Two routes to leukemic transformation after a JAK2 mutation-positive myeloproliferative neoplasm

Blood

Volumn 115, Issue 14, 2010, Pages 2891-2900

  Beer, Philip A ^a   Delhommeau, François ^b   LeCouédic, Jean Pierre ^b   Dawson, Mark A ^a   Chen, Edwin ^a   Bareford, David ^c   Kušec, Rajko ^d   McMullin, Mary Frances ^e   Harrison, Claire N ^f   Vannucchi, Alessandro M ^g   Vainchenker, William ^b   Green, Anthony R ^a  

^a UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^b INSTITUT GUSTAVE ROUSSY   (France)

^c RUSSELLS HALL HOSPITAL   (United Kingdom)

^d University of Zagreb School of Medicine   (Croatia)

^e QUEEN'S UNIVERSITY BELFAST   (United Kingdom)

^f ST THOMAS HOSPITAL   (United Kingdom)

^g UNIVERSITY OF FLORENCE   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

CBL PROTEIN; JANUS KINASE 2; ONCOPROTEIN; PROTEIN NRAS; PROTEIN P53; PROTEIN TET2; TRANSCRIPTION FACTOR RUNX1; UNCLASSIFIED DRUG; WT1 PROTEIN;

ACUTE GRANULOCYTIC LEUKEMIA; ADULT; AGED; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE COURSE; FEMALE; GENE CONVERSION; GENE DELETION; GENE MUTATION; HUMAN; MALE; MOLECULAR CLOCK; MYELOID METAPLASIA; PHENOTYPE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 77950977381     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2009-08-236596     Document Type: Article

References (45)

