatol Venereol 2019 Jun 12;154(3):363-364. Epub 2017 Sep 12.

Unit of Dermatology, Luigi Vanvitelli University of Campania, Naples, Italy.

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http://dx.doi.org/10.23736/S0392-0488.17.05739-XDOI Listing
June 2019

Coexistent Squamous Cell Carcinoma and Granular Cell Tumor of Head and Neck Region: Report of Two Very Rare Cases and Review of the Literature.

Int J Surg Pathol 2018 Feb 7;26(1):47-51. Epub 2017 Aug 7.

1 Department of Advanced Biomedical Sciences, Pathology Section, University of Naples "Federico II", Naples, Italy.

Granular cell tumor (GCT), a relatively rare neuroectodermal tumor occurring most often in the head and neck region, is not uncommonly associated with pseudoepitheliomatous hyperplasia of the overlying surface epithelium, which may be at times nonreadily distinguishable from well-differentiated squamous cell carcinoma (SCC). To the best of our knowledge, only a handful of coexisting SCC and GCT, mostly described in the esophagus, have been reported in (the current) literature so far. We herein report 2 new cases of coexisting GCT and SCC of the head and neck region, located, respectively, in larynx and tongue; comment on their clinical, imaging, and pathologic features; and discuss their management. In the present work, we also review the literature concerning this association to contribute to the head and neck pathologists' and surgeons' awareness regarding the possibility of this association for an adequate surgical excision and a better management of these patients.
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http://dx.doi.org/10.1177/1066896917724513DOI Listing
February 2018

Young investigator challenge: Can the Ion AmpliSeq Cancer Hotspot Panel v2 be used for next-generation sequencing of thyroid FNA samples?

Cancer Cytopathol 2016 Nov 26;124(11):776-784. Epub 2016 Sep 26.

Department of Public Health, University of Naples "Federico II,", Naples, Italy.

Background: Fine-needle aspiration (FNA) cytology is accurate and cost-effective in the evaluation of thyroid nodules. Molecular techniques may contribute to risk stratification in indeterminate cases. Although next-generation sequencing (NGS) is a promising technique for the molecular testing of thyroid FNA specimens, thyroid-specific cancer gene panels are not commercially available. Conversely, the Ion AmpliSeq Cancer Hotspot Panel v2 (CHPv2), which includes the genes most frequently mutated in thyroid neoplasms, is commercially available and may represent an alternative to thyroid-specific panels. To the authors' knowledge to date, CHPv2 has performed well only on "ideal" cytological samples featuring abundant, high-quality DNA and satisfactory postsequencing metrics. The objective of the current study was to extend NGS to less-than-ideal samples, which represent a large percentage of routine clinical specimens.

Methods: A total of 37 thyroid smears were retrospectively analyzed using CHPv2, regardless of any preanalytical and postsequencing metric thresholds. Specifically, the authors evaluated the performance of CHPv2 on the BRAF, NRAS, HRAS, KRAS, and RET genes. Results were verified by pyrosequencing.

Results: Of the 37 thyroid FNA specimens, 34 (91.8%) were successfully processed. BRAF, NRAS, and RET somatic variants were detected in 22 of these 34 specimens (64.7%). NGS was found to have a high sensitivity (89.4%), specificity (85.7%), and accuracy (88.4%).

Conclusions: CHPv2 is a valid option for the molecular evaluation of thyroid FNA specimens by NGS. It is interesting to note that this approach is accurate and effective even when applied to routine cytology samples that usually do not have optimal preanalytical and postsequencing requirements. Cancer Cytopathol 2016;124:776-84. © 2016 American Cancer Society.
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http://dx.doi.org/10.1002/cncy.21780DOI Listing
November 2016

How do etiological factors can explain the different clinical features of patients with differentiated thyroid cancer and their histopathological findings?

Endocrine 2017 Apr 26;56(1):129-137. Epub 2016 May 26.

Department of Clinical Medicine and Surgery, University of Naples Federico II, Naples, Italy.

