Skip to main content
Erschienen in: memo - Magazine of European Medical Oncology 2/2018

22.03.2018 | review

JAK2V617F allele burden: innovative concept in monitoring of myeloproliferative neoplasms

verfasst von: Soheila Bagheropur, Ali Ehsanpour, Maryam Tahmasebi Birgani, Najmaldin Saki

Erschienen in: memo - Magazine of European Medical Oncology | Ausgabe 2/2018

Einloggen, um Zugang zu erhalten

Summary

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.
Literatur
1.
Zurück zum Zitat Takahashi K, Patel KP, Kantarjian H, Luthra R, Pierce S, Cortes J, et al. JAK2 p. V617F detection and allele burden measurement in peripheral blood and bone marrow aspirates in patients with myeloproliferative neoplasms. Blood. 2013;122(23):3784–6.CrossRefPubMedPubMedCentral Takahashi K, Patel KP, Kantarjian H, Luthra R, Pierce S, Cortes J, et al. JAK2 p. V617F detection and allele burden measurement in peripheral blood and bone marrow aspirates in patients with myeloproliferative neoplasms. Blood. 2013;122(23):3784–6.CrossRefPubMedPubMedCentral
2.
Zurück zum Zitat Guglielmelli P, Barosi G, Specchia G, Rambaldi A, Coco FL, Antonioli E, et al. Identification of patients with poorer survival in primary myelofibrosis based on the burden of JAK2V617F mutated allele. Blood. 2009;114(8):1477–83.CrossRefPubMed Guglielmelli P, Barosi G, Specchia G, Rambaldi A, Coco FL, Antonioli E, et al. Identification of patients with poorer survival in primary myelofibrosis based on the burden of JAK2V617F mutated allele. Blood. 2009;114(8):1477–83.CrossRefPubMed
3.
Zurück zum Zitat Rapado I, Albizua E, Ayala R, Hernández JA, Garcia-Alonso L, Grande S, et al. Validity test study of JAK2 V617F and allele burden quantification in the diagnosis of myeloproliferative diseases. Ann Hematol. 2008;87(9):741–9.CrossRefPubMed Rapado I, Albizua E, Ayala R, Hernández JA, Garcia-Alonso L, Grande S, et al. Validity test study of JAK2 V617F and allele burden quantification in the diagnosis of myeloproliferative diseases. Ann Hematol. 2008;87(9):741–9.CrossRefPubMed
4.
Zurück zum Zitat Larsen TS, Pallisgaard N, Møller MB, Hasselbalch HC. The JAK2 V617F allele burden in essential thrombocythemia, polycythemia vera and primary myelofibrosis-impact on disease phenotype. Eur J Haematol. 2007;79(6):508–15.CrossRefPubMed Larsen TS, Pallisgaard N, Møller MB, Hasselbalch HC. The JAK2 V617F allele burden in essential thrombocythemia, polycythemia vera and primary myelofibrosis-impact on disease phenotype. Eur J Haematol. 2007;79(6):508–15.CrossRefPubMed
5.
Zurück zum Zitat Theocharides A, Passweg JR, Medinger M, Looser R, Li S, Hao-Shen H, et al. The allele burden of JAK2 mutations remains stable over several years in patients with myeloproliferative disorders. Haematologica. 2008;93(12):1890–3.CrossRefPubMed Theocharides A, Passweg JR, Medinger M, Looser R, Li S, Hao-Shen H, et al. The allele burden of JAK2 mutations remains stable over several years in patients with myeloproliferative disorders. Haematologica. 2008;93(12):1890–3.CrossRefPubMed
6.
Zurück zum Zitat Larsen TS, Pallisgaard N, de Stricker K, Møller MB, Hasselbalch HC. Limited efficacy of hydroxyurea in lowering of the JAK2 V617F allele burden. Hematology. 2009;14(1):11–5.CrossRefPubMed Larsen TS, Pallisgaard N, de Stricker K, Møller MB, Hasselbalch HC. Limited efficacy of hydroxyurea in lowering of the JAK2 V617F allele burden. Hematology. 2009;14(1):11–5.CrossRefPubMed
7.
