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Adult‐onset renal cell carcinoma associated with Xp11.2 translocations/ TFE3 gene fusion with smooth muscle stroma and abnormal vessels
Author(s) -
Kuroda Naoto,
Tamura Masato,
Tanaka Yukichi,
Hes Ondrej,
Michal Michal,
Inoue Kaori,
Ohara Masahiko,
Mizuno Keiko,
Lee GangHong
Publication year - 2009
Publication title -
pathology international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.73
H-Index - 74
eISSN - 1440-1827
pISSN - 1320-5463
DOI - 10.1111/j.1440-1827.2009.02398.x
Subject(s) - tfe3 , pathology , fusion gene , renal cell carcinoma , nuclear atypia , biology , stroma , immunohistochemistry , chromosomal translocation , carcinoma , medicine , gene expression , gene , genetics , promoter
Renal cell carcinoma (RCC) associated with Xp11.2 translocation/ TFE3 gene fusion has been recently identified. Herein is presented a case of RCC with Xp11.2 translocations/ TFE3 gene fusions with unusual histological findings. A 68‐year‐old Japanese woman was incidentally found to have a renal mass on CT. Histological examination showed clear cell neoplasm with alveolar and papillary growth patterns. The nuclear atypia corresponded to Fuhrman grade 3. Additionally, smooth muscle stroma was observed and abnormal vessels showing a heterogeniety in thickness were also identified. On immunohistochemistry, neoplastic cells were diffusely positive for transcription factor E3 (TFE3) and Melan A, and focally positive for CD10 and RCC marker. The smooth muscle stroma was positive for α‐smooth muscle actin and h‐caldesmon, but reverse transcription–polymerase chain reaction of the tumor using frozen material could not detect any previously reported chimeric transcripts including ASPL‐TFE3, PRCC‐TFE3, CLTC‐TFE3 , PSF‐TFE3 or NoNo‐TFE3 . G‐band karyotype was unsuccessful. Pathologists should pay attention to the afore‐described unusual stromal reaction of adult‐onset RCC associated with Xp11.2 translocations/ TFE3 gene fusions.