Identification of an MLL4‐GPS2 fusion as an oncogenic driver of undifferentiated spindle cell sarcoma in a child. Issue 12 (19th August 2014)

• Record Type: Journal Article
• Authors: O'Meara, Elaine; Stack, Deirdre; Phelan, Susan; McDonagh, Naomi; Kelly, Lorna; Sciot, Raf; Debiec‐Rychter, Maria; Morris, Thomas; Cochrane, Doug; Sorensen, Poul; O'Sullivan, Maureen J.
• Is Part Of: Genes, chromosomes & cancer. Volume 53:Issue 12(2014:Dec.)
• Page Start: 991
• Page End: 998
• Publication Date: 2014-08-19
• Subjects: Cancer -- Genetic aspects -- Periodicals; 616.994042
• DOI: 10.1002/gcc.22208
• Languages: English
• ISSNs: 1045-2257

Abstract

<abstract abstract-type="main"> <title> <x xml:space="preserve">Abstract</x> </title> <p>Undifferentiated spindle cell sarcoma (UDS) is a poorly defined or understood entity, essentially a waste‐basket for cases failing to fulfill criteria for better‐established diagnoses based on combined histology, immunohistochemistry, and tumor genetic assays. We identified a novel chromosomal translocation t(17;19)(p13;q13) in a pediatric UDS and have characterized this alteration to show rearrangement of the <italic>MLL4</italic> and <italic>GPS2</italic> genes, resulting in an in‐frame fusion gene <italic>MLL4‐GPS2</italic>, the expression of which promotes anchorage‐independent growth. <italic>MLL4</italic> was previously reported to be similarly rearranged in hepatocellular carcinomas, notably those positive for hepatitis B virus. Isolated reports of individual rearrangements of <italic>GPS2</italic> in a prostate carcinoma cell line and in glioblastoma multiforme, each with different partner genes, recently emerged from high‐throughput sequencing studies but have not been further evaluated for biological effect. © 2014 Wiley Periodicals, Inc.</p> </abstract>