Long term follow up of 93 families with myeloproliferative neoplasms: Life expectancy and implications of JAK2V617F in the occurrence of complications

Blood Cells, Molecules, and Diseases

Volumn 49, Issue 3-4, 2012, Pages 170-176

  Malak, Sandra ^a,b   Labopin, Myriam ^a   Saint Martin, Cecile ^a   Bellanne Chantelot, Christine ^a,b   Najman, Albert ^a,b  

^a ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^b France Intergroupe des Syndromes Myeloproliferatifs ^*  (France)

Author keywords

Complications; Familial myeloproliferative neoplasms; Follow up; JAK2V617F mutation; Life expectancy

Indexed keywords

HEMOGLOBIN; HYDROXYUREA; JANUS KINASE 2; PIPOBROMAN;

ACUTE LEUKEMIA; ADOLESCENT; ADULT; AGED; ALLELE; ARTICLE; BELGIUM; CANCER GROWTH; CARCINOGENESIS; CEREBROVASCULAR ACCIDENT; CHILD; CHRONIC MYELOID LEUKEMIA; CONTROLLED STUDY; CYTOREDUCTIVE SURGERY; DEEP SPLANCHNIC THROMBOSIS; FEMALE; FOLLOW UP; FRANCE; GENE; GENETIC CONSERVATION; GENETIC TRANSFORMATION; HEART INFARCTION; HEMATOCRIT; HUMAN; INFANT; JAK2 GENE; LEUKOCYTE COUNT; LIFE EXPECTANCY; MAJOR CLINICAL STUDY; MALE; MORTALITY; MUTATIONAL ANALYSIS; MYELOFIBROSIS; MYELOID METAPLASIA; MYELOPROLIFERATIVE NEOPLASM; OVERALL SURVIVAL; POLYCYTHEMIA VERA; PRESCHOOL CHILD; PRIORITY JOURNAL; PROGNOSIS; SCHOOL CHILD; SEX DIFFERENCE; THROMBOCYTE COUNT; THROMBOCYTHEMIA; THROMBOSIS; THROMBOTIC THROMBOCYTOPENIC PURPURA; TREND STUDY;

ADULT; AGED; AGED, 80 AND OVER; ALLELES; DISEASE PROGRESSION; FEMALE; FOLLOW-UP STUDIES; GENE FREQUENCY; HUMANS; JANUS KINASE 2; LEUKEMIA, MYELOGENOUS, CHRONIC, BCR-ABL POSITIVE; LIFE EXPECTANCY; MALE; MIDDLE AGED; POINT MUTATION; POLYCYTHEMIA VERA; PRIMARY MYELOFIBROSIS; SURVIVAL ANALYSIS; THROMBOCYTHEMIA, ESSENTIAL; THROMBOSIS; YOUNG ADULT;

EID: 84866004926     PISSN: 10799796     EISSN: 10960961     Source Type: Journal    
DOI: 10.1016/j.bcmd.2012.06.004     Document Type: Article

References (57)