The aim was to retrospectively analyse the clinical-histopathological characteristics of patients with newly diagnosis of differentiated thyroid cancer (DTC) referred to two Italian centres, one in Northern and the other in Southern Italy, between 2000 and 2013. 1081 patients were included and subdivided into two groups: group A (474 patients from Novara) and group B (607 patients from Naples). The group A came from the industrial area of Novara, while the Group B came from the areas around Vesuvius and Campi Flegrei. The two groups were comparable for iodine levels, body mass index, diagnostic timing and clinical procedures. For all patients, demographic and clinical data were collected. No difference was found in gender, whereas the age at diagnosis was later in the group A (group A 53.1 ± 15.16 years, group B 41.9 ± 14.25 years, p < 0.001). In both groups, the most frequent histotype was papillary thyroid cancer (PTC) with prevalence of follicular variant in group A (p < 0.0001) and classical variant in group B (p < 0.0001). Aggressive histological features were mainly seen in group A (bilaterality p < 0.0001, multifocality p < 0.0001 and thyroid capsular invasion p < 0.0001). Microcarcinomas were more frequent in group A (p < 0.0001) but mostly characterized by bilaterality (p < 0.001) and multifocality (p < 0.04). In both groups, tumour-associated thyroiditis showed a significant increase over the years (group A p < 0.05, group B p < 0.04). Environmental factors could justify the differences found in our study. These preliminary data should stimulate the need for an Italian Cancer Registry of DTC in order to allow an epidemiological characterization, allowing the identification of specific etiological factors and an improvement in the management of the disease.
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http://dx.doi.org/10.1007/s12020-016-0992-8DOI Listing
April 2017

A rare case of true carcinosarcoma of the breast.

Int J Surg Case Rep 2016 10;21:125-8. Epub 2016 Mar 10.

Department of Clinical Medicine and Surgery, Faculty of Medicine and Surgery, University of Naples "Federico II", Via S. Pansini 5, 80131 Naples, Italy. Electronic address:

Background: True carcinosarcoma of the breast is an extremely rare condition, accounting for 0.08-0.2% of all breast malignancies. The correct definition of this tumor requires both a carcinomatous component and a malignant non-epithelial component of mesenchymal origin, without evidence of a transition zone between the two elements.

Case Presentation: We present a case of a 49-year-old woman presenting with a 4cm mass at the level of her left breast upper-outer quadrant with a histologic diagnosis of true carcinosarcoma of the breast.

Discussion: The most appropriate therapeutic regimens for breast carcinosarcoma are still unclear because of the rarity of this condition, but Breast Conserving Treatment (BCT) followed by adjuvant chemotherapy seems to provide a prognosis equalling that of usual Invasive Ductal Carcinoma of the breast.
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http://dx.doi.org/10.1016/j.ijscr.2016.03.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4802189PMC
April 2016

CD10, BCL6, and MUM1 expression in diffuse large B-cell lymphoma on FNA samples.

Cancer Cytopathol 2016 Feb 28;124(2):135-43. Epub 2015 Sep 28.

Department of Medicine and Surgery, University of Salerno, Salerno, Italy.

Background: Gene expression profiling has divided diffuse large B-cell lymphoma (DLBCL) into 2 main subgroups: germinal center B (GCB) and non-GCB type. This classification is reproducible by immunohistochemistry using specific antibodies such as CD10, B-cell lymphoma 6 (BCL6), and multiple myeloma oncogene 1 (MUM1). Fine-needle aspiration (FNA) plays an important role in the diagnosis of non-Hodgkin lymphoma, and in some cases FNA may be the only available pathological specimen. The objectives of the current study were to evaluate CD10, BCL6, and MUM1 immunostaining on FNA samples by testing the CD10, BCL6, and MUM1 algorithm on both FNA cell blocks (CB) and conventional smears (CS), evaluating differences in CB and CS immunocytochemical (ICC) performance, and comparing results with histological data.

Methods: Thirty-eight consecutive DLBCL cases diagnosed by FNA were studied. Additional passes were used to prepare CB in 22 cases and CS in 16 cases; the corresponding sections and smears were immunostained using CD10, BCL6, and MUM1 in all cases. The data obtained were compared with histological immunostaining in 24 cases.

Results: ICC was successful in 33 cases (18 CB and 15 CS) and not evaluable in 5 cases (4 CB and 1 CS). The CD10-BCL6-MUM1 algorithm subclassified DLBCL as GCB (9 cases) and non-GCB (24 cases). ICC data were confirmed on histologic staining in 24 cases.