Zurück zum Zitat Antonioli E, Carobbio A, Pieri L, Pancrazzi A, Guglielmelli P, Delaini F, et al. Hydroxyurea does not appreciably reduce JAK2 V617F allele burden in patients with polycythemia vera or essential thrombocythemia. Haematologica. 2010;95(8):1435–8.CrossRefPubMedPubMedCentral Antonioli E, Carobbio A, Pieri L, Pancrazzi A, Guglielmelli P, Delaini F, et al. Hydroxyurea does not appreciably reduce JAK2 V617F allele burden in patients with polycythemia vera or essential thrombocythemia. Haematologica. 2010;95(8):1435–8.CrossRefPubMedPubMedCentral
9.
Zurück zum Zitat Quintás-Cardama A, Abdel-Wahab O, Manshouri T, Kilpivaara O, Cortes J, Roupie A‑L, et al. Molecular analysis of patients with polycythemia vera or essential thrombocythemia receiving pegylated interferon α‑2a. Blood. 2013;122(6):893–901.CrossRefPubMedPubMedCentral Quintás-Cardama A, Abdel-Wahab O, Manshouri T, Kilpivaara O, Cortes J, Roupie A‑L, et al. Molecular analysis of patients with polycythemia vera or essential thrombocythemia receiving pegylated interferon α‑2a. Blood. 2013;122(6):893–901.CrossRefPubMedPubMedCentral
10.
Zurück zum Zitat Park SH, Chi H‑S, Cho Y‑U, Jang S, Park C‑J. The allele burden of JAK2 V617F can aid in differential diagnosis of Philadelphia chromosome-negative myeloproliferative neoplasm. Blood Res. 2013;48(2):128–32.CrossRefPubMedPubMedCentral Park SH, Chi H‑S, Cho Y‑U, Jang S, Park C‑J. The allele burden of JAK2 V617F can aid in differential diagnosis of Philadelphia chromosome-negative myeloproliferative neoplasm. Blood Res. 2013;48(2):128–32.CrossRefPubMedPubMedCentral
11.
Zurück zum Zitat Kreft A, Kindler T, Springer E, Kirkpatrick CJ. JAK2-V617F-mutated myeloproliferative neoplasms reveal different allele burden within hematopoietic cell lineages: a microdissection study of bone marrow trephine biopsies. Virchows Arch. 2011;459(5):521–7.CrossRefPubMed Kreft A, Kindler T, Springer E, Kirkpatrick CJ. JAK2-V617F-mutated myeloproliferative neoplasms reveal different allele burden within hematopoietic cell lineages: a microdissection study of bone marrow trephine biopsies. Virchows Arch. 2011;459(5):521–7.CrossRefPubMed
12.
Zurück zum Zitat Moliterno AR, Williams DM, Rogers O, Isaacs MA, Spivak JL. Phenotypic variability within the JAK2 V617F-positive MPD: roles of progenitor cell and neutrophil allele burdens. Exp Hematol. 2008;36(11):1480–1486.e2.CrossRefPubMedPubMedCentral Moliterno AR, Williams DM, Rogers O, Isaacs MA, Spivak JL. Phenotypic variability within the JAK2 V617F-positive MPD: roles of progenitor cell and neutrophil allele burdens. Exp Hematol. 2008;36(11):1480–1486.e2.CrossRefPubMedPubMedCentral
13.
Zurück zum Zitat Antonioli E, Guglielmelli P, Poli G, Bogani C, Pancrazzi A, Longo G, et al. Influence of JAK2V617F allele burden on phenotype in essential thrombocythemia. Haematologica. 2008;93(1):41–8.CrossRefPubMed Antonioli E, Guglielmelli P, Poli G, Bogani C, Pancrazzi A, Longo G, et al. Influence of JAK2V617F allele burden on phenotype in essential thrombocythemia. Haematologica. 2008;93(1):41–8.CrossRefPubMed
14.
Zurück zum Zitat 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.CrossRefPubMed 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.CrossRefPubMed
15.
Zurück zum Zitat Stein BL, Williams DM, Rogers O, Isaacs MA, Spivak JL, Moliterno AR. Disease burden at the progenitor level is a feature of primary myelofibrosis: a multivariable analysis of 164 JAK2 V617F-positive myeloproliferative neoplasm patients. Exp Hematol. 2011;39(1):95–101.CrossRefPubMed Stein BL, Williams DM, Rogers O, Isaacs MA, Spivak JL, Moliterno AR. Disease burden at the progenitor level is a feature of primary myelofibrosis: a multivariable analysis of 164 JAK2 V617F-positive myeloproliferative neoplasm patients. Exp Hematol. 2011;39(1):95–101.CrossRefPubMed
16.
