TY - JOUR
T1 - A novel RBMX-TFE3 gene fusion in a highly aggressive pediatric renal perivascular epithelioid cell tumor
AU - Argani, Pedram
AU - Zhang, Lei
AU - Sung, Yun Shao
AU - White, Marissa J.
AU - Miller, Karin
AU - Hopkins, Mark
AU - Small, Donald
AU - Pratilas, Christine A.
AU - Swanson, David
AU - Dickson, Brendan
AU - Antonescu, Cristina R.
N1 - Funding Information:
information NIH Clinical Center, Grant/Award Numbers: P30 CA008748, P50 CA21694; Dahan Translocation Carcinoma Fund; Joey Wings; Kristin Ann Carr Foundation; Cycle for Survival We thank Norman Barker MA, MS, RBP, for expert photographic assistance. Supported in part by: NIH Clinical Center (P50 CA217694 [C.R.A.] and P30 CA008748), Cycle for Survival (C.R.A.), Kristin Ann Carr Foundation (C.R.A.), Joey Wings (P.A.), and Dahan Translocation Carcinoma Fund (P.A.).
Publisher Copyright:
© 2019 Wiley Periodicals, Inc.
PY - 2020/1/1
Y1 - 2020/1/1
N2 - 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.
AB - 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.
KW - TFE3
KW - renal neoplasm
KW - translocation
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U2 - 10.1002/gcc.22801
DO - 10.1002/gcc.22801
M3 - Article
C2 - 31408245
AN - SCOPUS:85071846594
VL - 59
SP - 58
EP - 63
JO - Genes Chromosomes and Cancer
JF - Genes Chromosomes and Cancer
SN - 1045-2257
IS - 1
ER -