Version 1
: Received: 31 July 2024 / Approved: 1 August 2024 / Online: 1 August 2024 (11:04:23 CEST)
How to cite:
Perrone, M.; Sergio, S.; Tarantino, A.; Loglisci, G.; Matera, R.; Seripa, D.; Maffia, M.; Di Renzo, N. Association of JAK2 Haplotype GGCC_46/1 with the Response to Onco-Drug in MPNs Patients Positive for JAK2V617F Mutation. Preprints2024, 2024080006. https://doi.org/10.20944/preprints202408.0006.v1
Perrone, M.; Sergio, S.; Tarantino, A.; Loglisci, G.; Matera, R.; Seripa, D.; Maffia, M.; Di Renzo, N. Association of JAK2 Haplotype GGCC_46/1 with the Response to Onco-Drug in MPNs Patients Positive for JAK2V617F Mutation. Preprints 2024, 2024080006. https://doi.org/10.20944/preprints202408.0006.v1
Perrone, M.; Sergio, S.; Tarantino, A.; Loglisci, G.; Matera, R.; Seripa, D.; Maffia, M.; Di Renzo, N. Association of JAK2 Haplotype GGCC_46/1 with the Response to Onco-Drug in MPNs Patients Positive for JAK2V617F Mutation. Preprints2024, 2024080006. https://doi.org/10.20944/preprints202408.0006.v1
APA Style
Perrone, M., Sergio, S., Tarantino, A., Loglisci, G., Matera, R., Seripa, D., Maffia, M., & Di Renzo, N. (2024). Association of JAK2 Haplotype GGCC_46/1 with the Response to Onco-Drug in MPNs Patients Positive for JAK2V617F Mutation. Preprints. https://doi.org/10.20944/preprints202408.0006.v1
Chicago/Turabian Style
Perrone, M., Michele Maffia and Nicola Di Renzo. 2024 "Association of JAK2 Haplotype GGCC_46/1 with the Response to Onco-Drug in MPNs Patients Positive for JAK2V617F Mutation" Preprints. https://doi.org/10.20944/preprints202408.0006.v1
Abstract
JAK2 V617F is a somatic mutation associated with myeloproliferative neoplasm (MPN): polycythemia vera (PV), essential thrombocythemia (ET) and primary myelofibrosis (PMF). In MPNs this mutation is associated with the germline GGCC (46/1) haplotype. Most studies consider the association of the JAK2 haplotypeGGCC_46/1 with some MPNs clinical parameters but no one analyzed the association between JAK2 haplotypeGGCC_46/1 and the onset of onco-drug resistance. Thus, we assessed for JAK2 46/1 haplotype correlation with therapy response in JAK2 V617F positive patients. Patients with MPN, selected by the Hematology Laboratory of “V. Fazzi” Hospital (LE), were analyzed with RLFP-PCR assay with rs10974944 SNP. Most of them had PV (63%) or PMF (61%). Among patients that developed onco-drug resistance, 58% had C/G genotype and only 11% had the G/G allele. No correlation between onco-drug resistance and JAK2 haplotype 46/1 variants emerged. Nevertheless, we observed that G/G allele seems to be related to MPNs evolution to myelofibrosis and to the development of onco-drug resistance clinical parameters (p-value= 0.002449; odd ratio of 3.701209). Thus, although other analyses are required, due to the narrow cardinality of sample, our findings suggest how the G/G allele could be useful for MPNs diagnosis and for the prediction of the disease outcome.
Keywords
JAK V617F mutation; JAK2 haplotype GGCC_46/1; Myeloproliferative neoplasm
Subject
Biology and Life Sciences, Life Sciences
Copyright:
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
