Condition: Primary Myelofibrosis
rs77375493 in
INSL6;JAK2 gene and
Primary Myelofibrosis
PMID 16293597 2006 V617F mutation in JAK2 is associated with poorer survival in idiopathic myelofibrosis.
PMID 24986690 2014 Of the 617 subjects studied, 399 (64.7%) carried JAK2 (V617F), 140 (22.7%) had a CALR exon 9 indel, 25 (4.0%) carried an MPL (W515) mutation, and 53 (8.6%) had nonmutated JAK2, CALR, and MPL (so-called triple-negative PMF).
PMID 25157968 2014 Prospective enterprise-level molecular genotyping of a cohort of cancer patients.
rs121913614 in
MPL gene and
Primary Myelofibrosis
PMID 20151976 2010 Clinical utility of routine MPL exon 10 analysis in the diagnosis of essential thrombocythaemia and primary myelofibrosis.
PMID 18528423 2008 New mutations of MPL in primitive myelofibrosis: only the MPL W515 mutations promote a G1/S-phase transition.