Study

Recurrent Somatic Mutations of PTPN1 in Primary Mediastinal B cell lymphoma and Hodgkin Lymphoma

Study ID Alternative Stable ID Type
EGAS00001000554 Other

Study Description

Hodgkin lymphoma (HL) and primary mediastinal B cell lymphoma (PMBCL) are related lymphomas sharing pathological, molecular and clinical characteristics. Here, we discovered recurrent somatic coding sequence mutations of the tyrosine phosphatase gene PTPN1 in the tumor genomes and transcriptomes of these B cell lymphomas (6 of 30 or in 20% of HL cases and 13 of 49 or in 27% of PMBCL cases), consisting of nonsense, missense and frameshift mutations. We demonstrate that PTPN1 mutations lead to reduced phosphatase activity and increased phosphorylation of JAK-STAT pathway members. Moreover, silencing of PTPN1 by RNA interference in HL cell line KM-H2 resulted in hyperphosphorylation and overexpression of downstream oncogenic targets. Our data establish PTPN1 mutations as novel drivers in B cell lymphomagenesis.

Study Datasets 2 datasets.

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Dataset ID Description Technology Samples
EGAD00001000692
Files associated with the dataset: HS1626.bam, HS1484.bam, HS1483.bam, HS1482.bam, HS1481.bam, HS1480.bam, HS1479.bam, HS1478.bam, A13805.bam, A13800.bam, A13799.bam, A05253.bam, A05252.bam, A13806.bam
Illumina Genome Analyzer,Illumina Genome Analyzer II,Illumina HiSeq 2000 12
EGAD00001001646
Fastq files corresponding to RNA-Seq dataset for PTPN1 project (EGAS00001000554)
Illumina Genome Analyzer,Illumina Genome Analyzer II,Illumina HiSeq 2000 10

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