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A novel RBMX‐TFE3 gene fusion in a highly aggressive pediatric renal perivascular epithelioid cell tumor
Author(s) -
Argani Pedram,
Zhang Lei,
Sung YunShao,
White Marissa J.,
Miller Karin,
Hopkins Mark,
Small Donald,
Pratilas Christine A.,
Swanson David,
Dickson Brendan,
Antonescu Cristina R.
Publication year - 2020
Publication title -
genes, chromosomes and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.754
H-Index - 119
eISSN - 1098-2264
pISSN - 1045-2257
DOI - 10.1002/gcc.22801
Subject(s) - perivascular epithelioid cell , tfe3 , fusion gene , biology , fluorescence in situ hybridization , pathology , chromosomal translocation , gene , chromosome , medicine , genetics , epithelioid cell , gene expression , immunology , immunohistochemistry , promoter
We report an Xp11 translocation perivascular epithelioid cell tumor (PEComa) with a novel RBMX‐TFE3 gene fusion, resulting from a paracentric X chromosome inversion, inv(X)(p11;q26). The neoplasm occurred in an otherwise healthy 12‐year‐old boy who presented with a large left renal mass with extension into the inferior vena cava. The patient was found to have multiple pulmonary metastases at diagnosis and died of disease 3 months later. The morphology (epithelioid clear cells with alveolar and nested architecture) and immunophenotype (TFE3 and HMB45 strongly positive; actin, desmin, and PAX8 negative) was typical of an Xp11 translocation PEComa; however, TFE3 rearrangement was initially not detected by routine TFE3 break‐apart fluorescence in situ hybridization (FISH). Further RNA sequencing revealed a novel RBMX‐TFE3 gene fusion, which was subsequently confirmed by fusion assay FISH, using custom design RBMX and TFE3 come‐together probes. This report describes a novel TFE3 gene fusion partner, RBMX , in a pediatric renal PEComa patient associated with a fulminant clinical course. As documented in other intrachromosomal Xp11 . 2 inversions, such as fusions with NONO , RBM10 , or GRIPAP1 genes, the TFE3 break‐apart might be below the FISH resolution, resulting in a false negative result.