Zurück zum Zitat Hussein K, Bock O, Theophile K, von Neuhoff N, Buhr T, Schlué J, et al. JAK2 V617F allele burden discriminates essential thrombocythemia from a subset of prefibrotic-stage primary myelofibrosis. Exp Hematol. 2009;37(10):1186–93.CrossRefPubMed Hussein K, Bock O, Theophile K, von Neuhoff N, Buhr T, Schlué J, et al. JAK2 V617F allele burden discriminates essential thrombocythemia from a subset of prefibrotic-stage primary myelofibrosis. Exp Hematol. 2009;37(10):1186–93.CrossRefPubMed
17.
Zurück zum Zitat 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.CrossRefPubMed 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.CrossRefPubMed
18.
Zurück zum Zitat 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.PubMed 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.PubMed
19.
Zurück zum Zitat Falanga A, Marchetti M, Vignoli A, Balducci D, Russo L, Guerini V, et al. V617F JAK-2 mutation in patients with essential thrombocythemia: relation to platelet, granulocyte, and plasma hemostatic and inflammatory molecules. Exp Hematol. 2007;35(5):702–11.CrossRefPubMed Falanga A, Marchetti M, Vignoli A, Balducci D, Russo L, Guerini V, et al. V617F JAK-2 mutation in patients with essential thrombocythemia: relation to platelet, granulocyte, and plasma hemostatic and inflammatory molecules. Exp Hematol. 2007;35(5):702–11.CrossRefPubMed
20.
Zurück zum Zitat Austin S, Lambert J. The JAK2V617F mutation and thrombosis. Br J Haematol. 2008;143(3):307–20.CrossRefPubMed Austin S, Lambert J. The JAK2V617F mutation and thrombosis. Br J Haematol. 2008;143(3):307–20.CrossRefPubMed
21.
Zurück zum Zitat Vannucchi A, Antonioli E, Guglielmelli P, Pardanani A, Tefferi A. Clinical correlates of JAK2V617F presence or allele burden in myeloproliferative neoplasms: a critical reappraisal. Leukemia. 2008;22(7):1299–307.CrossRefPubMed Vannucchi A, Antonioli E, Guglielmelli P, Pardanani A, Tefferi A. Clinical correlates of JAK2V617F presence or allele burden in myeloproliferative neoplasms: a critical reappraisal. Leukemia. 2008;22(7):1299–307.CrossRefPubMed
22.
Zurück zum Zitat Coucelo M, Caetano G, Sevivas T, Santos SA, Fidalgo T, Bento C, et al. JAK2V617F allele burden is associated with thrombotic mechanisms activation in polycythemia vera and essential thrombocythemia patients. Int J Hematol. 2014;99(1):32–40.CrossRefPubMed Coucelo M, Caetano G, Sevivas T, Santos SA, Fidalgo T, Bento C, et al. JAK2V617F allele burden is associated with thrombotic mechanisms activation in polycythemia vera and essential thrombocythemia patients. Int J Hematol. 2014;99(1):32–40.CrossRefPubMed
23.
Zurück zum Zitat Vannucchi AM, Pieri L, Guglielmelli P. JAK2 allele burden in the myeloproliferative neoplasms: effects on phenotype, prognosis and change with treatment. Ther Adv Hematol. 2010;2(1):21–32.CrossRef Vannucchi AM, Pieri L, Guglielmelli P. JAK2 allele burden in the myeloproliferative neoplasms: effects on phenotype, prognosis and change with treatment. Ther Adv Hematol. 2010;2(1):21–32.CrossRef
24.
Zurück zum Zitat Sirhan S, Lasho TL, Hanson CA, Mesa RA, Pardanani A, Tefferi A. The presence of JAK2V617F in primary myelofibrosis or its allele burden in polycythemia vera predicts chemosensitivity to hydroxyurea. Am J Hematol. 2008;83(5):363–5.CrossRefPubMed Sirhan S, Lasho TL, Hanson CA, Mesa RA, Pardanani A, Tefferi A. The presence of JAK2V617F in primary myelofibrosis or its allele burden in polycythemia vera predicts chemosensitivity to hydroxyurea. Am J Hematol. 2008;83(5):363–5.CrossRefPubMed
25.