Conclusions: CD10, BCL6, and MUM1 ICC staining can be performed on FNA samples. The results herein prove it is reliable both on CB and CS, and is equally effective and comparable to immunohistochemistry data.
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http://dx.doi.org/10.1002/cncy.21626DOI Listing
February 2016

Spindle epithelial tumor with thymus-like differentiation (SETTLE): clinical-pathological features, differential pathological diagnosis and therapy.

Endocrine 2016 Mar 20;51(3):402-12. Epub 2015 Aug 20.

Department of Clinical Medicine and Surgery, University of Naples Federico II, Naples, Italy.

Spindle epithelial tumor with thymus-like differentiation (SETTLE) is a very rare tumor of the thyroid gland. An algorithm for the diagnosis and treatment of SETTLE has yet to be established. The aim of this study was to identify all case reports of SETTLE and to compare the clinical-pathological features and therapy of the cases identified. We performed a PubMed search for case reports of SETTLE in English published up to November 2014 in which "SETTLE" and "Spindle epithelial tumor with thymus-like differentiation" were keywords. We identified 35 articles for a total of 42 cases. We found that SETTLE usually occurs in children and adolescents as an asymptomatic neck mass. Thyroid function tests and tumor markers are invariably within normal range in all patients, and fine needle aspiration biopsy is rarely diagnostic for SETTLE. All 42 patients had undergone thyroidectomy. After surgical resection, chemotherapy (adjuvant or first/second-line treatment) and/or radiotherapy were administered to control tumor growth in cases with metastatic involvement. Although SETTLE presents a low-grade malignancy, it can metastasize to lymph nodes, the mediastinum, lung, vertebrae, and kidney even many years after the initial diagnosis. SETTLE may have a good prognosis if appropriately treated at initial presentation and if patients undergo long-term monitoring with regular clinical and morphological evaluations.
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http://dx.doi.org/10.1007/s12020-015-0716-5DOI Listing
March 2016

Multiple splenic hamartomas and familial adenomatous polyposis: a case report and review of the literature.

J Med Case Rep 2015 Jul 4;9:154. Epub 2015 Jul 4.

General Surgery Unit - Advanced Biomedical Science Department, University Federico II of Naples, Via S. Pansini 5, 80131, Naples, Italy.

Introduction: Splenoma or splenic hamartoma is a rare primary splenic tumor most often discovered radiologically and incidentally. Splenic hamartomas have a strong association with solid and hematological malignancies and, in rare cases, with tuberous sclerosis, but to the best of our knowledge no reports of splenic hamartomas associated with familial adenomatous polyposis have been documented, although it is recognized that familial adenomatous polyposis presents a variety of extracolonic manifestations.

Case Presentation: We report on a very rare case of multiple splenic hamartomas in a 46-year-old white woman who had previously undergone surgery for restorative proctocolectomy for familial adenomatous polyposis. A computed tomography scan of her spleen revealed multiple small lesions which measured less than 1cm in diameter. A splenectomy was performed and a histologic examination of the splenectomy specimen revealed the presence of multiple hamartomas.

Conclusion: Incidence, differential diagnosis, diagnostic procedures, pathologic findings and treatment of splenic hamartomas are discussed here and hamartomas are considered in a differential diagnosis of splenic tumors. A splenectomy is indicated in cases where malignancy cannot be excluded and in cases of associated hematologic disorders. To the best of our knowledge our patient is the first reported case to have splenic hamartomas identified in a familial adenomatous polyposis-affected patient with mutation in exon 15 of the APC gene. At this time it is not possible to correlate with certainty our multiple splenic hamartomas and familial adenomatous polyposis case as a clinical manifestation of the mutation of APC gene; however, we believe that this case report could be important for further observation of similar cases in the future.
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http://dx.doi.org/10.1186/s13256-015-0627-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4507323PMC
July 2015

Multidisciplinary diagnostic approach combining fine needle aspiration, core needle biopsy and imaging features of a presacral myelolipoma in a patient with concurrent breast cancer.

