Genomic landscape of malignant peripheral nerve sheath tumor (MPNST)

Study ID Alternative Stable ID Type
EGAS00001006069 Other

Study Description

Neurofibromatosis type 1 (NF1) is the most common tumor predisposition syndrome, and is associated with an aggressive soft-tissue sarcoma, malignant peripheral nerve sheath tumours (MPNSTs), the greatest cause of morbidity and mortality in people with NF1. The only potentially curative therapy involves surgery which is not always possible. Even therapy with curative intent is associated with poor overall survival for both sporadic and NF1-related MPNSTs. The development of novel therapies has been largely hindered by a lack of understanding of the molecular events underpinning MPNST pathogenesis. This is a comprehensive multi-omic study of MPNST evolution based on whole genome sequencing and transcriptomic data.

Study Datasets 2 datasets.

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Dataset ID Description Technology Samples
The Genomics of MPNST (GeM) Consortium dataset includes de-identified whole genome sequencing data (.bam) for germline samples (DNA primarily derived from blood) sequenced at standard (30x) coverage (n=88) and for tumor samples (DNA derived from fresh frozen tissue) sequenced at 90x coverage (n=105). This dataset also includes transcriptome profiling data (.fastq) for paired normal nerve samples (n=7) and for tumor samples (n=132).
Illumina HiSeq 4000,Illumina NovaSeq 6000 332
Methylation data on tumor (n=102) and normal nerve (n=7) DNA samples
Infinium HumanMethylationEPIC beadchip array 109

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