Zurück zum Zitat Alshemmari SH, Rajaan R, Ameen R, Al-Drees MA, Almosailleakh MR. JAK2V617F allele burden in patients with myeloproliferative neoplasms. Ann Hematol. 2014;93(5):791–6.CrossRefPubMed Alshemmari SH, Rajaan R, Ameen R, Al-Drees MA, Almosailleakh MR. JAK2V617F allele burden in patients with myeloproliferative neoplasms. Ann Hematol. 2014;93(5):791–6.CrossRefPubMed
26.
Zurück zum Zitat Ancochea À, Álvarez-Larrán A, Morales-Indiano C, García-Pallarols F, Martínez-Avilés L, Angona A, et al. The role of serum erythropoietin level and jak2 v617f allele burden in the diagnosis of polycythaemia vera. Br J Haematol. 2014;167(3):411–7.CrossRefPubMed Ancochea À, Álvarez-Larrán A, Morales-Indiano C, García-Pallarols F, Martínez-Avilés L, Angona A, et al. The role of serum erythropoietin level and jak2 v617f allele burden in the diagnosis of polycythaemia vera. Br J Haematol. 2014;167(3):411–7.CrossRefPubMed
27.
Zurück zum Zitat Alchalby H, Badbaran A, Zabelina T, Kobbe G, Hahn J, Wolff D, et al. Impact of JAK2V617F mutation status, allele burden, and clearance after allogeneic stem cell transplantation for myelofibrosis. Blood. 2010;116(18):3572–81.CrossRefPubMed Alchalby H, Badbaran A, Zabelina T, Kobbe G, Hahn J, Wolff D, et al. Impact of JAK2V617F mutation status, allele burden, and clearance after allogeneic stem cell transplantation for myelofibrosis. Blood. 2010;116(18):3572–81.CrossRefPubMed
28.
Zurück zum Zitat Kröger N, Badbaran A, Holler E, Hahn J, Kobbe G, Bornhäuser M, et al. Monitoring of the JAK2-V617F mutation by highly sensitive quantitative real-time PCR after allogeneic stem cell transplantation in patients with myelofibrosis. Blood. 2007;109(3):1316–21.CrossRefPubMed Kröger N, Badbaran A, Holler E, Hahn J, Kobbe G, Bornhäuser M, et al. Monitoring of the JAK2-V617F mutation by highly sensitive quantitative real-time PCR after allogeneic stem cell transplantation in patients with myelofibrosis. Blood. 2007;109(3):1316–21.CrossRefPubMed
29.
Zurück zum Zitat 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.CrossRefPubMedPubMedCentral 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.CrossRefPubMedPubMedCentral
30.
Zurück zum Zitat Tefferi A, Lasho TL, Schwager SM, Steensma DP, Mesa RA, Li CY, et al. The JAK2V617F tyrosine kinase mutation in myelofibrosis with myeloid metaplasia: lineage specificity and clinical correlates. Br J Haematol. 2005;131(3):320–8.CrossRefPubMed Tefferi A, Lasho TL, Schwager SM, Steensma DP, Mesa RA, Li CY, et al. The JAK2V617F tyrosine kinase mutation in myelofibrosis with myeloid metaplasia: lineage specificity and clinical correlates. Br J Haematol. 2005;131(3):320–8.CrossRefPubMed
31.
Zurück zum Zitat Nussenzveig RH, Pham HT, Perkins SL, Prchal JT, Agarwal AM, Salama ME. Increased frequency of co-existing JAK2 exon-12 or MPL exon-10 mutations in patients with low JAK2V617F allelic burden. Leuk Lymphoma. 2016;57(6):1429–35.CrossRefPubMed Nussenzveig RH, Pham HT, Perkins SL, Prchal JT, Agarwal AM, Salama ME. Increased frequency of co-existing JAK2 exon-12 or MPL exon-10 mutations in patients with low JAK2V617F allelic burden. Leuk Lymphoma. 2016;57(6):1429–35.CrossRefPubMed
32.
