Somatic CALR mutations in myeloproliferative neoplasms with nonmutated JAK2.

ABSTRACT:

Background

Somatic mutations in the Janus kinase 2 gene (JAK2) occur in many myeloproliferative neoplasms, but the molecular pathogenesis of myeloproliferative neoplasms with nonmutated JAK2 is obscure, and the diagnosis of these neoplasms remains a challenge.

Methods

We performed exome sequencing of samples obtained from 151 patients with myeloproliferative neoplasms. The mutation status of the gene encoding calreticulin (CALR) was assessed in an additional 1345 hematologic cancers, 1517 other cancers, and 550 controls. We established phylogenetic trees using hematopoietic colonies. We assessed calreticulin subcellular localization using immunofluorescence and flow cytometry.

Results

Exome sequencing identified 1498 mutations in 151 patients, with medians of 6.5, 6.5

SUBMITTER: Nangalia J 

PROVIDER: S-EPMC3966280 | biostudies-literature | 2013 Dec

REPOSITORIES: biostudies-literature