Study

Integrative genomic and transcriptomic analysis of adult leiomyosarcoma (HIPO-028, HIPO-018, HIPO-021)

Study ID Alternative Stable ID Type
EGAS00001002437 Other

Study Description

Leiomyosarcoma (LMS) is an aggressive mesenchmyal malignancy with few therapeutic options. The mechanisms underlying LMS development, including clinically actionable genetic vulnerabilities, are largely unknown. We performed genomic and transcriptomic profiling of a large cohort of LMS tumors and identified substantial mutational heterogeneity, near-universal inactivation of TP53 and RB1, widespread DNA copy number alterations, chromothripsis, and frequent whole-genome duplication. Furthermore, we discovered recurrent alterations in telomere maintenance genes such as ATRX, RBL2, and RPA1, resulting in alternative lengthening of telomeres in 78% of cases. Finally, most tumors displayed hallmarks of “BRCAness”, including alterations in various homologous recombination DNA repair genes, multiple structural rearrangements, and enrichment of specific mutational signatures, and cultured LMS cells were sensitive towards olaparib and cisplatin treatment. This first comprehensive study of genetic alterations in LMS has uncovered key biological features that may inform future experimental ... (Show More)

Study Datasets 3 datasets.

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID Description Technology Samples
EGAD00001003827
The data set contains bam files aligned using bwa-0.7.8 mem -t 8 -R.
HiSeq X Ten 4
EGAD00001003828
This dataset contains paired fastq files for LMS tumor samples
Illumina HiSeq 2000,Illumina HiSeq 2500 37
EGAD00001003829
The data set contains paired end fastq files for whole exome sequencing data for Leiomyosarcoma tumor and control samples
Illumina HiSeq 2000,Illumina HiSeq 2500 96

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Publications

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