1. Spivak J.L. Polycythemia vera: myths, mechanisms, and management. Blood 2002, 100:4272-4290.
2. Dameshek W. Some speculations on the myeloproliferative syndromes. Blood 1951, 372-375.
3. James C., Ugo V., Le Couedic J.P., et al. A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera. Nature 2005, 434:1144-1148.
4. Levine R.L., Wadleigh M., Cools J., et al. Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis. Cancer Cell 2005, 7:387-397.
5. Baxter E.J., Scott L.M., Campbell P.J., et al. Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. Lancet 2005, 365:1054-1061.
6. Kralovics R., Passamonti F., Buser A.S., et al. A gain-of-function mutation of JAK2 in myeloproliferative disorders. N. Engl. J. Med. 2005, 352:1779-1790.
7. Campbell P.J., Green A.R. The myeloproliferative disorders. N. Engl. J. Med. 2006, 355:2452-2466.
8. Scott L.M., Tong W., Levine R.L., et al. JAK2 exon 12 mutations in polycythemia vera and idiopathic erythrocytosis. N. Engl. J. Med. 2007, 356:459-468.
9. Pikman Y., Lee B.H., Mercher T., et al. MPLW515L is a novel somatic activating mutation in myelofibrosis with myeloid metaplasia. PLoS Med. 2006, 3:e270.
10. Delhommeau F., Dupont S., Della Valle V., et al. Mutation in TET2 in myeloid cancers. N. Engl. J. Med. 2009, 360:2289-2301.
11. Olcaydu D., Harutyunyan A., Jager R., et al. A common JAK2 haplotype confers susceptibility to myeloproliferative neoplasms. Nat. Genet. 2009, 41:450-454.
12. Kilpivaara O., Mukherjee S., Schram A.M., et al. A germline JAK2 SNP is associated with predisposition to the development of JAK2(V617F)-positive myeloproliferative neoplasms. Nat. Genet. 2009, 41:455-459.
13. Jones A.V., Chase A., Silver R.T., et al. JAK2 haplotype is a major risk factor for the development of myeloproliferative neoplasms. Nat. Genet. 2009, 41:446-449.
14. Bellanne-Chantelot C., Chaumarel I., Labopin M., et al. Genetic and clinical implications of the Val617Phe JAK2 mutation in 72 families with myeloproliferative disorders. Blood 2006, 108:346-352.
15. Cario H., Goerttler P.S., Steimle C., Levine R.L., Pahl H.L. The JAK2V617F mutation is acquired secondary to the predisposing alteration in familial polycythaemia vera. Br. J. Haematol. 2005, 130:800-801.
16. Rumi E., Passamonti F., Pietra D., et al. JAK2 (V617F) as an acquired somatic mutation and a secondary genetic event associated with disease progression in familial myeloproliferative disorders. Cancer 2006, 107:2206-2211.
17. Pardanani A., Lasho T., McClure R., Lacy M., Tefferi A. Discordant distribution of JAK2V617F mutation in siblings with familial myeloproliferative disorders. Blood 2006, 107:4572-4573.
18. Kralovics R., Stockton D.W., Prchal J.T. Clonal hematopoiesis in familial polycythemia vera suggests the involvement of multiple mutational events in the early pathogenesis of the disease. Blood 2003, 102:3793-3796.
19. Landgren O., Goldin L.R., Kristinsson S.Y., et al. Increased risks of polycythemia vera, essential thrombocythemia, and myelofibrosis among 24,577 first-degree relatives of 11,039 patients with myeloproliferative neoplasms in Sweden. Blood 2008, 112:2199-2204.
20. Tursz T., Hakim J., Boivin P., Mallarme J. Familial Vaquez's diseases. Presse Med. 1971, 79:2427-2432.
21. Brubaker L.H., Wasserman L.R., Goldberg J.D., et al. Increased prevalence of polycythemia vera in parents of patients on polycythemia vera study group protocols. Am. J. Hematol. 1984, 16:367-373.
22. Najean Y., Rain J.D., Billotey C. Epidemiological data in polycythaemia vera: a study of 842 cases. Hematol. Cell Ther. 1998, 40:159-165.
23. Rumi E., Passamonti F., Della Porta M.G., et al. Familial chronic myeloproliferative disorders: clinical phenotype and evidence of disease anticipation. J. Clin. Oncol. 2007, 25:5630-5635.
24. Saint-Martin C., Leroy G., Delhommeau F., et al. Analysis of the ten-eleven translocation 2 (TET2) gene in familial myeloproliferative neoplasms. Blood 2009, 114:1628-1632.
25. Olcaydu D., Rumi E., Harutyunyan A., et al. The role of the JAK2 GGCC haplotype and the TET2 gene in familial myeloproliferative neoplasms. Haematologica 2011, 96:367-374.
26. Passamonti F., Rumi E., Pungolino E., et al. Life expectancy and prognostic factors for survival in patients with polycythemia vera and essential thrombocythemia. Am. J. Med. 2004, 117:755-761.
27. Wolanskyj A.P., Schwager S.M., McClure R.F., Larson D.R., Tefferi A. Essential thrombocythemia beyond the first decade: life expectancy, long-term complication rates, and prognostic factors. Mayo Clin. Proc. 2006, 81:159-166.
28. Cervantes F., Dupriez B., Pereira A., et al. New prognostic scoring system for primary myelofibrosis based on a study of the International Working Group for Myelofibrosis Research and Treatment. Blood 2009, 113:2895-2901.
29. Vainchenker W., Delhommeau F., Constantinescu S.N., Bernard O.A. New mutations and pathogenesis of myeloproliferative neoplasms. Blood 2011, 118:1723-1735.
30. Tefferi A., Murphy S. Current opinion in essential thrombocythemia: pathogenesis, diagnosis, and management. Blood Rev. 2001, 15:121-131.
