A novel RBMX-TFE3 gene fusion in a highly aggressive pediatric renal perivascular epithelioid cell tumor Journal Article
| Authors: | Argani, P.; Zhang, L.; Sung, Y. S.; White, M. J.; Miller, K.; Hopkins, M.; Small, D.; Pratilas, C. A.; Swanson, D.; Dickson, B.; Antonescu, C. R. |
| Article Title: | A novel RBMX-TFE3 gene fusion in a highly aggressive pediatric renal perivascular epithelioid cell tumor |
| Abstract: | 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. © 2019 Wiley Periodicals, Inc. |
| Keywords: | immunohistochemistry; child; clinical article; school child; human cell; case report; gene; lung metastasis; fluorescence in situ hybridization; gene rearrangement; kidney tumor; gene fusion; chromosome translocation; rna sequence; tfe3 gene; translocation; tfe3; perivascular epithelioid cell tumor; human; male; priority journal; article; renal neoplasm; rbmx gene; renal perivascular epithelioid cell tumor |
| Journal Title: | Genes Chromosomes and Cancer |
| Volume: | 59 |
| Issue: | 1 |
| ISSN: | 1045-2257 |
| Publisher: | Wiley Periodicals, Inc |
| Date Published: | 2020-01-01 |
| Start Page: | 58 |
| End Page: | 63 |
| Language: | English |
| DOI: | 10.1002/gcc.22801 |
| PUBMED: | 31408245 |
| PROVIDER: | scopus |
| PMCID: | PMC7057291 |
| DOI/URL: | |
| Notes: | Article -- Export Date: 2 December 2019 -- Source: Scopus |
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