Myeloid blastic transformation of myeloproliferative neoplasms-A review of 112 cases

Leukemia Research

Volumn 35, Issue 5, 2011, Pages 608-613

  Noor, Syed J ^a   Tan, Wei ^a   Wilding, Gregory E ^a   Ford, Laurie A ^a   Barcos, Maurice ^a   Sait, Sheila N J ^a   Block, AnneMarie W ^a   Thompson, James E ^a   Wang, Eunice S ^a   Wetzler, Meir ^a  

^a ROSWELL PARK CANCER INSTITUTE   (United States)

Author keywords

Acute myeloid leukemia; Blastic transformation; Myeloproliferative neoplasms

Indexed keywords

ANTHRACYCLINE; CYTARABINE; DAUNORUBICIN; ERYTHROPOIETIN; HYDROXYUREA;

ACUTE GRANULOCYTIC LEUKEMIA; ADULT; ALLOTRANSPLANTATION; ARTICLE; BLAST TRANSFORMATION; COHORT ANALYSIS; CONTROLLED STUDY; CYTOGENETICS; FEMALE; HUMAN; KARYOTYPE; MAJOR CLINICAL STUDY; MALE; MYELOFIBROSIS; MYELOPROLIFERATIVE DISORDER; OUTCOME ASSESSMENT; OVERALL SURVIVAL; POLYCYTHEMIA VERA; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; THROMBOCYTOPENIA;

ADOLESCENT; ADULT; CELL TRANSFORMATION, NEOPLASTIC; CHILD; CHILD, PRESCHOOL; CYTOGENETIC ANALYSIS; DISEASE PROGRESSION; FEMALE; HUMANS; MALE; MIDDLE AGED; MYELOPROLIFERATIVE DISORDERS; NEOPLASMS; YOUNG ADULT;

EID: 79954571305     PISSN: 01452126     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.leukres.2010.07.031     Document Type: Article

References (61)