31. Tefferi A., Vardiman J.W. Classification and diagnosis of myeloproliferative neoplasms: the 2008 World Health Organization criteria and point-of-care diagnostic algorithms. Leukemia 2008, 22:14-22.
32. Barosi G. Myelofibrosis with myeloid metaplasia: diagnostic definition and prognostic classification for clinical studies and treatment guidelines. J. Clin. Oncol. 1999, 17:2954-2970.
33. Berk P.D., Goldberg J.D., Donovan P.B., et al. Therapeutic recommendations in polycythemia vera based on Polycythemia Vera Study Group protocols. Semin. Hematol. 1986, 23:132-143.
34. Murphy S., Iland H., Rosenthal D., Laszlo J. Essential thrombocythemia: an interim report from the Polycythemia Vera Study Group. Semin. Hematol. 1986, 23:177-182.
35. Murphy S., Peterson P., Iland H., Laszlo J. Experience of the Polycythemia Vera Study Group with essential thrombocythemia: a final report on diagnostic criteria, survival, and leukemic transition by treatment. Semin. Hematol. 1997, 34:29-39.
36. Vardiman J.W., Harris N.L., Brunning R.D. The World Health Organization (WHO) classification of the myeloid neoplasms. Blood 2002, 100:2292-2302.
37. Kaplan E., Meier P. Nonparametric estimation from incomplete observations. J. Am. Stat. Assoc. 1958, 457-481.
38. Rumi E. Familial chronic myeloproliferative disorders: the state of the art. Hematol. Oncol. 2008, 26:131-138.
39. Kiladjian J.J., Chevret S., Dosquet C., Chomienne C., Rain J.D. Treatment of polycythemia vera with hydroxyurea and pipobroman: final results of a randomized trial initiated in 1980. J. Clin. Oncol. 2011, 29:3907-3913.
40. Passamonti F., Rumi E., Arcaini L., et al. Prognostic factors for thrombosis, myelofibrosis, and leukemia in essential thrombocythemia: a study of 605 patients. Haematologica 2008, 93:1645-1651.
41. Wolanskyj A.P., Lasho T.L., Schwager S.M., et al. JAK2 mutation in essential thrombocythaemia: clinical associations and long-term prognostic relevance. Br. J. Haematol. 2005, 131:208-213.
42. Barbui T., Thiele J., Passamonti F., et al. Survival and disease progression in essential thrombocythemia are significantly influenced by accurate morphologic diagnosis: an international study. J. Clin. Oncol. 2011, 29:3179-3184.
43. Finazzi G., Caruso V., Marchioli R., et al. Acute leukemia in polycythemia vera: an analysis of 1638 patients enrolled in a prospective observational study. Blood 2005, 105:2664-2670.
44. Carobbio A., Thiele J., Passamonti F., et al. Risk factors for arterial and venous thrombosis in WHO-defined essential thrombocythemia: an international study of 891 patients. Blood 2011, 117:5857-5859.
45. Bjorkholm M., Derolf A.R., Hultcrantz M., et al. Treatment-related risk factors for transformation to acute myeloid leukemia and myelodysplastic syndromes in myeloproliferative neoplasms. J. Clin. Oncol. 2011, 29:2410-2415.
46. Tefferi A. Novel mutations and their functional and clinical relevance in myeloproliferative neoplasms: JAK2, MPL, TET2, ASXL1, CBL, IDH and IKZF1. Leukemia 2010, 24:1128-1138.
47. Passamonti F., Rumi E., Pietra D., 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, 24:1574-1579.
48. Palandri F., Ottaviani E., Salmi F., et al. JAK2 V617F mutation in essential thrombocythemia: correlation with clinical characteristics, response to therapy and long-term outcome in a cohort of 275 patients. Leuk. Lymphoma 2009, 50:247-253.
49. Tefferi A., Pardanani A., Lim K.H., et al. TET2 mutations and their clinical correlates in polycythemia vera, essential thrombocythemia and myelofibrosis. Leukemia 2009, 23:905-911.
50. Abdel-Wahab O., Manshouri T., Patel J., et al. Genetic analysis of transforming events that convert chronic myeloproliferative neoplasms to leukemias. Cancer Res. 2010, 70:447-452.
51. Lacout C., Pisani D.F., Tulliez M., et al. JAK2V617F expression in murine hematopoietic cells leads to MPD mimicking human PV with secondary myelofibrosis. Blood 2006, 108:1652-1660.
52. Marty C., Lacout C., Martin A., et al. Myeloproliferative neoplasm induced by constitutive expression of JAK2V617F in knock-in mice. Blood 2010, 116:783-787.
53. Passamonti F., Rumi E., Pietra D., et al. Relation between JAK2 (V617F) mutation status, granulocyte activation, and constitutive mobilization of CD34+ cells into peripheral blood in myeloproliferative disorders. Blood 2006, 107:3676-3682.
54. Vannucchi A.M., Antonioli E., Guglielmelli P., et al. Clinical profile of homozygous JAK2 617V>F mutation in patients with polycythemia vera or essential thrombocythemia. Blood 2007, 110:840-846.
55. Carobbio A., Finazzi G., Antonioli E., et al. JAK2V617F allele burden and thrombosis: a direct comparison in essential thrombocythemia and polycythemia vera. Exp. Hematol. 2009, 37:1016-1021.
56. Vannucchi A.M., Antonioli E., Guglielmelli P., Pardanani A., Tefferi A. Clinical correlates of JAK2V617F presence or allele burden in myeloproliferative neoplasms: a critical reappraisal. Leukemia 2008, 22:1299-1307.
57. Vianello F., Battisti A., Cella G., Marchetti M., Falanga A. Defining the thrombotic risk in patients with myeloproliferative neoplasms. Sci. World J. 2011, 11:1131-1137.