Pathol Res Pract 2015 Mar 23;211(3):261-3. Epub 2014 Dec 23.

Department of Public Health, University of Naples "Federico II", Italy. Electronic address:

Myelolipomas are uncommon benign tumors composed of mature adipose tissue mixed with hematopoietic elements; these tumors can occur in both the adrenal glands and extra-adrenal locations, the presacral region being the most frequent extra-adrenal site. We present a case of presacral myelolipoma diagnosed by fine needle aspiration (FNA) and core needle biopsy (CNB) in a 55-year-old woman with concurrent invasive ductal breast cancer. TC and RM imaging were consistent with the diagnosis of presacral myelolipoma. The lesion was discovered incidentally during the staging procedure for breast malignancy. The purpose of our work is to describe the FNA and CNB finding in combination with the imaging features of this uncommon lesion.
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http://dx.doi.org/10.1016/j.prp.2014.12.004DOI Listing
March 2015

Neuroendocrine differentiation in breast carcinoma with osteoclast-like giant cells. Report of a case and review of the literature.

Int J Surg 2014 6;12 Suppl 2:S8-S11. Epub 2014 Sep 6.

Department of Medicine and Surgery, University of Salerno, Salerno, Italy. Electronic address:

Osteoclast-like giant cells (OGCs) may occur in several types of breast carcinomas (BS). Neuroendocrine differentiation may be present in BS but, associated with OGCs, neuroendocrine differentiation has been rarely reported. A case of invasive ductal carcinoma with OGCs and neuroendocrine differentiation diagnosed by fine needle cytology (FNC) is described. A 72-year-old woman with a nodular lesion of the right breast underwent to fine-needle cytology (FNC) The smears showed a dissociated cell population of monomorphous, mononucleated atypical cells with interspersed multinucleated giant cells osteoclast-like. The mononuclear cell component showed plasmacytoid features and frequent vacuoles of secretion. Immunostaining (IHC) performed on cell block sections showed oestrogen receptor positivity in the mononucleated cells and OGCs positivity for LCA and CD68. Histologically the tumour showed cell nests or cords separated by thin fibrovascular septa. The neoplastic cells were monomorphic, with round-oval nuclei, granular chromatin and evident nucleoli. The cytoplasm was indistinct and eosinophilic, finely granular, often containing eosinophilic globules that were positive at the PAS and mucicarmine stainings. Numerous non-neoplastic OGCs were also detected in the interstitial septa. The ICH showed positivity of the tumoral cells for E-Cadherin, oestrogen and progesterone receptors and c-ErbB2 negativity. Mitotic index was inconspicuous with a low Ki67 positivity rate (<10%). OCGs were CD68 and LCA positive. IHC also showed strong positivity for the chromogranin and synaptophysin. A diagnosis of invasive ductal BC with OGCs and neuroendocrine differentiation was performed. The expression of chromogranin and synaptophysin was then retrospectively assessed on CB sections too. The identification of OGCs component on breast FNA samples is not difficult, depending on a good sampling only. On contrary, the neuroendocrine differentiation still represents still a challenge in breast FNC.
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http://dx.doi.org/10.1016/j.ijsu.2014.08.392DOI Listing
June 2015

Advanced-stage Hodgkin lymphoma: US/chest radiography for detection of relapse in patients in first complete remission--a randomized trial of routine surveillance imaging procedures.

Radiology 2014 Jul 6;272(1):262-74. Epub 2014 Apr 6.

From the Departments of Clinical Medicine and Surgery (M.P., N.P., M.C., C.Q., F.P.), and Advanced Biomedical Science (I.C., G.C., G.P.), Federico II University Medical School, Naples, Italy; Department of Medicine and Surgery, University Medical School, Salerno, Italy (P.Z.); and Department of Economics, Management, Society and Institutions, University of Molise, Campobasso, Italy (C.S.).

Purpose: To compare the use of fluorine 18 fluorodeoxyglucose (FDG) positron emission tomography (PET)/computed tomography (CT) with the use of a combination of ultrasonography (US) and chest radiography for systematic follow-up of patients with high-risk Hodgkin lymphoma.

