作者
Charles Walther, Johnbosco Tayebwa, Henrik Lilljebjörn, Linda Magnusson, Jenny Nilsson, Fredrik Vult Von Steyern, Ingrid Øra, Henryk A Domanski, Thoas Fioretos, Karolin H Nord, Christopher DM Fletcher, Fredrik Mertens
发表日期
2014/4
期刊
The Journal of Pathology
卷号
232
期号
5
页码范围
534-540
出版商
John Wiley & Sons, Ltd
简介
Pseudomyogenic haemangioendothelioma (PHE) is an intermediate malignant vascular soft tissue tumour primarily affecting children and young adults. The molecular basis of this neoplasm is unknown. We here used chromosome banding analysis, fluorescence in situ hybridization (FISH), mRNA sequencing, RT–PCR and quantitative real‐time PCR on a series of morphologically well‐characterized PHEs to show that a balanced translocation, t(7;19)(q22;q13), detected as the sole cytogenetic aberration in two cases, results in fusion of the SERPINE1 and FOSB genes. This translocation has not been observed in any other bone or soft tissue tumour. Interphase FISH on sections from eight additional PHEs identified the same SERPINE1–FOSB fusion in all cases. The role of SERPINE1, which is highly expressed in vascular cells, in this gene fusion is probably to provide a strong promoter for FOSB, which was …
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