Zurück zum Zitat 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.CrossRefPubMed 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.CrossRefPubMed
33.
Zurück zum Zitat Shirane S, Araki M, Morishita S, Edahiro Y, Sunami Y, Hironaka Y, et al. Consequences of the JAK2V617F allele burden for the prediction of transformation into myelofibrosis from polycythemia vera and essential thrombocythemia. Int J Hematol. 2015;101(2):148–53.CrossRefPubMed Shirane S, Araki M, Morishita S, Edahiro Y, Sunami Y, Hironaka Y, et al. Consequences of the JAK2V617F allele burden for the prediction of transformation into myelofibrosis from polycythemia vera and essential thrombocythemia. Int J Hematol. 2015;101(2):148–53.CrossRefPubMed
34.
Zurück zum Zitat Passamonti F, Rumi E, Arcaini L, Boveri E, Elena C, Pietra D, et al. Prognostic factors for thrombosis, myelofibrosis, and leukemia in essential thrombocythemia: a study of 605 patients. Haematologica. 2008;93(11):1645–51.CrossRefPubMed Passamonti F, Rumi E, Arcaini L, Boveri E, Elena C, Pietra D, et al. Prognostic factors for thrombosis, myelofibrosis, and leukemia in essential thrombocythemia: a study of 605 patients. Haematologica. 2008;93(11):1645–51.CrossRefPubMed
36.
Zurück zum Zitat Xavier SG, Gadelha T, Pimenta G, Eugenio AM, Ribeiro DD, Gomes FM, et al. JAK2V617F mutation in patients with splanchnic vein thrombosis. Dig Dis Sci. 2010;55(6):1770–7.CrossRefPubMed Xavier SG, Gadelha T, Pimenta G, Eugenio AM, Ribeiro DD, Gomes FM, et al. JAK2V617F mutation in patients with splanchnic vein thrombosis. Dig Dis Sci. 2010;55(6):1770–7.CrossRefPubMed
37.
Zurück zum Zitat Iurlo A, Cattaneo D, Gianelli U, Fermo E, Augello C, Cortelezzi A. Molecular analyses in the diagnosis of myeloproliferative neoplasm-related splanchnic vein thrombosis. Ann Hematol. 2015;94(5):881–2.CrossRefPubMed Iurlo A, Cattaneo D, Gianelli U, Fermo E, Augello C, Cortelezzi A. Molecular analyses in the diagnosis of myeloproliferative neoplasm-related splanchnic vein thrombosis. Ann Hematol. 2015;94(5):881–2.CrossRefPubMed
38.
Zurück zum Zitat Stein BL, Saraf S, Sobol U, Halpern A, Shammo J, Rondelli D, et al. Age-related differences in disease characteristics and clinical outcomes in polycythemia vera. Leuk Lymphoma. 2013;54(9):1989–95.CrossRefPubMed Stein BL, Saraf S, Sobol U, Halpern A, Shammo J, Rondelli D, et al. Age-related differences in disease characteristics and clinical outcomes in polycythemia vera. Leuk Lymphoma. 2013;54(9):1989–95.CrossRefPubMed
39.
Zurück zum Zitat Stein BL, Williams DM, Wang N‑Y, Rogers O, Isaacs MA, Pemmaraju N, et al. Sex differences in the JAK2V617F allele burden in chronic myeloproliferative disorders. Haematologica. 2010;95(7):1090–7.CrossRefPubMedPubMedCentral Stein BL, Williams DM, Wang N‑Y, Rogers O, Isaacs MA, Pemmaraju N, et al. Sex differences in the JAK2V617F allele burden in chronic myeloproliferative disorders. Haematologica. 2010;95(7):1090–7.CrossRefPubMedPubMedCentral
40.
Zurück zum Zitat 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.CrossRefPubMed 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.CrossRefPubMed
41.
Zurück zum Zitat Cervantes F, Passamonti F, Barosi G. Life expectancy and prognostic factors in the classic BCR/ABL-negative myeloproliferative disorders. Leukemia. 2008;22(5):905–14.CrossRefPubMed Cervantes F, Passamonti F, Barosi G. Life expectancy and prognostic factors in the classic BCR/ABL-negative myeloproliferative disorders. Leukemia. 2008;22(5):905–14.CrossRefPubMed
42.
