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.
Highlights
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
None of the examined patients had received chemotherapy or had had previous malignant tumors, pharyngeal carcinoma developed in patient #2 after the nephrectomy
We reviewed 2804 nephrectomy cases and identified 28 Xp11.2 translocation RCCs
Summary
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]. 3 1st Department of Pathology and Experimental Cancer Research, Semmelweis University, Budapest, Hungary were identified including ASPL-TFE3: t(X;17)(p11.2;q25), PSF-TFE3: t(X;1)(p11.2;p34), PRCC-TFE3: t(X;1)(p11.2;q21), CLTC-TFE3: t(X;17)(p11.2;q23) and NonO-TFE3: t(X)(p11.2q12) so far in the literature [2,3,4,5]. The three main aims of this retrospective study were: (1) to determine the frequency of Xp11.2 RCC in a large set of surgically treated renal tumors; (2) to provide detailed survival data; and (3) to analyze the morphological features with immunohistochemical and genetic profile to help pathologists establish an accurate histological diagnosis
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