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Identification of an MLL4‐GPS2 fusion as an oncogenic driver of undifferentiated spindle cell sarcoma in a child
Author(s) -
O'Meara Elaine,
Stack Deirdre,
Phelan Susan,
McDonagh Naomi,
Kelly Lorna,
Sciot Raf,
DebiecRychter Maria,
Morris Thomas,
Cochrane Doug,
Sorensen Poul,
O'Sullivan Maureen J.
Publication year - 2014
Publication title -
genes, chromosomes and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.754
H-Index - 119
eISSN - 1098-2264
pISSN - 1045-2257
DOI - 10.1002/gcc.22208
Subject(s) - gene , biology , fusion gene , cancer research , fusion protein , immunohistochemistry , sarcoma , cell , chromosomal translocation , microbiology and biotechnology , genetics , medicine , pathology , immunology , recombinant dna
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 MLL4 and GPS2 genes, resulting in an in‐frame fusion gene MLL4‐GPS2 , the expression of which promotes anchorage‐independent growth. MLL4 was previously reported to be similarly rearranged in hepatocellular carcinomas, notably those positive for hepatitis B virus. Isolated reports of individual rearrangements of GPS2 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.