Section for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway
Department of Pathology, the Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway.
Cancer Genomics Proteomics. 2019 Jul-Aug;16(4):293-298. doi: 10.21873/cgp.20134.
BACKGROUND/AIM: Pseudomyogenic hemangioendothelioma is a rare endothelial tumor. Previous genetic investigations have shown that the tumors carry either a SERPINE1-FOSB or an ACTB-FOSB fusion gene. The aim of the study was to identify FOSB fusions linked with pseudomyogenic hemangioendothelioma.
RNA sequencing, reverse transcription polymerase chain reaction (RT-PCR) and Sanger sequencing analyses were performed on a pseudomyogenic hemangioendothelioma.
An in-frame fusion was found between exon 4 of WWTR1 from 3q25 and exon 2 of FOSB from 19q13. The fusion gene not only places FOSB under the control of the WWTR1 promoter, but is predicted to encode a chimeric WWTR1-FOSB transcription factor.
FOSB may be fused with SERPINE1, ACTB, or WWTR1 in pseudomyogenic hemangioendotheliomas. The resulting overexpression of FOSB fusion is a potentially useful marker that could be helpful in the diagnosis of these tumors.
背景/目的：假肌源性血管内皮瘤是一种罕见的内皮细胞肿瘤。先前的遗传研究表明，肿瘤携带 SERPINE1-FOSB 或 ACTB-FOSB 融合基因。本研究旨在鉴定与假肌源性血管内皮瘤相关的 FOSB 融合。
对假肌源性血管内皮瘤进行 RNA 测序、逆转录聚合酶链反应（RT-PCR）和 Sanger 测序分析。
在 3q25 的 WWTR1 的外显子 4 和 19q13 的 FOSB 的外显子 2 之间发现了一个框内融合。融合基因不仅使 FOSB 受 WWTR1 启动子的控制，而且预测编码一个嵌合 WWTR1-FOSB 转录因子。
假肌源性血管内皮瘤中 FOSB 可能与 SERPINE1、ACTB 或 WWTR1 融合。FOSB 融合的过度表达是一个潜在有用的标志物，有助于这些肿瘤的诊断。
