Clinicopathological Findings on 28 Cases with XP11.2 Renal Cell Carcinoma

• DOI: 10.1007/s12253-019-00792-0
• Publication Date: 2020-01-18T09:02:42Z
• Authors: Levente Kuthi; Áron Somorácz; Tamás Micsik; Alex Jenei; Adrienn Hajdu; István Sejben; Dániel Imre; Boglárka Pósfai; Katalin Kóczián; Dávid Semjén; Zoltán Bajory; Janina Kulka; Béla Iványi
• Keywords: TFE3; Immunophenotyping

Xp11.2 translocation carcinoma is a distinct subtype of renal cell characterized by translocations involving the TFE3 gene. Our study included morphological, immunohistochemical and clinicopathological examination 28 RCCs. The immunophenotype has been assessed using CA9, CK7, CD10, AMACR, MelanA, HMB45, Cathepsin K immunostainings. diagnosis was confirmed break-apart FISH in 25 cases. ages 13 male 15 female patients, without underlying disease or having undergone chemotherapy ranged from 8 to 72. mean size tumors 78.5 mm. Forty-three percent patients were diagnosed pT3/pT4 stage with distant metastasis 6 Histological appearance branching-papillary composed clear cells voluminous cytoplasm variable cases, including one tumor anaplastic another rhabdoid morphology. Three labeled while CK7 negative all Diffuse CD10 reaction observed 17 diffuse AMACR positivity described 14 tumors. expression melanocytic markers seen only 7 respectively. immunohistochemistry displayed positive 26/28 samples. rearrangement detected analyzed cases (25/25), loss entire break-point region. follow-up time 2 300 months, cancer-related deaths. In summary, an uncommon form histomorphology rather aggressive clinical course.