Zurück zum Zitat Tefferi A, Lasho TL, Schwager SM, Strand JS, Elliott M, Mesa R, et al. The clinical phenotype of wild-type, heterozygous, and homozygous JAK2V617F in polycythemia vera. Cancer. 2006;106(3):631–5.CrossRefPubMed Tefferi A, Lasho TL, Schwager SM, Strand JS, Elliott M, Mesa R, et al. The clinical phenotype of wild-type, heterozygous, and homozygous JAK2V617F in polycythemia vera. Cancer. 2006;106(3):631–5.CrossRefPubMed
43.
Zurück zum Zitat Vannucchi AM, Antonioli E, Guglielmelli P, Rambaldi A, Barosi G, Marchioli R, et al. Clinical profile of homozygous JAK2 617V>F mutation in patients with polycythemia vera or essential thrombocythemia. Blood. 2007;110(3):840–6.CrossRefPubMed Vannucchi AM, Antonioli E, Guglielmelli P, Rambaldi A, Barosi G, Marchioli R, et al. Clinical profile of homozygous JAK2 617V>F mutation in patients with polycythemia vera or essential thrombocythemia. Blood. 2007;110(3):840–6.CrossRefPubMed
44.
Zurück zum Zitat Silver RT, Vandris K, Wang YL, Adriano F, Jones AV, Christos PJ, et al. JAK2 V617F allele burden in polycythemia vera correlates with grade of myelofibrosis, but is not substantially affected by therapy. Leuk Res. 2011;35(2):177–82.CrossRefPubMed Silver RT, Vandris K, Wang YL, Adriano F, Jones AV, Christos PJ, et al. JAK2 V617F allele burden in polycythemia vera correlates with grade of myelofibrosis, but is not substantially affected by therapy. Leuk Res. 2011;35(2):177–82.CrossRefPubMed
45.
Zurück zum Zitat 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.CrossRefPubMed 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.CrossRefPubMed
46.
Zurück zum Zitat Vannucchi A, Antonioli E, Guglielmelli P, Longo G, Pancrazzi A, Ponziani V, et al. Prospective identification of high-risk polycythemia vera patients based on JAK2V617F allele burden. Leukemia. 2007;21(9):1952–9.CrossRefPubMed Vannucchi A, Antonioli E, Guglielmelli P, Longo G, Pancrazzi A, Ponziani V, et al. Prospective identification of high-risk polycythemia vera patients based on JAK2V617F allele burden. Leukemia. 2007;21(9):1952–9.CrossRefPubMed
47.
Zurück zum Zitat 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. 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.
48.
Zurück zum Zitat Kinz E, Leiherer A, Lang A, Drexel H, Muendlein A. Accurate quantitation of JAK2 V617F allele burden by array-based digital PCR. Int J Lab Hematol. 2015;37(2):217–24.CrossRefPubMed Kinz E, Leiherer A, Lang A, Drexel H, Muendlein A. Accurate quantitation of JAK2 V617F allele burden by array-based digital PCR. Int J Lab Hematol. 2015;37(2):217–24.CrossRefPubMed
49.
Zurück zum Zitat Ye S, Dhillon S, Ke X, Collins AR, Day IN. An efficient procedure for genotyping single nucleotide polymorphisms. Nucleic Acids Res. 2001;29(17):e88-8.CrossRefPubMed Ye S, Dhillon S, Ke X, Collins AR, Day IN. An efficient procedure for genotyping single nucleotide polymorphisms. Nucleic Acids Res. 2001;29(17):e88-8.CrossRefPubMed
50.
Zurück zum Zitat Medrano RFV, de Oliveira CA. Guidelines for the tetra-primer ARMS-PCR technique development. Mol Biotechnol. 2014;56(7):599–608.PubMed Medrano RFV, de Oliveira CA. Guidelines for the tetra-primer ARMS-PCR technique development. Mol Biotechnol. 2014;56(7):599–608.PubMed
51.
Zurück zum Zitat Ginzinger DG. Gene quantification using real-time quantitative PCR: an emerging technology hits the mainstream. Exp Hematol. 2002;30(6):503–12.CrossRefPubMed Ginzinger DG. Gene quantification using real-time quantitative PCR: an emerging technology hits the mainstream. Exp Hematol. 2002;30(6):503–12.CrossRefPubMed
52.
