A novel RBMX-TFE3 gene fusion in a highly aggressive pediatric renal perivascular epithelioid cell tumor
A novel RBMX-TFE3 gene fusion in a highly aggressive pediatric renal perivascular epithelioid cell tumor
复制标题
DOI：
10.1002/gcc.22801
复制
发表时间：
2019-09-02
影响因子：
3.7
通讯作者：
Antonescu, Cristina R.
中科院分区：
文献类型：
--
作者：
Argani, Pedram;Zhang, Lei;Antonescu, Cristina R.
我们报告了一例Xp 11易位血管周围上皮样细胞肿瘤（PEComa），该肿瘤具有一种新的RBMX-TFE 3基因融合，由X染色体旁着丝粒倒位inv（X）（p11;q26）引起。肿瘤发生在一个健康的12岁男孩谁提出了一个大的左肾肿块延伸到下腔静脉。诊断时发现患者有多处肺转移，3个月后死于疾病。形态学（上皮样透明细胞与肺泡和巢状结构）和免疫表型（TFE 3和HMB 45强阳性;肌动蛋白，结蛋白和PAX 8阴性）是典型的Xp 11易位PEComa;然而，TFE 3重排最初未检测到常规TFE 3断裂荧光原位杂交（FISH）。进一步的RNA测序揭示了一种新的RBMX-TFE 3基因融合，随后通过融合测定FISH，使用定制设计的RBMX和TFE 3结合在一起的探针证实了这一点。本报告描述了一种新的TFE 3基因融合伴侣，RBMX，在小儿肾PEComa患者与暴发性的临床过程。正如在其他染色体内Xp11.2倒位中所记录的，例如与NONO、RBM 10或GRIPAP 1基因的融合，TFE 3断裂可能低于FISH分辨率，导致假阴性结果。
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.