The Myeloproliferative Neoplasms: Insights into Molecular Pathogenesis and Changes in WHO Classification and Criteria for Diagnosis

Hematology/Oncology Clinics of North America

Volumn 23, Issue 4, 2009, Pages 693-708

  Anastasi, John ^a  

^a UNIVERSITY OF CHICAGO   (United States)

Author keywords

Essential thrombocytosis; Myeloproliferative neoplasms; Polycythemia vera; Primary myelofibrosis; Tyrosine kinase

Indexed keywords

JANUS KINASE 2; PROTEIN TYROSINE KINASE;

BONE MARROW CANCER; CANCER CLASSIFICATION; CANCER DIAGNOSIS; CHRONIC MYELOID LEUKEMIA; CHRONIC NEUTROPHILIC LEUKEMIA; EOSINOPHILIA; GENE MUTATION; HEMATOPOIETIC SYSTEM TUMOR; HUMAN; LEUKEMOGENESIS; LYMPHOMA; MOLECULAR GENETICS; MYELOID METAPLASIA; MYELOPROLIFERATIVE DISORDER; PATHOGENESIS; PRIORITY JOURNAL; REVIEW; SARCOMA; THROMBOCYTHEMIA; WORLD HEALTH ORGANIZATION;

HEMATOLOGIC NEOPLASMS; HUMANS; JANUS KINASE 2; MUTATION; MYELOPROLIFERATIVE DISORDERS; PROTEIN-TYROSINE KINASES; SIGNAL TRANSDUCTION; WORLD HEALTH ORGANIZATION;

EID: 67649441086     PISSN: 08898588     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.hoc.2009.04.002     Document Type: Review

References (60)

