JAK2V617F allele burden: innovative concept in monitoring of myeloproliferative neoplasms
- 13 Downloads
Philadelphia chromosome-negative myeloproliferative neoplasms (MPNs), including polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF), are characterized by mutations in genes, such as JAK2V617F, JAK2 exon12 gene and MPL. With respect to MPN-associated subclasses, each of these disorders has a different allele burden during disease treatment. Up to now, several studies have been conducted on the relationship between allele burden with specific MPN-associated phenotypic features, prognosis and disease progression. It seems that finding such a correlation would be a great contribution to faster diagnosis and effective treatment. The goal of this review is to investigate the relationship between JAK2V617 allele burden with different MPN subtypes and their different phenotypes. Allele burden is closely associated with MPN phenotype and can partially indicate the prognosis, progression and even the likelihood of disease transformation.
KeywordsAllele burden JAK2 Myeloproliferative disorders
This study is part of M.Sc thesis for Soheila Bagherpour. Special thanks to Ahvaz Jundishapur University of Medical Sciences for the financial support.
Compliance with ethical guidelines
Conflict of interest
S. Bagheropur, A. Ehsanpour, M.T. Birgani, and N. Saki declare that they have no competing interests.
This article does not contain any studies with human participants or animals performed by any of the authors.
- 14.Passamonti F, Rumi E, Pietra D, Della Porta MG, Boveri E, Pascutto C, et al. Relation between JAK2 (V617F) mutation status, granulocyte activation, and constitutive mobilization of CD34+ cells into peripheral blood in myeloproliferative disorders. Blood. 2006;107(9):3676–82.CrossRefPubMedGoogle Scholar
- 17.Ferdowsi S, Atarodi K, Amirizadeh N, Toogeh G, Azarkeivan A, Shirkoohi R, et al. Expression analysis of microRNA-125 in patients with polycythemia vera and essential thrombocythemia and correlation with JAK2 allele burden and laboratory findings. Int J Lab Hematol. 2015;37(5):661–7.CrossRefPubMedGoogle Scholar
- 18.Arellano-Rodrigo E, Alvarez-Larrán A, Reverter JC, Villamor N, Colomer D, Cervantes F. Increased platelet and leukocyte activation as contributing mechanisms for thrombosis in essential thrombocythemia and correlation with the JAK2 mutational status. Haematologica. 2006;91(2):169–75.PubMedGoogle Scholar
- 29.Lange T, Edelmann A, Siebolts U, Krahl R, Nehring C, Jakel N, et al. JAK2 p.V617F allele burden in myeloproliferative neoplasms one month after allogeneic stem cell transplantation significantly predicts outcome and risk of relapse. Haematologica. 2013;98(5):722–8.CrossRefPubMedPubMedCentralGoogle Scholar
- 32.Guglielmelli P, Barosi G, Pieri L, Antonioli E, Bosi A, Vannucchi AM. JAK2V617F mutational status and allele burden have little influence on clinical phenotype and prognosis in patients with post-polycythemia vera and post-essential thrombocythemia myelofibrosis. Haematologica. 2009;94(1):144–6.CrossRefPubMedGoogle Scholar
- 40.Yonal I, Pinarbası B, Hindilerden F, Hancer VS, Nalcaci M, Kaymakoglu S, et al. The clinical significance of JAK2V617F mutation for Philadelphia-negative chronic myeloproliferative neoplasms in patients with splanchnic vein thrombosis. J Thromb Thrombolysis. 2012;34(3):388–96.CrossRefPubMedGoogle Scholar
- 45.Passamonti F, Rumi E, Pietra D, Elena C, Boveri E, Arcaini L, et al. A prospective study of 338 patients with polycythemia vera: the impact of JAK2 (V617F) allele burden and leukocytosis on fibrotic or leukemic disease transformation and vascular complications. Leukemia. 2010;24(9):1574–9.CrossRefPubMedGoogle Scholar
- 47.Vannucchi AM, Antonioli E, Pancrazzi A, Guglielmelli P, Di Lollo S, Alterini R, et al. The clinical phenotype of patients with essential thrombocythemia harboring MPL 515W>L/K mutation. Blood. 2007;110(11):678.Google Scholar
- 55.Iacobucci I, Lonetti A, Venturi C, Ferrari A, Papayannidis C, Ottaviani E, et al. Use of a high sensitive nanofluidic array for the detection of rare copies of BCR-ABL1 transcript in patients with Philadelphia-positive acute lymphoblastic leukemia in complete response. Leuk Res. 2014;38(5):581–5.CrossRefPubMedGoogle Scholar