Materials And Methods: Institutional review board approval and informed consent were obtained. In a single center between January 2001 and December 2009, patients with advanced-stage Hodgkin lymphoma who had responded completely to first-line treatment were randomly assigned (1:1) to follow-up with either PET/CT or US/chest radiography. Follow-up included clinical and imaging procedures at 4, 8, 12, 16, 20, 24, 30, 36, 48, 60, 84, and 108 months after treatment discontinuation. When clinical and/or imaging results were positive, recurrence was confirmed histologically. The primary endpoint was to compare the sensitivity of the two follow-up imaging approaches. Secondary endpoints were their specificity, positive and negative predictive values, time to recurrence detection, radiation risks, and costs.

Results: A total of 300 patients were randomized into the two arms. The study was closed after a median follow-up time of 60 months, with a relapse rate of 27%. Sensitivity for detection of Hodgkin lymphoma was similar for the two follow-up approaches. All of the relapses (40 of 40) were identified with FDG PET/CT (100%) and 39 of 40 relapses were identified with US/chest radiography (97.5%; P = .0001 for the equivalence test). US/chest radiography showed significantly higher specificity and positive predictive value than did PET/CT (96% [106 of 110] vs 86% [95 of 110], respectively; P = .02; and 91% [39 of 43] vs 73% [40 of 55], respectively; P = .01). Exposure to ionizing radiation was estimated to be 14.5 mSv for one PET/CT examination versus 0.1 mSv for one chest radiographic examination. Estimated cost per relapse diagnosed with routine PET/CT was 10-fold higher compared with that diagnosed with routine US/chest radiography.

Conclusion: US and chest radiography are diagnostic tools that enable effective, safe, and low-cost routine surveillance imaging for patients at high risk of Hodgkin lymphoma relapse.
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http://dx.doi.org/10.1148/radiol.14132154DOI Listing
July 2014

Giant breast tumors in a patient with Beckwith-Wiedemann syndrome.

Am J Med Genet A 2014 Jan 8;164A(1):182-5. Epub 2013 Nov 8.

Department of Translational Medicine, Section of Pediatrics, Federico II University, Naples, Italy.

Beckwith-Wiedemann syndrome (BWS) is an overgrowth disorder with increased risk of embryonal tumors, such as Wilms tumor, hepatoblastoma, neuroblastoma, and rhabdomyosarcoma. We report on a patient with BWS that developed a giant fibroadenoma of the breast that was surgically removed. The tumor relapsed 8 months after the surgery and the patient underwent partial mastectomy. Although the patient presented several clinical features of BWS, a molecular diagnosis was not achieved despite extensive molecular investigations on both blood and tumor tissue. A SNP array revealed a de novo 7p22.1 loss in both blood and breast tumor involving the mismatch repair gene PMS2 gene that may be potentially associated with the breast tumor. In conclusion, it remains unclear whether BWS patients have an increased risk of breast lesions or a yet unknown molecular defect is responsible for the rare occurrence of this tumor in BWS.
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http://dx.doi.org/10.1002/ajmg.a.36191DOI Listing
January 2014

Multifocal thoracic chordoma mimicking a paraganglioma.

J Cancer Res Ther 2013 Jul-Sep;9(3):497-9

Department of Anaesthesiologic, Surgical and Emergency Science, VII Division of General and Endocrine Surgery, Second University of Naples, Naples, Italy.

Chordoma of thoracic vertebras is a very rare locally invasive neoplasm with low grade malignancy arising from embryonic notochordal remnants. Radical surgery remains the cornerstone of the treatment. We describe a case of multifocal T1-T2 chordoma, without bone and disc involvement, incidentally misdiagnosed as a paraganglioma, occurring in a 47-year-old male asymptomatic patient. Neoplasm was radically removed by an endocrine surgeon through a right extended cervicotomy. A preoperative reliable diagnosis of chordoma, as in the reported case, is often difficult. Radical surgery can provide a favorable outcome but, given the high rates of local recurrence of this neoplasm, a strict and careful follow-up is recommended. Although very rare, chordoma should be suggested in the differential diagnosis of the paravertebral cervical masses of unknown origin. Spine surgeon consultation and a FNB should be routinely included in the multidisciplinary preoperative work-up of these neoplasms.
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http://dx.doi.org/10.4103/0973-1482.119312DOI Listing
August 2014

Lobular intraepithelial neoplasia arising within breast fibroadenoma.