1. Campbell PJ, Green AR. The myeloproliferative disorders. N Engl J Med. 2006;355(23):2452-2466.
2. Levine RL, Pardanani A, Tefferi A, Gilliland DG. Role of JAK2 in the pathogenesis and therapy of myeloproliferative disorders. Nat Rev Cancer. 2007;7(9):673-683. (Pubitemid 47327415)
3. Wolanskyj AP, Schwager SM, McClure RF, Larson DR, Tefferi A. Essential thrombocythemia beyond the first decade: life expectancy, long-term complication rates, and prognostic factors. Mayo Clin Proc. 2006;81(2):159-166. (Pubitemid 43205767)
4. 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(7):2664-2670.
5. Dupriez B, Morel P, Demory JL, et al. Prognostic factors in agnogenic myeloid metaplasia: a report on 195 cases with a new scoring system. Blood. 1996;88(3):1013-1018. (Pubitemid 26333326)
6. Plo I, Nakatake M, Malivert L, et al. JAK2 stimulates homologous recombination and genetic instability: potential implication in the heterogeneity of myeloproliferative disorders. Blood. 2008;112(4):1402-1412.
7. Zhao R, Follows GA, Beer PA, et al. Inhibition of the Bcl-xL deamidation pathway in myeloproliferative disorders. N Engl J Med. 2008;359(26):2778-2789.
8. Jelinek J, Oki Y, Gharibyan V, et al. JAK2 mutation 1849G>T is rare in acute leukemias but can be found in CMML, Philadelphia chromosome-negative CML, and megakaryocytic leukemia. Blood. 2005;106(10):3370-3373. (Pubitemid 41609167)
9. Campbell PJ, Baxter EJ, Beer PA, et al. Mutation of JAK2 in the myeloproliferative disorders: timing, clonality studies, cytogenetic associations, and role in leukemic transformation. Blood. 2006;108(10):3548- 3555.
10. Theocharides A, Boissinot M, Girodon F, et al. Leukemic blasts in transformed JAK2-V617F-positive myeloproliferative disorders are frequently negative for the JAK2-V617F mutation. Blood. 2007;110(1):375-379. (Pubitemid 47026857)
11. Kralovics R, Stockton DW, Prchal JT. Clonal hematopoiesis in familial polycythemia vera suggests the involvement of multiple mutational events in the early pathogenesis of the disease. Blood. 2003;102(10):3793-3796. (Pubitemid 37409402)
12. Landgren O, Goldin LR, Kristinsson SY, Helgadottir EA, Samuelsson J, Bjorkholm M. 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(6):2199-2204.
13. Kralovics R, Teo SS, Li S, et al. Acquisition of the V617F mutation of JAK2 is a late genetic event in a subset of patients with myeloproliferative disorders. Blood. 2006;108(4):1377-1380. (Pubitemid 44232040)
14. Levine RL, Belisle C, Wadleigh M, et al. X-inactivation-based clonality analysis and quantitative JAK2V617F assessment reveal a strong association between clonality and JAK2V617F in PV but not ET/MMM, and identifies a subset of JAK2V617F-negative ET and MMM patients with clonal hematopoiesis. Blood. 2006;107(10):4139-4141. (Pubitemid 43726824)
15. Nussenzveig RH, Swierczek SI, Jelinek J, et al. Polycythemia vera is not initiated by JAK2V617F mutation. Exp Hematol. 2007;35(1):32-38. (Pubitemid 46014382)
16. Li S, Kralovics R, De Libero G, Theocharides A, Gisslinger H, Skoda RC. Clonal heterogeneity in polycythemia vera patients with JAK2 exon12 and JAK2-V617F mutations. Blood. 2008;111(7):3863-3866.
17. Schmitt-Graeff AH, Teo SS, Olschewski M, et al. JAK2V617F mutation status identifies subtypes of refractory anemia with ringed sideroblasts associated with marked thrombocytosis. Haematologica. 2008;93(1):34-40. (Pubitemid 351156149)
18. Delhommeau F, Dupont S, Della Valle V, et al. Mutation in TET2 in myeloid cancers. N Engl J Med. 2009;360(22):2289-2301.
19. Beer PA, Jones AV, Bench AJ, et al. Clonal diversity in the myeloproliferative neoplasms: independent origins of genetically distinct clones. Br J Haematol. 2009;144(6):904-908.
20. Swerdlow SH, Campo E, Harris NL, et al. WHO classification of Tumours of Haematopoietic and Lymphoid Tissues. Lyon, France: IARC Press; 2008.
21. Harrison CN, Campbell PJ, Buck G, et al. Hydroxyurea compared with anagrelide in high-risk essential thrombocythemia. N Engl J Med. 2005;353(1):33-45. (Pubitemid 41007805)
22. Baxter EJ, Scott LM, Campbell PJ, et al. Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. Lancet. 2005;365(9464):1054-1061.
23. Kralovics R, Passamonti F, Buser AS, et al. A gain-of-function mutation of JAK2 in myeloproliferative disorders. N Engl J Med. 2005;352(17):1779-1790. (Pubitemid 40570926)
24. Gaiger A, Henn T, Horth E, et al. Increase of bcrabl chimeric mRNA expression in tumor cells of patients with chronic myeloid leukemia precedes disease progression. Blood. 1995;86(6):2371-2378.
