| 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. |
| Source: |
ISSN:1045-2257 ; ISSN:1098-2264 ; Genes, Chromosomes & Cancer, vol. 53 (12), (991-8. |
| Publisher Information: |
Wiley-Liss, Inc. |
| Publication Year: |
2014 |
| Subject Terms: |
Science & Technology; Life Sciences & Biomedicine; Oncology; Genetics & Heredity; Health Research Board of Ireland (CSA; 13); National Children's Research Centre; HUMAN HEPATOCELLULAR-CARCINOMA; B-VIRUS DNA; H3K79 METHYLATION; GENE; LEUKEMIA; REARRANGEMENTS; APOPTOSIS; HOMOLOG; MLL2; Health Research Board of Ireland (CSA/2012/13); Adult; Aged; 80 and over; Animals; Brain Neoplasms; Child; Chromosomes; Human; Pair 17; Pair 19; Cohort Studies; DNA-Binding Proteins |
| Time: |
2012 |
| Description: |
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. ; sponsorship: Supported by the Health Research Board of Ireland Clinician Scientist Award (CSA/2012/13) granted to MJO'S. (Health Research Board of Ireland Clinician Scientist Award|CSA/2012/13, Health Research Board (HRB)|CSA-2012-13) ; status: Published |
| Document Type: |
article in journal/newspaper |
| Language: |
English |
| Relation: |
https://lirias.kuleuven.be/handle/123456789/460066; https://doi.org/10.1002/gcc.22208; https://pubmed.ncbi.nlm.nih.gov/25139254 |
| DOI: |
10.1002/gcc.22208 |
| Availability: |
https://lirias.kuleuven.be/handle/123456789/460066; https://doi.org/10.1002/gcc.22208; https://pubmed.ncbi.nlm.nih.gov/25139254 |
| Rights: |
info:eu-repo/semantics/restrictedAccess ; intranet |
| Accession Number: |
edsbas.185AF274 |
| Database: |
BASE |