BMC Res Notes 2013 Jul 12;6:267. Epub 2013 Jul 12.

University Department of Clinical Medicine and Surgery, Breast Unit, University of Naples Federico II, Naples, Italy.

Background: Fibroadenomas are the second most common breast pathology occurring in young women under the age of 35 years old. Fibroadenomas can be classified as simple or complex according to histological features. Complex fibroadenomas differ from simple fibroadenomas because of the presence of cysts (3 mm), sclerosing adenosis, epithelial calcifications, or papillary apocrine changes. Most fibroadenomas are clinically identifiable. In 25% of cases, fibroadenomas are non-palpable and are diagnosed with mammography and ultrasound. Differential diagnosis with well differentiated breast cancer is often necessary, particularly with medullary or mucinous tumors. Calcification findings within fibroadenomas by mammogram have to be investigated. The age of a lump is usually reflected by calcifications. Microcalcification can hide foci of carcinoma in situ when they are small, branching type, and heterogeneous. However, many morphological possibilities may not be reliable for deciding whether a certain calcification is the product of a malignant or a benign process. From a radiological point of view, fibroadenomas containing foci of carcinoma in situ can be indistinguishable from benign lesions, even if the incidence of carcinoma within fibroadenomas is estimated as 0.1-0.3%, and it could be a long-term risk factor for invasive breast cancer.

Case Presentation: A 44-year-old woman presented with a 1.5-cm palpable, smooth, mobile lump in the lower-inner quadrant of her right breast. Standard mediolateral oblique and craniocaudal mammograms showed a cluster of eccentric popcorn-like calcifications within the fibroadenoma. After lumpectomy, a definitive histological examination confirmed the intra-operative diagnosis of a benign mass. However, lobular intraepithelial neoplasia foci were found, surrounded by atypical lobular hyperplasia.

Conclusions: The possibility of an old benign breast lump might be supported by fine needle aspiration biopsy or core biopsy before initiating follow-up. According to our experience, when patients are older than 40 years and have a familial history of breast cancer, we prefer to carry out lumpectomy with follow up to avoid the risk of underestimation in situ foci within the lump.
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http://dx.doi.org/10.1186/1756-0500-6-267DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3716517PMC
July 2013

Isolated mediastinal amyloidosis mimicking a neoplastic lesion.

Gen Thorac Cardiovasc Surg 2014 May 13;62(5):324-6. Epub 2013 Apr 13.

Thoracic Surgery Unit, Second University of Naples, Piazza Miraglia 2, 80138, Naples, Italy.

Isolated mediastinal amyloidosis is a rare condition. We report an unusual case of amyloid presented as an isolated mass, entirely confined within anterior mediastinum and FDG-avid, mimicking a neoplastic lesion. Because the differential diagnosis included several diseases as lymphoma, a biopsy via mediastinotomy was attended to avoid unnecessary sternotomy. The pathological results diagnosed to be an amyloidosis. The patient was asymptomatic and biopsy allowed an exact diagnosis, thus we decided against the complete excision. No monoclonal gammopathy and/or amyloid deposition were found. Thus, other treatments as high-dose melphalan and/or autologous stem cell transplantation were not indicated.
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http://dx.doi.org/10.1007/s11748-013-0251-3DOI Listing
May 2014

Medullary breast carcinoma in an 18-year-old female: report on one case diagnosed on fine-needle cytology sample.

Diagn Cytopathol 2014 May 22;42(5):445-8. Epub 2013 Jan 22.

Serviço de Anatomia Patologica, Centro Hospitalar de Lisboa Ocidental, Lisbon, Portugal.