25. Delhommeau F, Dupont S, James C, et al. TET2 is a novel tumor suppressor gene inactivated in myeloproliferative neoplasms: identification of a pre-JAK2 V617F event [abstract]. Blood. 2008;112(11):Abstract 3.
26. Tefferi A, Lasho TL, Schwager SM, et al. The JAK2(V617F) tyrosine kinase mutation in myelo- fibrosis with myeloid metaplasia: lineage speci- ficity and clinical correlates. Br J Haematol. 2005;131(3):320-328. (Pubitemid 43899664)
27. Cervantes F, Alvarez-Larran A, Talarn C, Gomez M, Montserrat E. Myelofibrosis with myeloid metaplasia following essential thrombocythaemia: actuarial probability, presenting characteristics and evolution in a series of 195 patients. Br J Haematol. 2002;118(3):786-790. (Pubitemid 35007383)
28. Mertens F, Johansson B, Heim S, Kristoffersson U, Mitelman F. Karyotypic patterns in chronic myeloproliferative disorders: report on 74 cases and review of the literature. Leukemia. 1991;5(3):214-220.
29. Tefferi A, Mesa RA, Schroeder G, Hanson CA, Li CY, Dewald GW. Cytogenetic findings and their clinical relevance in myelofibrosis with myeloid metaplasia. Br J Haematol. 2001;113(3):763-771. (Pubitemid 32524401)
30. Jost E, do O N, Dahl E, et al. Epigenetic alterations complement mutation of JAK2 tyrosine kinase in patients with BCR/ABL-negative myeloproliferative disorders. Leukemia. 2007;21(3):505-510. (Pubitemid 46306562)
31. Oppliger Leibundgut E, Horn MP, Brunold C, et al. Hematopoietic and endothelial progenitor cell trafficking in patients with myeloproliferative diseases. Haematologica. 2006;91(11):1465-1472. (Pubitemid 44736112)
32. Cervantes F, Pereira A, Esteve J, et al. Identification of 'short-lived' and 'long-lived' patients at presentation of idiopathic myelofibrosis. Br J Haematol. 1997;97(3):635-640. (Pubitemid 27261631)
33. Merlat A, Lai JL, Sterkers Y, et al. Therapy-related myelodysplastic syndrome and acute myeloid leukemia with 17p deletion: a report on 25 cases. Leukemia. 1999;13(2):250-257. (Pubitemid 29092658)
34. Sterkers Y, Preudhomme C, Lai JL, et al. Acute myeloid leukemia and myelodysplastic syndromes following essential thrombocythemia treated with hydroxyurea: high proportion of cases with 17p deletion. Blood. 1998;91(2):616-622. (Pubitemid 28053386)
35. Nielsen I, Hasselbalch HC. Acute leukemia and myelodysplasia in patients with a Philadelphia chromosome negative chronic myeloproliferative disorder treated with hydroxyurea alone or with hydroxyurea after busulphan. Am J Hematol. 2003;74(1):26-31. (Pubitemid 37040191)
36. Gangat N, Wolanskyj AP, McClure RF, et al. Risk stratification for survival and leukemic transformation in essential thrombocythemia: a single institutional study of 605 patients. Leukemia. 2007;21(2):270-276. (Pubitemid 46158119)
37. Björkholm J, Derolf AR, Ekstrand C, et al. Risk for AML/MDS transformation in Philadelphia negative chronic myeloproliferative neoplasms: a population-based nested case-control study in Sweden. Haematologica. 2009;94(s2):438-.
38. Lanzkron S, Strouse JJ, Wilson R, et al. Systematic review: hydroxyurea for the treatment of adults with sickle cell disease. Ann Intern Med. 2008;148(12):939-955. (Pubitemid 351860826)
39. Campbell PJ, Scott LM, Buck G, et al. Definition of subtypes of essential thrombocythaemia and relation to polycythaemia vera based on JAK2 V617F mutation status: a prospective study. Lancet. 2005;366(9501):1945-1953.
40. Schaub FX, Jager R, Looser R, et al. Clonal analysis of deletions on chromosome 20q and JAK2- V617F in MPD suggests that del20q acts independently and is not one of the pre-disposing mutations for JAK2-V617F. Blood. 2009;113(9):2022-2027.
41. Olcaydu D, Harutyunyan A, Jager R, et al. A common JAK2 haplotype confers susceptibility to myeloproliferative neoplasms. Nat Genet. 2009;41(4):450-454.
42. Deininger MW, Cortes J, Paquette R, et al. The prognosis for patients with chronic myeloid leukemia who have clonal cytogenetic abnormalities in Philadelphia chromosome-negative cells. Cancer. 2007;110(7):1509-1519.
43. Sidransky D, Frost P, Von Eschenbach A, Oyasu R, Preisinger AC, Vogelstein B. Clonal origin bladder cancer. N Engl J Med. 1992;326(11):737-740.
44. Leedham SJ, Preston SL, McDonald SA, et al. Individual crypt genetic heterogeneity and the origin of metaplastic glandular epithelium in human Barrett's oesophagus. Gut. 2008;57(8):1041-1048.
45. Shattuck TM, Westra WH, Ladenson PW, Arnold A. Independent clonal origins of distinct tumor foci in multifocal papillary thyroid carcinoma. N Engl J Med. 2005;352(23):2406-2412. (Pubitemid 40958437)