1. In: Swerdlow S.H., Campo E., Harris N.L., et al. (Eds). WHO classification of tumours of haematopoietic and lymphoid tissues (2008), IARC, Lyon
2. In: Jaffe E.S., Harris N.L., Stein H., et al. (Eds). WHO classification of tumours. Pathology and genetics of tumours of haematopoietic and lymphoid tissues (2001), IARC Press, Lyon
3. Levine R.L., and Gilliland D.G. Myeloproliferative disorders. Blood 112 (2008) 2190-2198
4. Smith C.A., and Fan G. The saga of JAK2 mutations and translocations in hematologic disorders: pathogenesis, diagnostic and therapeutic prospects, and revised World Health Organization diagnostic criteria for myeloproliferative neoplasms. Hum Pathol 39 (2008) 795-810
5. Tefferi A., and Gilliland D.G. Oncogenes in myeloproliferative disorders. Cell Cycle 6 (2007) 550-566
6. Dameshek W. Some speculations on the myeloproliferative syndromes. Blood 6 (1951) 372-375
7. Tefferi A., and Vardiman J.W. Classification and diagnosis of myeloproliferative neoplasms: the 2008 World Health Organization criteria and point-of-care diagnostic algorithms. Leukemia 22 (2008) 14-22
8. Anastasi J. The myeloproliferative and overlap myelodysplastic/myeloproliferative disorders. In: Hsi E.D. (Ed). Hematopathology (2007), Elsevier, Philadelphia 455-492
9. Bennett J.H. Two cases of disease and enlargement of the spleen in which death took place from the presence of purulent matter in the blood. Edinburgh Med Surg J 64 (1845) 413
10. Virchow P. Weisses blut. Froriep's Notizen 36 (1845) 151
11. Nowell P.C., and Hungerford D.A. Chromosome studies on normal and leukemic human leukocytes. J Natl Cancer Inst 25 (1960) 85-109
12. Rowley J.D. Letter: a new consistent chromosomal abnormality in chronic myelogenous leukaemia identified by quinacrine fluorescence and Giemsa staining. Nature 243 (1973) 290-293
13. Bartram C.R., de Klein A., Hagemeijer A., et al. Translocation of c-ab1 oncogene correlates with the presence of a Philadelphia chromosome in chronic myelocytic leukaemia. Nature 306 (1983) 277-280
14. Konopka J.B., and Witte O.N. Detection of c-abl tyrosine kinase activity in vitro permits direct comparison of normal and altered abl gene products. Mol Cell Biol 5 (1985) 3116-3123
15. Shtivelman E., Lifshitz B., Gale R.P., et al. Fused transcript of abl and bcr genes in chronic myelogenous leukaemia. Nature 315 (1985) 550-554
16. Druker B.J., Tamura S., Buchdunger E., et al. Effects of a selective inhibitor of the Abl tyrosine kinase on the growth of Bcr-Abl positive cells. Nat Med 2 (1996) 561-566
17. Deininger M.W. Management of early stage disease. Hematology Am Soc Hematol Educ Program (2005) 174-182
18. Druker B.J., Sawyers C.L., Kantarjian H., et al. Activity of a specific inhibitor of the BCR-ABL tyrosine kinase in the blast crisis of chronic myeloid leukemia and acute lymphoblastic leukemia with the Philadelphia chromosome. N Engl J Med 344 (2001) 1038-1042
19. Hughes T., Deininger M., Hochhaus A., et al. Monitoring CML patients responding to treatment with tyrosine kinase inhibitors: review and recommendations for harmonizing current methodology for detecting BCR-ABL transcripts and kinase domain mutations and for expressing results. Blood 108 (2006) 28-37
20. Gorre M.E., Mohammed M., Ellwood K., et al. Clinical resistance to STI-571 cancer therapy caused by BCR-ABL gene mutation or amplification. Science 293 (2001) 876-880
21. Irving J.A., O'Brien S., Lennard A.L., et al. Use of denaturing HPLC for detection of mutations in the BCR-ABL kinase domain in patients resistant to imatinib. Clin Chem 50 (2004) 1233-1237
22. Walz C., and Sattler M. Novel targeted therapies to overcome imatinib mesylate resistance in chronic myeloid leukemia (CML). Crit Rev Oncol Hematol 57 (2006) 145-164
23. Kramer A. JAK2-V617F and BCR-ABL-double jeopardy?. Leuk Res 32 (2008) 1489
24. Raskind W.H., Tirumali N., Jacobson R., et al. Evidence for a multistep pathogenesis of a myelodysplastic syndrome. Blood 63 (1984) 1318-1323
25. Apperley J.F., Gardembas M., Melo J.V., et al. Response to imatinib mesylate in patients with chronic myeloproliferative diseases with rearrangements of the platelet-derived growth factor receptor beta. N Engl J Med 347 (2002) 481-487
26. Cools J., DeAngelo D.J., Gotlib J., et al. A tyrosine kinase created by fusion of the PDGFRA and FIP1L1 genes as a therapeutic target of imatinib in idiopathic hypereosinophilic syndrome. N Engl J Med 348 (2003) 1201-1214
27. Pardanani A., Reeder T., Porrata L.F., et al. Imatinib therapy for hypereosinophilic syndrome and other eosinophilic disorders. Blood 101 (2003) 3391-3397
28. Golub T.R., Barker G.F., Lovett M., et al. Fusion of PDGF receptor beta to a novel ets-like gene, tel, in chronic myelomonocytic leukemia with t(5;12) chromosomal translocation. Cell 77 (1994) 307-316
29. Pardanani A., Ketterling R.P., Brockman S.R., et al. CHIC2 deletion, a surrogate for FIP1L1-PDGFRA fusion, occurs in systemic mastocytosis associated with eosinophilia and predicts response to imatinib mesylate therapy. Blood 102 (2003) 3093-3096
30. Macdonald D., Aguiar R.C., Mason P.J., et al. A new myeloproliferative disorder associated with chromosomal translocations involving 8p11: a review. Leukemia 9 (1995) 1628-1630
