IJMS, Vol. 19, Pages 1152: The JAK2 GGCC (46/1) Haplotype in Myeloproliferative Neoplasms: Causal or Random?

IJMS, Vol. 19, Pages 1152: The JAK2 GGCC (46/1) Haplotype in Myeloproliferative Neoplasms: Causal or Random?

International Journal of Molecular Sciences doi: 10.3390/ijms19041152

Authors: Luisa Anelli Antonella Zagaria Giorgina Specchia Francesco Albano

The germline JAK2 haplotype known as "GGCC or 46/1 haplotype" (haplotypeGGCC_46/1) consists of a combination of single nucleotide polymorphisms (SNPs) mapping in a region of about 250 kb, extending from the JAK2 intron 10 to the Insulin-like 4 (INLS4) gene. Four main SNPs (rs3780367, rs10974944, rs12343867, and rs1159782) generating a "GGCC" combination are more frequently indicated to represent the JAK2 haplotype. These SNPs are inherited together and are frequently associated with the onset of myeloproliferative neoplasms (MPN) positive for both JAK2 V617 and exon 12 mutations. The association between the JAK2 haplotypeGGCC_46/1 and mutations in other genes, such as thrombopoietin receptor (MPL) and calreticulin (CALR), or the association with triple negative MPN, is still controversial. This review provides an overview of the frequency and the role of the JAK2 haplotypeGGCC_46/1 in the pathogenesis of different myeloid neoplasms and describes the hypothetical mechanisms at the basis of the association with JAK2 gene mutations. Moreover, possible clinical implications are discussed, as different papers reported contrasting data about the correlation between the JAK2 haplotypeGGCC_46/1 and blood cell count, survival, or disease progression.

from #MedicinebyAlexandrosSfakianakis via xlomafota13 on Inoreader https://ift.tt/2GSeqAM
via IFTTT