A novel RBMX-TFE3 gene fusion in a highly aggressive pediatric renal perivascular epithelioid cell tumor

Pedram Argani, Lei Zhang, Yun Shao Sung, Marissa J. White, Karin Miller, Mark Hopkins, Donald Small, Christine A. Pratilas, David Swanson, Brendan Dickson, Cristina R. Antonescu

Research output: Contribution to journalArticlepeer-review

9 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)58-63
Number of pages6
JournalGenes Chromosomes and Cancer
Issue number1
StatePublished - Jan 1 2020


  • TFE3
  • renal neoplasm
  • translocation

ASJC Scopus subject areas

  • Genetics
  • Cancer Research


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