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Fusion of the transcription factor TFE3 gene to a novel gene, PRCC, in t(X;1)(p11;q21)-positive papillary renal cell carcinomas.

ABSTRACT: The (X;1)(p11;q21) translocation is a recurrent chromosomal abnormality in a subset of human papillary renal cell carcinomas, and is sometimes the sole cytogenetic abnormality present. Via positional cloning, we were able to identify the genes involved. The translocation results in a fusion of the transcription factor TFE3 gene on the X chromosome to a novel gene, designated PRCC, on chromosome 1. Through this fusion, reciprocal translocation products are formed, which are both expressed in papillary renal cell carcinomas. PRCC is ubiquitously expressed in normal adult and fetal tissues and encodes a putative protein of 491 aa with a relatively high content of prolines. No relevant homologies with known sequences at either the DNA or the protein level were found.

SUBMITTER: Weterman MA

PROVIDER: S-EPMC26398 | biostudies-literature | 1996 Dec

REPOSITORIES: biostudies-literature

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Fusion of the transcription factor TFE3 gene to a novel gene, PRCC, in t(X;1)(p11;q21)-positive papillary renal cell carcinomas.

Weterman M A MA Wilbrink M M Geurts van Kessel A A

Proceedings of the National Academy of Sciences of the United States of America 19961201 26

The (X;1)(p11;q21) translocation is a recurrent chromosomal abnormality in a subset of human papillary renal cell carcinomas, and is sometimes the sole cytogenetic abnormality present. Via positional cloning, we were able to identify the genes involved. The translocation results in a fusion of the transcription factor TFE3 gene on the X chromosome to a novel gene, designated PRCC, on chromosome 1. Through this fusion, reciprocal translocation products are formed, which are both expressed in papi ...[more]

PMID: 8986805

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Project description:BACKGROUND:To investigate the contrast-enhanced ultrasound (CEUS) findings of renal cell carcinoma (RCC) associated with Xp11.2 translocation/TFE3 gene fusion (Xp11.2/TFE3) in adult patients by comparison with those of clear cell RCC (ccRCC) and papillary RCC (pRCC). METHODS:In total, 110 patients (110 renal masses) who underwent CEUS examinations were enrolled in this study. The cases included 18 Xp11.2/TFE3 RCCs, 60 ccRCCs and 32 pRCCs. All masses were confirmed by operative pathology. The CEUS imaging data of these patients were retrospectively analysed by two readers. The conventional US and CEUS features of Xp11.2/TFE3 RCC were compared with those of ccRCC and pRCC. RESULTS:The age of the patients with Xp11.2/TFE3 RCC ranged from 20 to 68?years, with a mean age of 38.3?±?16.3?years and a slight female predominance. The weighted kappa value that interprets the concordance between the interobserver agreement of the US and CEUS features ranged from 0.61 to 0.89. On conventional US and CEUS imaging of Xp11.2/TFE3 RCCs, the tumours were hypoechoic (6/18, 33.3%), isoechoic (8/18, 44.4%), and hyperechoic (4/18, 22.2%). The cystic component was present in 5 cases (27.8%), calcification was present in 9 cases (50.0%), and colour flow signal was present in 7 cases (38.9%). Most cases showed simultaneous wash-in (11/18, 61.1%); the peak enhancement showed hypoenhancement (6/18, 33.3%), isoenhancement (10/18, 55.6%), and hyperenhancement (2/18, 11.1%); most cases exhibited heterogeneous enhancement (12/18, 66.7%) and fast- or simultaneous-out (16/18, 88.9%); and a pseudocapsule was present in 6 cases (33.3%). In the multivariate logistic regression analysis, calcification and lower peak enhancement were more likely to be present in Xp11.2/TFE3 RCC than in ccRCC (P?<?0.05), and younger age and relatively high peak enhancement were more likely to be present in Xp11.2/TFE3 RCC than in pRCC (P?<?0.05). The calcification combined peak enhancement model differentiated Xp11.2/TFE3 RCC from ccRCC, and the age combined peak enhancement model differentiated Xp11.2/TFE3 RCC from pRCC with an AUC, a sensitivity and a specificity of 0.896, 94.4% and 73.3% and 0.786, 50.0% and 100.0%, respectively. CONCLUSIONS:The specific CEUS features combined with demographic information and clinical symptoms may be helpful for differentiating Xp11.2/TFE3 RCC from ccRCC and pRCC.

Project description:The unbalanced translocation, der(17)t(X;17)(p11.2;q25), is characteristic of alveolar soft part sarcoma (ASPS). We have recently shown that this translocation fuses the TFE3 transcription factor gene at Xp11.2 to ASPL, a novel gene at 17q25. We describe herein eight morphologically distinctive renal tumors occurring in young people that bear the identical ASPL-TFE3 fusion transcript as ASPS, with the distinction that the t(X;17) translocation is cytogenetically balanced in these renal tumors. A relationship between these renal tumors and ASPS was initially suggested by the cytogenetic finding of a balanced t(X;17)(p11.2;q25) in two of the cases, and the ASPL-TFE3 fusion transcripts were then confirmed by reverse transcriptase-polymerase chain reaction. The morphology of these eight ASPL-TFE3 fusion-positive renal tumors, although overlapping in some aspects that of classic ASPS, more closely resembles renal cell carcinoma (RCC), which was the a priori diagnosis in all cases. These tumors demonstrate nested and pseudopapillary patterns of growth, psammomatous calcifications, and epithelioid cells with abundant clear cytoplasm and well-defined cell borders. By immunohistochemistry, four tumors were negative for all epithelial markers tested, whereas four were focally positive for cytokeratin and two were reactive for epithelial membrane antigen (EMA) (one diffusely, one focally). Electron microscopy of six tumors demonstrated a combination of ASPS-like features (dense granules in four cases, rhomboid crystals in two cases) and epithelial features (cell junctions in six cases, microvilli and true glandular lumens in three cases). Overall, although seven of eight tumors demonstrated at least focal epithelial features by electron microscopy or immunohistochemistry, the degree and extent of epithelial differentiation was notably less than expected for typical RCC. We confirmed the balanced nature of the t(X;17) translocation by fluorescence in situ hybridization in all seven renal tumors thus analyzed, which contrasts sharply with the unbalanced nature of the translocation in ASPS. In summary, a subset of tumors previously considered to be RCC in young people are in fact genetically related to ASPS, although their distinctive morphological and genetic features justify their classification as a distinctive neoplastic entity. Finally, the finding of distinctive tumors being associated with balanced and unbalanced forms of the same translocation is to our knowledge, unprecedented.

Dataset Information

Fusion of the transcription factor TFE3 gene to a novel gene, PRCC, in t(X;1)(p11;q21)-positive papillary renal cell carcinomas.

Publications

Fusion of the transcription factor TFE3 gene to a novel gene, PRCC, in t(X;1)(p11;q21)-positive papillary renal cell carcinomas.

Similar Datasets

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