Clinicopathological Findings on 28 Cases with XP11.2 Renal Cell Carcinoma
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ORIGINAL ARTICLE
Clinicopathological Findings on 28 Cases with XP11.2 Renal Cell Carcinoma Levente Kuthi 1 & Áron Somorácz 2 & Tamás Micsik 3 & Alex Jenei 1 & Adrienn Hajdu 1 & István Sejben 4 & Dániel Imre 5 & Boglárka Pósfai 6 & Katalin Kóczián 7 & Dávid Semjén 8 & Zoltán Bajory 9 & Janina Kulka 2 & Béla Iványi 1 Received: 30 August 2019 / Accepted: 30 December 2019 # The Author(s) 2020
Abstract Xp11.2 translocation carcinoma is a distinct subtype of renal cell carcinoma characterized by translocations involving the TFE3 gene. Our study included the morphological, immunohistochemical and clinicopathological examination of 28 Xp11.2 RCCs. The immunophenotype has been assessed by using CA9, CK7, CD10, AMACR, MelanA, HMB45, Cathepsin K and TFE3 immunostainings. The diagnosis was confirmed by TFE3 break-apart FISH in 25 cases. The ages of 13 male and 15 female patients, without underlying renal disease or having undergone chemotherapy ranged from 8 to 72. The mean size of the tumors was 78.5 mm. Forty-three percent of patients were diagnosed in the pT3/pT4 stage with distant metastasis in 6 cases. Histological appearance was branching-papillary composed of clear cells with voluminous cytoplasm in 13 and variable in 15 cases, including one tumor with anaplastic carcinoma and another with rhabdoid morphology. Three tumors were labeled with CA9, while CK7 was negative in all cases. Diffuse CD10 reaction was observed in 17 tumors and diffuse AMACR positivity was described in 14 tumors. The expression of melanocytic markers and Cathepsin K were seen only in 7 and 6 cases, respectively. TFE3 immunohistochemistry displayed a positive reaction in 26/28 samples. TFE3 rearrangement was detected in all the analyzed cases (25/ 25), including one with the loss of the entire labeled break-point region. The follow-up time ranged from 2 to 300 months, with 7 cancer-related deaths. In summary, Xp11.2 carcinoma is an uncommon form of renal cell carcinoma with a variable histomorphology and rather aggressive clinical course. Keywords Translocation renal cell carcinoma . Xp11.2 . Immunohistochemistry . TFE3 gene . Fluorescence in situ hybridization (FISH)
Introduction In the current classification scheme there are 13 distinct types of renal cell carcinoma (RCC), and one of them is the Xp11.2
translocation RCC. It is a rare subtype and is characterized by different translocations involving the transcription factor 3 gene (TFE3), that leads to a new fusion gene encoding an aberrant transcription factor [1]. Five common partner genes
Levente Kuthi and Áron Somorácz contributed equally to this work. * Levente Kuthi [email protected] 1
Department of Pathology, University of Szeged, 1 Állomás Street, Szeged H-6725, Hungary
2
2nd Department of Pathology, Semmelweis University, Budapest, Hungary
3
1st Department of Pathology and Experimental Cancer Research, Semmelweis University, Budapest, Hungary
4
Department of Pathology, Bács-Kiskun County Teaching Hospital, Kecskemét, Hungary
5
Department of Pathology, Hetényi Géz
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