Zurück zum Zitat Larkin P, Knoebl I, Denslow N. Differential gene expression analysis in fish exposed to endocrine disrupting compounds. Comp Biochem Physiol B, Biochem Mol Biol. 2003;136(2):149–61.CrossRefPubMed Larkin P, Knoebl I, Denslow N. Differential gene expression analysis in fish exposed to endocrine disrupting compounds. Comp Biochem Physiol B, Biochem Mol Biol. 2003;136(2):149–61.CrossRefPubMed
53.
Zurück zum Zitat Mujico JR, Lombardía M, Mena MC, Méndez E, Albar JP. A highly sensitive real-time PCR system for quantification of wheat contamination in gluten-free food for celiac patients. Food Chem. 2011;128(3):795–801.CrossRef Mujico JR, Lombardía M, Mena MC, Méndez E, Albar JP. A highly sensitive real-time PCR system for quantification of wheat contamination in gluten-free food for celiac patients. Food Chem. 2011;128(3):795–801.CrossRef
54.
Zurück zum Zitat Bustin SA, Benes V, Garson JA, Hellemans J, Huggett J, Kubista M, et al. The MIQE guidelines: minimum information for publication of quantitative real-time PCR experiments. Clin Chem. 2009;55(4):611–22.CrossRefPubMed Bustin SA, Benes V, Garson JA, Hellemans J, Huggett J, Kubista M, et al. The MIQE guidelines: minimum information for publication of quantitative real-time PCR experiments. Clin Chem. 2009;55(4):611–22.CrossRefPubMed
55.
Zurück zum Zitat 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.CrossRefPubMed 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.CrossRefPubMed
56.
Zurück zum Zitat Conte D, Verri C, Borzi C, Suatoni P, Pastorino U, Sozzi G, et al. Novel method to detect microRNAs using chip-based QuantStudio 3D digital PCR. BMC Genomics. 2015;16(1):1.CrossRef Conte D, Verri C, Borzi C, Suatoni P, Pastorino U, Sozzi G, et al. Novel method to detect microRNAs using chip-based QuantStudio 3D digital PCR. BMC Genomics. 2015;16(1):1.CrossRef
57.
Zurück zum Zitat Stabley DL, Harris AW, Holbrook J, Chubbs NJ, Lozo KW, Crawford TO, et al. SMN1 and SMN2 copy numbers in cell lines derived from patients with spinal muscular atrophy as measured by array digital PCR. Mol Genet Genomic Med. 2015;3(4):248–57.CrossRefPubMedPubMedCentral Stabley DL, Harris AW, Holbrook J, Chubbs NJ, Lozo KW, Crawford TO, et al. SMN1 and SMN2 copy numbers in cell lines derived from patients with spinal muscular atrophy as measured by array digital PCR. Mol Genet Genomic Med. 2015;3(4):248–57.CrossRefPubMedPubMedCentral
58.
Zurück zum Zitat Hayden R, Gu Z, Ingersoll J, Abdul-Ali D, Shi L, Pounds S, et al. Comparison of droplet digital PCR to real-time PCR for quantitative detection of cytomegalovirus. J Clin Microbiol. 2013;51(2):540–6.CrossRefPubMedPubMedCentral Hayden R, Gu Z, Ingersoll J, Abdul-Ali D, Shi L, Pounds S, et al. Comparison of droplet digital PCR to real-time PCR for quantitative detection of cytomegalovirus. J Clin Microbiol. 2013;51(2):540–6.CrossRefPubMedPubMedCentral
59.
Zurück zum Zitat Ha J‑S, Kim Y‑K, Jung S‑I, Jung H‑R, Chung I‑S. Correlations between Janus kinase 2 V617F allele burdens and clinicohematologic parameters in myeloproliferative neoplasms. Ann Lab Med. 2012;32(6):385–91.CrossRefPubMedPubMedCentral Ha J‑S, Kim Y‑K, Jung S‑I, Jung H‑R, Chung I‑S. Correlations between Janus kinase 2 V617F allele burdens and clinicohematologic parameters in myeloproliferative neoplasms. Ann Lab Med. 2012;32(6):385–91.CrossRefPubMedPubMedCentral
60.
