JAK2 GGCC haplotype in MPL mutated myeloproliferative neoplasms

American Journal of Hematology
Daniela PietraElisa Rumi

Abstract

JAK2 (V617F) is associated with a genetic predisposition to its acquisition,as it is preferentially found in subjects with a common constitutional JAK2 haplotype known as 46/1 or GGCC. A recent study suggests that a genetic predisposition to acquisition of MPL mutation may exist in sporadic patients, since an association was found with the JAK2 46/1 haplotype. We genotyped 509 patients with myeloproliferative neoplasms (MPN), 7% of which carrying a somatic mutation of MPL Exon 10. We found that the JAK2 GGCC haplotype was closely associated with JAK2 (V617F) (OR 1.84, P < 0.001) but not with MPL mutations (OR 0.98), suggesting a different genetic background for these molecular lesions.

Citations

Sep 18, 2016·Proceedings of the National Academy of Sciences of the United States of America·Avrum SpiraScott M Lippman
Aug 9, 2013·Therapeutic Advances in Hematology·Amy V Jones, Nicholas C P Cross

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