Medullary breast carcinoma (MBC) is a rare epithelial malignancy of the breast accounting for about 1-7% of all breast carcinomas. It is characterized by well-defined borders, a syncytial/solid pattern of growth of high grade atypical cells showing no glandular differentiation and a massive diffuse lympho-plasmacytic peritumoral infiltrate. Despite the high-grade atypias characterizing this neoplasm, MBC has been reported to have a better prognosis when compared with the common infiltrating duct carcinoma. MBCs typically lack estrogen and progesterone receptor (ER and PgR) expression and have a low incidence of ERBB2 overexpression. Genetically, they are often associated with BRCA-1 oncogene mutations and TP53 alterations. While MBC generally occurs in middle-aged women, ranging from 45 to 52 years of age, we report the case of a 18-year-old female patient which was diagnosed by means of fine-needle cytology sample.
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http://dx.doi.org/10.1002/dc.22947DOI Listing
May 2014

Partial response to cinacalcet treatment in a patient with secondary hyperparathyroidism undergoing hemodialysis: a case report.

J Med Case Rep 2012 Dec 11;6:417. Epub 2012 Dec 11.

Department of Anesthesiology, Surgical and Emergency Science, VII Division of General and Endocrine Surgery, Second University of Naples, Via Gen, G, Orsini 42, Napoli, 80132, Italy.

Unlabelled:

Introduction: In the treatment of secondary hyperparathyroidism of chronic kidney disease, calcimimetics - allosteric modulators of the calcium-sensing receptor - inhibit glandular hyperplasia and significantly reduce circulating parathyroid hormone levels. They have a major impact on the management of secondary hyperparathyroidism.

Case Presentation: We present the clinical case of a 41-year-old Caucasian man undergoing chronic hemodialysis, who had a parathyroidectomy to treat severe secondary hyperparathyroidism resistant to cinacalcet treatment. Preoperatively, 24 months after high-dose cinacalcet hydrochloride, we observed a persistently elevated intact parathyroid hormone serum level, and detected clear parathyroid gland hyperplasia regression on ultrasound. We performed a three-gland parathyroidectomy, which was assumed to be total, associated with a hemithyroidectomy. Our patient then entered a hypoparathyroid state. A histopathological examination showed that the removed parathyroid glands were of small size, with a total weight of 1g, associated with a multifocal small papillary thyroid cancer.

Conclusion: In the management of secondary hyperparathyroidism, cinacalcet hydrochloride effectively reduces total parathyroid gland hyperplasia. However, a persisting elevated intact parathyroid hormone serum level may be observed, demonstrating that reduced parathyroid hyperplastic tissue may still be associated with severe secondary hyperparathyroidism. Even if calcimimetics are very effective in secondary hyperparathyroidism treatment, further studies are necessary for a better understanding of their actions.
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http://dx.doi.org/10.1186/1752-1947-6-417DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3533871PMC
December 2012

Lymph node Fine Needle Cytology, Epstein Barr virus infection and Hodgkin Lymphoma.

Infez Med 2012 ;20 Suppl 3:34-8

Dipartimento di Scienze Biomorfologiche e Funzionali, Universita degli Studi di Napoli Federico II, Napoli, Italy.

Epstein-Barr virus (EBV) is a double-stranded DNA virus of the herpes family; it is one of the most common human viruses and it is associated with a wide spectrum of benign and malignant conditions. EBV is related to the development of several neoplasms, globally 1% of tumours, including lymphoproliferative, epithelial and mesenchymal neoplasm. Lymphoproliferative disorders include Hodgkin lymphoma (HL) and B and T cell non-Hodgkin lymphomas. HL is one of the most common lymphoma in the developed world, affecting both young people and adults. HL pathogenesis is complex and includes various and partially unknown mechanisms. EBV has been detected in some HL neoplastic cells and expresses genes with a potential oncogenic function, therefore many studies suggest that viral infections have a causative role in neoplastic transformation. Fine Needle Cytology (FNC) is extensively used in the first diagnosis of any lymph-nodal enlargement, including reactive lymphadenopathies and lymphoproliferative processes; therefore cytopathologists are likely to encounter EBV-associated malignancies in cytology samples, mainly HL, which is one of the most common lymphoma. This study focuses on the cytological features and ancillary studies required to diagnose EBV-related HL.
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April 2016

Pure primary squamous cell carcinoma of the breast presenting as an intracystic tumor.

Breast J 2012 Nov-Dec;18(6):608-9. Epub 2012 Sep 26.

Department of General, Geriatric, Oncologic Surgery and Advanced Technologies, Faculty of Medicine and Surgery, University Federico II of Naples, Via S. Pansini 5, 80131 Naples, Italy.

