MPL mutation effect on JAK2 46/1 haplotype frequency in JAK2V617F-negative myeloproliferative neoplasms

JAK2 46/1 haplotype analysis in myeloproliferative neoplasms and acute myeloid leukemia

“…The role of 46/1 haplotype as a predisposition factor for V617F-negative MPN has initially been debated. [1][2][3] Although in our cohort, the haplotype frequency did not differ between V617F-negative MPN (ET and PMF) and local [4][5][6][7][8] As 46/1 haplotype predisposes for the acquisition of JAK2 V617F mutation, it may influence MPN signs and symptoms. Similarly to recent studies, 4-8 we also did not find differences in age, sex and relevant prognostic clinical parameters (hemoglobin, blood cell counts), occurrence of vascular complications (venous and arterial thrombosis, hemorrhage) or leukemic transformation according to 46/1 genotypes in PV, ET and PMF ( Table 2).…”

“…Two recent reports attempted to show associations between the presence of the 46/1 haplotype and further genetic alterations having a role in leukemogenesis located on other chromosome by focusing on MPL mutations in patients with ET. Patnaik et al 7 did not find an increased 46/1 allele frequency in V617F-negative, MPL mutation-positive ET patients (n ¼ 22). Neither could Jones et al 8 demonstrate a significantly increased 46/1 allele frequency in a similar patient group (n ¼ 32, P ¼ 0.06).…”

“…[2][3][4] Because of its distinctive biological, clinical and prognostic features 5,6 'AML with mutated NPM1' has been included as a provisional entity in the 2008 WHO classification of tumors of hematopoietic and lymphoid tissues. 7 Of importance, AML with NPM1 mutations but without FLT3-ITD seem to benefit from a new upfront therapy concept including all-trans retinoic acid evaluated for elderly patients 8 and recently under investigation in AML patients under the age of 60.…”

JAK2 GGCC haplotype in MPL mutated myeloproliferative neoplasms

“…This association was not confirmed in a study conducted on patients recruited from the Mayo Clinic database [10].…”

Frequency and clinical correlates of JAK2 46/1 (GGCC) haplotype in primary myelofibrosis

“…However, in another recent study, no such association with MPL mutations was described. 15 The aim of this study was to evaluate the association of JAK2 46/1 haplotype with JAK2V617F mutational status, clinical characteristics and prognosis in a series of patients with PMF. We obtained permission from the local institutional review board of the two institutions where the patients were referred to.…”