The genomic analysis brings a new piece to the molecular jigsaw of idiopathic erythrocytosis

Arber DA, Orazi A, Hasserjian R, Thiele J, Borowitz MJ, le Beau MM, et al. The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia. Blood. 2016;127:2391–405.

CAS  Article  Google Scholar 

Storlazzi CT, Albano F, Locunsolo C, Lonoce A, Funes S, Guastadisegni MC, et al. t(3;12)(q26;q14) in polycythemia vera is associated with upregulation of the HMGA2 gene. Leukemia. 2006;20:2190–2.

CAS  Article  Google Scholar 

Gašperšič J, Kristan A, Kunej T, Zupan IP, Debeljak N. Erythrocytosis: genes and pathways involved in disease development. Blood Transfus. 2021;19:518–32.

PubMed  PubMed Central  Google Scholar 

Olcaydu D, Harutyunyan A, Jäger R, Berg T, Gisslinger B, Pabinger I, et al. A common JAK2 haplotype confers susceptibility to myeloproliferative neoplasms. Nat Genet. 2009;41:450–4.

CAS  Article  Google Scholar 

Anelli L, Orsini P, Zagaria A, Minervini A, Coccaro N, Parciante E, et al. Erythrocytosis with JAK2 GGCC_46/1 haplotype and without JAK2 V617F mutation is associated with CALR rs1049481_G allele. Leukemia. 2020;35:619–22.

Article  Google Scholar 

González JR, Armengol L, Solé X, Guinó E, Mercader JM, Estivill X, et al. SNPassoc: an R package to perform whole genome association studies. Bioinformatics. 2007;23:644–5.

PubMed  Google Scholar 

Cumbo C, Tarantini F, Zagaria A, Anelli L, Minervini CF, Coccaro N, et al. Clonal hematopoiesis at the crossroads of inflammatory bowel diseases and hematological malignancies: a biological link? Front Oncol. 2022;12:873896.

Article  Google Scholar 

Bento C. Genetic basis of congenital erythrocytosis. Int J Lab Hematol. 2018;40:62–7. https://doi.org/10.1111/ijlh.12828.

Article  PubMed  Google Scholar 

Camps C, Petousi N, Bento C, Cario H, Copley RR, McMullin MF, et al. Gene panel sequencing improves the diagnostic work-up of patients with idiopathic erythrocytosis and identifies new mutations. Haematologica. 2016;101:1306–18.

CAS  Article  Google Scholar 

Wouters HJCM, Mulder R, van Zeventer IA, Schuringa JJ, van der Klauw MM, van der Harst P, et al. Erythrocytosis in the general population: clinical characteristics and association with clonal hematopoiesis. Blood Adv. 2020;4:6353–63.

CAS  Article  Google Scholar 

Jaiswal S, Fontanillas P, Flannick J, Manning A, Grauman PV, Mar BG, et al. Age-related clonal hematopoiesis associated with adverse outcomes ABSTRACT. N Engl J Med. 2014;26:2488–98.

Article  Google Scholar 

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