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http://dx.doi.org/10.1111/tbj.12017DOI Listing
April 2013

Tomographic imaging of the spleen: the role of morphological and metabolic features in differentiating benign from malignant diseases.

Clin Imaging 2012 Sep-Oct;36(5):559-67. Epub 2012 Jun 8.

IBB CNR, Napoli, Via Pansini 5, 80131 Naples, Italy.

To evaluate the tomographic features in differentiating benign from malignant splenic diseases, 54 patients with a cytohistological examination and a contrast-enhanced multidetector computed tomography (ce-MDCT) and/or positron emission tomography/computed tomography (PET/CT) were retrospectively selected. Significant associations were observed between ce-MDCT Pattern 3 (focal hyperdense lesion) and Pattern 4 (infarcts/cysts) as well as PET/CT Pattern 3 (focal photopenia/diffuse uptake
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http://dx.doi.org/10.1016/j.clinimag.2012.01.015DOI Listing
February 2013

Primary hepatic lymphoma in a patient with previous rectal adenocarcinoma: a case report and discussion of etiopathogenesis and diagnostic tools.

Int J Hematol 2012 Mar 21;95(3):320-3. Epub 2012 Feb 21.

Dipartimento di Endocrinologia ed Oncologia Molecolare e Clinica, Università di Napoli Federico II, Via Sergio Pansini 5, 80131 Naples, Italy.

Primary hepatic lymphoma is an extremely rare malignancy accounting for 0.016% of all cases of non-Hodgkin lymphomas. Approximately 1-4% of histologies described show a follicular pattern. We report a case of primary hepatic non-Hodgkin lymphoma that developed in a middle-aged woman 3 years after radical treatment (neoadjuvant chemoradiotherapy and surgery) for a rectal adenocarcinoma. Abdomen ultrasound showed a single nodule in the liver, which raised the issue of differential diagnosis with a metastasis from rectal cancer. After surgical removal of the nodule, histology revealed a primary B cell, stage IE follicular non-Hodgkin lymphoma, confined to the liver; indeed, no foci of lymphoma were found elsewhere in the body.
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http://dx.doi.org/10.1007/s12185-012-1025-xDOI Listing
March 2012

CDH16/Ksp-cadherin is expressed in the developing thyroid gland and is strongly down-regulated in thyroid carcinomas.

Endocrinology 2012 Jan 25;153(1):522-34. Epub 2011 Oct 25.

Istituto di Endocrinologia ed Oncologia Sperimentale del Consiglio Nazionale delle Ricerche, 80131 Napoli, Italy.

Cadherin (CDH)16/kidney-specific-cadherin was first described as a kidney-specific adhesion molecule and thereafter found expressed also in the thyroid gland. We show here that CDH16 fully colocalizes with CDH1/E-cadherin on the basolateral plasma membrane of mouse and human thyrocytes. In thyrocyte cultures, the expression of CDH16 is dependent upon TSH, as other thyroid differentiation markers. In the developing mouse thyroid, CDH16 is expressed at embryonic day 10.5, 1-2 d after the main thyroid-specific transcription factors involved in thyroid cell differentiation. In human thyroid carcinomas, as determined by quantitative RT-PCR, CDH16 expression decreases in papillary, follicular, and anaplastic thyroid carcinomas, and the decrease is more pronounced than that of CDH1. Moreover, by immunofluorescence and confocal microscopy, it appears that although CDH16-negative tumor cells may still be positive for CDH1, CDH1-negative cells are also negative for CDH16, indicating a more extensive loss of the latter and suggesting that CDH16 loss might precede that of CDH1. Loss of CDH16 appears to be a marker of epithelial-mesenchymal transition as indicated by its decrease in cultured thyroid cells after TGF-β treatment. Finally, the decrease in CDH16 is paralleled in part by the decrease in α B-crystallin, which was proposed to mediate the interaction of CDH16 cytosolic tail with the cell cytoskeleton. In conclusion, CDH16 is a thyroid-selective and hormone-dependent adhesion protein that might play a role during thyroid development and that may be a useful marker to monitor thyroid carcinomas.
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http://dx.doi.org/10.1210/en.2011-1572DOI Listing
January 2012