Author:
Paes Jhemerson F.,Torres Dania G.,Aquino Deborah C.,Alves Emanuela V. B.,Mesquita Erycka A.,Sousa Miliane A.,Fraiji Nelson Abrahim,Passos Leny N. M.,Abreu Rosângela S.,Silva George A. V.,Tarragô Andréa M.,de Souza Mourão Lucivana P.
Abstract
AbstractBCR::ABL1-negative myeloproliferative neoplasms are hematopoietic disorders characterized by panmyelosis. JAK2 V617F is a frequent variant in these diseases and often occurs in the 46/1 haplotype. The G allele of rs10974944 has been shown to be associated with this variant, specifically its acquisition, correlations with familial cases, and laboratory alterations. This study evaluated the association between the 46/1 haplotype and JAK2 V617F in patients with myeloproliferative neoplasms in a population from the Brazilian Amazon. Clinical, laboratory and molecular sequencing analyses were considered. Carriers of the G allele of rs10974944 with polycythemia vera showed an increase in mean corpuscular volume and mean corpuscular hemoglobin, while in those with essential thrombocythemia, there was an elevation in red blood cells, hematocrit, and hemoglobin. Associations were observed between rs10974944 and the JAK2 V617F, in which the G allele (OR 3.4; p < 0.0001) and GG genotype (OR 4.9; p = 0.0016) were associated with JAK2 V617F + and an increase in variant allele frequency (GG: OR 15.8; p = < 0.0001; G: OR 6.0; p = 0.0002). These results suggest an association between rs10974944 (G) and a status for JAK2 V617F, JAK2 V617F + _VAF ≥ 50%, and laboratory alterations in the erythroid lineage.
Funder
Fundação de Amparo à Pesquisa do Estado do Amazonas , Brasil
Coordenação de Aperfeiçoamento de Pessoal de Nível Superior
Publisher
Springer Science and Business Media LLC
Reference52 articles.
1. Grinfeld, J. et al. Classification and personalized prognosis in myeloproliferative neoplasms. N. Engl. J. Med. 379(15), 1416–1430. https://doi.org/10.1056/nejmoa1716614 (2018).
2. Swerdlow, S.H. et al. World Health Organization Classification of Tumours This Book and all Other Volumes of the Series Can be Purchased : From all Countries. World Health Organization. (4th ed). (2017).
3. Khoury, J. D. et al. The 5th the World Health Organization classification of haematolymphoid tumours: Myeloid and histiocytic/dendritic neoplasms. Leukemia https://doi.org/10.1038/s41375-022-01613-1 (2022).
4. Gou, P., Zhang, W. & Giraudier, S. Insights into the potential mechanisms of JAK2V617F somatic mutation contributing distinct phenotypes in myeloproliferative neoplasms. Int. J. Mol. Sci. https://doi.org/10.3390/ijms23031013 (2022).
5. Torres, D. G. et al. JAK2 variant signaling: Genetic, hematologic and immune implication in chronic myeloproliferative neoplasms. Biomolecules 12(2), 1–18. https://doi.org/10.3390/biom12020291 (2022).