Zurück zum Zitat Tefferi A, Strand J, Lasho T, Knudson R, Finke C, Gangat N, et al. Bone marrow JAK2V617F allele burden and clinical correlates in polycythemia vera. Leukemia. 2007;21(9):2074–5.CrossRefPubMed Tefferi A, Strand J, Lasho T, Knudson R, Finke C, Gangat N, et al. Bone marrow JAK2V617F allele burden and clinical correlates in polycythemia vera. Leukemia. 2007;21(9):2074–5.CrossRefPubMed
61.
Zurück zum Zitat Moliterno AR, Williams DM, Rogers O, Spivak JL. Molecular mimicry in the chronic myeloproliferative disorders: reciprocity between quantitative JAK2 V617F and Mpl expression. Blood. 2006;108(12):3913–5.CrossRefPubMedPubMedCentral Moliterno AR, Williams DM, Rogers O, Spivak JL. Molecular mimicry in the chronic myeloproliferative disorders: reciprocity between quantitative JAK2 V617F and Mpl expression. Blood. 2006;108(12):3913–5.CrossRefPubMedPubMedCentral
62.
Zurück zum Zitat Martinez-Aviles L, Besses C, Alvarez-Larran A, Torres E, Serrano S, Bellosillo B. TET2, ASXL1, IDH1, IDH2, and c‑CBL genes in JAK2- and MPL-negative myeloproliferative neoplasms. Ann Hematol. 2012;91(4):533–41.CrossRefPubMed Martinez-Aviles L, Besses C, Alvarez-Larran A, Torres E, Serrano S, Bellosillo B. TET2, ASXL1, IDH1, IDH2, and c‑CBL genes in JAK2- and MPL-negative myeloproliferative neoplasms. Ann Hematol. 2012;91(4):533–41.CrossRefPubMed
63.
Zurück zum Zitat Tibes R, Bogenberger JM, Benson KL, Mesa RA. Current outlook on molecular pathogenesis and treatment of myeloproliferative neoplasms. Mol Diagn Ther. 2012;16(5):269–83.CrossRefPubMed Tibes R, Bogenberger JM, Benson KL, Mesa RA. Current outlook on molecular pathogenesis and treatment of myeloproliferative neoplasms. Mol Diagn Ther. 2012;16(5):269–83.CrossRefPubMed
64.
Zurück zum Zitat Ha JS, Jeon DS, Kim JR, Ryoo NH, Suh JS. Analysis of the Ten-Eleven Translocation 2 (TET2) gene mutation in myeloproliferative neoplasms. Ann Clin Lab Sci. 2014;44(2):173–9.PubMed Ha JS, Jeon DS, Kim JR, Ryoo NH, Suh JS. Analysis of the Ten-Eleven Translocation 2 (TET2) gene mutation in myeloproliferative neoplasms. Ann Clin Lab Sci. 2014;44(2):173–9.PubMed
65.
Zurück zum Zitat Wang X, LeBlanc A, Gruenstein S, Xu M, Mascarenhas J, Panzera B, et al. Clonal analyses define the relationships between chromosomal abnormalities and JAK2V617F in patients with Ph-negative myeloproliferative neoplasms. Exp Hematol. 2009;37(10):1194–200.CrossRefPubMed Wang X, LeBlanc A, Gruenstein S, Xu M, Mascarenhas J, Panzera B, et al. Clonal analyses define the relationships between chromosomal abnormalities and JAK2V617F in patients with Ph-negative myeloproliferative neoplasms. Exp Hematol. 2009;37(10):1194–200.CrossRefPubMed
Metadaten
Titel
JAK2V617F allele burden: innovative concept in monitoring of myeloproliferative neoplasms
verfasst von
Soheila Bagheropur
Ali Ehsanpour
Maryam Tahmasebi Birgani
Najmaldin Saki
Publikationsdatum
22.03.2018
Verlag
Springer Vienna
Erschienen in
memo - Magazine of European Medical Oncology / Ausgabe 2/2018
Print ISSN: 1865-5041
Elektronische ISSN: 1865-5076
DOI
https://doi.org/10.1007/s12254-018-0397-x

Weitere Artikel der Ausgabe 2/2018

memo - Magazine of European Medical Oncology 2/2018 Zur Ausgabe