Title: Identification of an MLL4-GPS2 fusion as an oncogenic driver of undifferentiated spindle cell sarcoma in a child
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 #
Issue Date: Dec-2014
Publisher: Wiley-Liss, Inc.
Series Title: Genes, Chromosomes & Cancer vol:53 issue:12 pages:991-8
Article number: 10.1002/gcc.22208
Abstract: 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.
ISSN: 1045-2257
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
Translational Cell & Tissue Research
Laboratory for Genetics of Malignant Disorders
× corresponding author
# (joint) last author

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