31. Macdonald D., Reiter A., and Cross N.C. The 8p11 myeloproliferative syndrome: a distinct clinical entity caused by constitutive activation of FGFR1. Acta Haematol 107 (2002) 101-107
32. Baxter E.J., Scott L.M., Campbell P.J., et al. Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. Lancet 365 (2005) 1054-1061
33. James C., Ugo V., Le Couedic J.P., et al. A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera. Nature 434 (2005) 1144-1148
34. Kralovics R., Passamonti F., Buser A.S., et al. A gain-of-function mutation of JAK2 in myeloproliferative disorders. N Engl J Med 352 (2005) 1779-1790
35. Levine R.L., Loriaux M., Huntly B.J., et al. The JAK2V617F activating mutation occurs in chronic myelomonocytic leukemia and acute myeloid leukemia, but not in acute lymphoblastic leukemia or chronic lymphocytic leukemia. Blood 106 (2005) 3377-3379
36. Kralovics R., Guan Y., and Prchal J.T. Acquired uniparental disomy of chromosome 9p is a frequent stem cell defect in polycythemia vera. Exp Hematol 30 (2002) 229-236
37. Ceesay M.M., Lea N.C., Ingram W., et al. The JAK2 V617F mutation is rare in RARS but common in RARS-T. Leukemia 20 (2006) 2060-2061
38. Remacha A.F., Nomdedeu J.F., Puget G., et al. Occurrence of the JAK2 V617F mutation in the WHO provisional entity: myelodysplastic/myeloproliferative disease, unclassifiable-refractory anemia with ringed sideroblasts associated with marked thrombocytosis. Haematologica 91 (2006) 719-720
39. Szpurka H., Tiu R., Murugesan G., et al. Refractory anemia with ringed sideroblasts associated with marked thrombocytosis (RARS-T), another myeloproliferative condition characterized by JAK2 V617F mutation. Blood 108 (2006) 2173-2181
40. Greiner T.C. Diagnostic assays for the JAK2 V617F mutation in chronic myeloproliferative disorders. Am J Clin Pathol 125 (2006) 651-653
41. James C. The JAK2V617F mutation in polycythemia vera and other myeloproliferative disorders: one mutation for three diseases?. Hematology Am Soc Hematol Educ Program (2008) 69-75
42. Campbell P.J., Baxter E.J., Beer P.A., et al. Mutation of JAK2 in the myeloproliferative disorders: timing, clonality studies, cytogenetic associations, and role in leukemic transformation. Blood 108 (2006) 3548-3555
43. Kralovics R., Teo S.S., 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 108 (2006) 1377-1380
44. 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 108 (2006) 346-352
45. James C., Mazurier F., Dupont S., et al. The hematopoietic stem cell compartment of JAK2V617F-positive myeloproliferative disorders is a reflection of disease heterogeneity. Blood 112 (2008) 2429-2438
46. Xu X., Zhang Q., Luo J., et al. JAK2(V617F): prevalence in a large Chinese hospital population. Blood 109 (2007) 339-342
47. Scott L.M., Tong W., Levine R.L., et al. JAK2 exon 12 mutations in polycythemia vera and idiopathic erythrocytosis. N Engl J Med 356 (2007) 459-468
48. Mesa R.A., Verstovsek S., Cervantes F., et al. Primary myelofibrosis (PMF), post polycythemia vera myelofibrosis (post-PV MF), post essential thrombocythemia myelofibrosis (post-ET MF), blast phase PMF (PMF-BP): consensus on terminology by the international working group for myelofibrosis research and treatment (IWG-MRT). Leuk Res 31 (2007) 737-740
49. Silverstein M.N. Agnogenic myeloid metaplasia (1975), Publishing Science Group, Acton (MA)
50. Pardanani A.D., Levine R.L., Lasho T., et al. MPL515 mutations in myeloproliferative and other myeloid disorders: a study of 1182 patients. Blood 108 (2006) 3472-3476
51. Reilly J.T., Snowden J.A., Spearing R.L., et al. Cytogenetic abnormalities and their prognostic significance in idiopathic myelofibrosis: a study of 106 cases. Br J Haematol 98 (1997) 96-102
52. Foucar K. Bone marrow pathology. 2nd edition (2001), ASCP Press, Chicago
53. Campbell P.J., Scott L.M., 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 366 (2005) 1945-1953
54. Carobbio A., Antonioli E., Guglielmelli P., et al. Leukocytosis and risk stratification assessment in essential thrombocythemia. J Clin Oncol 26 (2008) 2732-2736
55. Thiele J., Kvasnicka H.M., Schmitt-Graeff A., et al. Follow-up examinations including sequential bone marrow biopsies in essential thrombocythemia (ET): a retrospective clinicopathological study of 120 patients. Am J Hematol 70 (2002) 283-291
56. Thiele J., Kvasnicka H.M., Zankovich R., et al. Relevance of bone marrow features in the differential diagnosis between essential thrombocythemia and early stage idiopathic myelofibrosis. Haematologica 85 (2000) 1126-1134
57. Spivak J.L., and Silver R.T. The revised World Health Organization diagnostic criteria for polycythemia vera, essential thrombocytosis, and primary myelofibrosis: an alternative proposal. Blood 112 (2008) 231-239
58. Wilkins B.S., Erber W.N., Bareford D., et al. Bone marrow pathology in essential thrombocythemia: interobserver reliability and utility for identifying disease subtypes. Blood 111 (2008) 60-70
59. Tefferi A., and Pardanani A. Clinical, genetic, and therapeutic insights into systemic mast cell disease. Curr Opin Hematol 11 (2004) 58-64
60. Standen G.R., Steers F.J., and Jones L. Clonality of chronic neutrophilic leukaemia associated with myeloma: analysis using the X-linked probe M27 beta. J Clin Pathol 46 (1993) 297-298