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

Abstract

References

The JAK2 46/1 haplotype in Budd-Chiari syndrome and portal vein thrombosis

“…Although we are aware that this group of patients is small, this finding is consistent with the increasing evidence that 46/1 is associated with both JAK2 V617F -positive and JAK2 V617F -negative MPNs. [15][16][17] An obvious question is whether 46/1 is of additional value in the diagnostic work-up of SVT patients. Our study suggests that 46/1 may be used as a diagnostic tool in the risk assessment of MPNs in SVT patients in addition to the JAK2 V617F mutation.…”

“…One of the aforementioned studies also found an association between 46/1 and JAK2 V617F -negative MPNs, 12 which has since been confirmed by other studies. [15][16][17] Subsequently, it has been shown that 46/1 was also overrepresented in JAK2 V617F -negative MPNs carrying mutations across JAK2 exon 12 or the MPL gene. 18,19 These findings are of particular interest in SVT, because 46/1 may thus represent a new molecular marker for diagnosing MPNs in JAK2 V617F -negative SVT patients.…”

Co-occurrence of Myeloproliferative Neoplasms and Solid Tumors Is Attributed to a Synergism Between Cytoreductive Therapy and the Common TERT Polymorphism rs2736100

“…The risk alleles of TERT rs2736100_C and JAK2 rs12343867_C were identified by melting curve analysis with the hybridization probe detection format on LightCycler 480II, (Roche Diagnostics). As JAK2 rs12343867_C tags 46/1 haplotype, its allele frequency is presented as JAK2 46/1 haplotype frequency (11). In case of TERT rs2736100_C, amplification primers (named as LCF, LCR) and hybridization probes (named as ANC, SENS) designed using LightCycler Probe Design software (Roche Diagnostics) were the following: TERT-LCF: 5 0 -GCT AAG CAT TAT TAA TAT TGT TTT CCG T-3 0 ; TERT-LCR: 5 0 -GCA ATA ACA AGA CAG AAG AAC C-3 0 ; TERT-SENS 5 0 -Cy5-GGC AAA GCT ACA GAA AC-Phosphate-3 0 -; TERT-ANC: 5 0 -AAG GAG GAA AAG CAG GGC G-Fluorescein-3 0 .…”

The JAK2 46/1 haplotype: a marker of inappropriate myelomonocytic response to cytokine stimulation, leading to increased risk of inflammation, myeloid neoplasm, and impaired defense against infection?

“…Last year Andrikovics et al reported that patients with acute myeloid leukemia (AML) with the 46/1 haplotype had a higher frequency of normal karyotype (NK). 9 In the present issue of Haematologica, the same group found that the JAK2 46/1 haplotype is associated with an increased frequency of acute myelomonocytic leukemia and a tendency to reduced survival because of death from infection in patients with NK-AML. 10 The latter findings need confirmation by other studies, for it is of great interest to establish whether the JAK2 46/1 haplotype is in fact a marker of myelomonocytic dysfunction and subsequently an unfavorable risk factor in NK-AML, as Nahajevszky et al suggest, and/or in other disease categories.…”