1. Anastasi J. The myeloproliferative neoplasms: insights into molecular pathogenesis and changes in WHO classification and criteria for diagnosis. Hematol Oncol Clin North Am 2009, 23:693-708.
2. Passamonti F., Rumi E., Arcaini L., Castagnola C., Lunghi M., Bernasconi P., et al. Leukemic transformation of polycythemia vera: a single center study of 23 patients. Cancer 2005, 104:1032-1036.
3. Cervantes F., Tassies D., Salgado C., Rovira M., Pereira A., Rozman C. Acute transformation in nonleukemic chronic myeloproliferative disorders: actuarial probability and main characteristics in a series of 218 patients. Acta Haematol 1991, 85:124-127.
4. Mesa R.A., Li C.Y., Ketterling R.P., Schroeder G.S., Knudson R.A., Tefferi A. Leukemic transformation in myelofibrosis with myeloid metaplasia: a single-institution experience with 91 cases. Blood 2005, 105:973-977.
5. Baxter E.J., Scott L.M., Campbell P.J., East C., Fourouclas N., Swanton S., et al. Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. Lancet 2005, 365:1054-1061.
6. James C., Ugo V., Le Couedic J.P., Staerk J., Delhommeau F., Lacout C., et al. A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera. Nature 2005, 434:1144-1148.
7. Kralovics R., Passamonti F., Buser A.S., Teo S.S., Tiedt R., Passweg J.R., et al. A gain-of-function mutation of JAK2 in myeloproliferative disorders. N Engl J Med 2005, 352:1779-1790.
8. Levine R.L., Wadleigh M., Cools J., Ebert B.L., Wernig G., Huntly B.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.
9. Lacout C., Pisani D.F., Tulliez M., Gachelin F.M., Vainchenker W., Villeval J.L. JAK2V617F expression in murine hematopoietic cells leads to MPD mimicking human PV with secondary myelofibrosis. Blood 2006, 108:1652-1660.
10. Wernig G., Mercher T., Okabe R., Levine R.L., Lee B.H., Gilliland D.G. Expression of Jak2V617F causes a polycythemia vera-like disease with associated myelofibrosis in a murine bone marrow transplant model. Blood 2006, 107:4274-4281.
11. Garber K. JAK2 inhibitors: not the next imatinib but researchers see other possibilities. J Natl Cancer Inst 2009, 101:980-982.
12. Jelinek J., Oki Y., Gharibyan V., Bueso-Ramos C., Prchal J.T., Verstovsek S., 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, 106:3370-3373.
13. Campbell P.J., Baxter E.J., Beer P.A., Scott L.M., Bench A.J., Huntly B.J., et al. Mutation of JAK2 in the myeloproliferative disorders: timing, clonality studies, cytogenetic associations, and role in leukemic transformation. Blood 2006, 108:3548-3555.
14. Schnittger S., Bacher U., Kern W., Haferlach T., Haferlach C. JAK2V617F as progression marker in CMPD and as cooperative mutation in AML with trisomy 8 and t(8;21): a comparative study on 1103 CMPD and 269 AML cases. Leukemia 2007, 21:1843-1845.
15. Hsiao H.H., Yang W.C., Liu Y.C., Lee C.P., Lin S.F. Disappearance of JAK2 V617F mutation in a rapid leukemic transformed essential thrombocythemia patient. Leuk Res 2008, 32:1323-1324.
16. Tam C.S., Nussenzveig R.M., Popat U., Bueso-Ramos C.E., Thomas D.A., Cortes J.A., et al. The natural history and treatment outcome of blast phase BCR-ABL-myeloproliferative neoplasms. Blood 2008, 112:1628-1637.
17. Mercher T., Wernig G., Moore S.A., Levine R.L., Gu T.L., Frohling S., et al. JAK2T875N is a novel activating mutation that results in myeloproliferative disease with features of megakaryoblastic leukemia in a murine bone marrow transplantation model. Blood 2006, 108:2770-2779.
18. Pikman Y., Lee B.H., Mercher T., McDowell E., Ebert B.L., Gozo M., et al. MPLW515L is a novel somatic activating mutation in myelofibrosis with myeloid metaplasia. PLoS Med 2006, 3:e270.
19. Finazzi G., Caruso V., Marchioli R., Capnist G., Chisesi T., Finelli C., et al. Acute leukemia in polycythemia vera: an analysis of 1638 patients enrolled in a prospective observational study. Blood 2005, 105:2664-2670.
20. Mesa R.A., Verstovsek S., Cervantes F., Barosi G., Reilly J.T., Dupriez B., 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 2007, 31:737-740.
21. Cheson B.D., Bennett J.M., Kopecky K.J., Buchner T., Willman C.L., Estey E.H., et al. Revised recommendations of the international working group for diagnosis, standardization of response criteria, treatment outcomes, and reporting standards for therapeutic trials in acute myeloid leukemia. J Clin Oncol 2003, 21:4642-4649.
22. Drake A.S., Brady M.T., Wang X.H., Sait S.J., Earp J.C., Ghoshal Gupta S., et al. Targeting 11q23 positive acute leukemia cells with high molecular weight-melanoma associated antigen-specific monoclonal antibodies. Cancer Immunol Immunother 2009, 58:415-427.
23. Chun K., Hagemeijer A., Iqbal A., Slovak M.L. Implementation of standardized international karyotype scoring practices is needed to provide uniform and systematic evaluation for patients with myelodysplastic syndrome using IPSS criteria: an international working group on MDS cytogenetics study. Leuk Res 2010, 34:160-165.
24. Berger R., Bernheim A., Flandrin G., Dresch C., Najean Y. Cytogenetic studies on acute nonlymphocytic leukemias following polycythemia vera. Cancer Genet Cytogenet 1984, 11:441-451.
25. Swolin B., Weinfeld A., Westin J. Trisomy 1q in polycythemia vera and its relation to disease transition. Am J Hematol 1986, 22:155-167.
26. Akahoshi M., Oshimi K., Mizoguchi H., Okada M., Enomoto Y., Watanabe Y. Myeloproliferative disorders terminating in acute megakaryoblastic leukemia with chromosome 3q26 abnormality. Cancer 1987, 60:2654-2661.
27. Nakamura H., Sadamori N., Yamada Y., Yao E., Tagawa M., Nishino K., et al. Isochromosome 17q in a case of myelofibrosis with myeloid metaplasia terminating in blastic transformation. Cancer Genet Cytogenet 1987, 24:221-224.
28. Przepiorka D., Bryant E., Kidd P. Idiopathic myelofibrosis in blast transformation with 4;12 and 5;12 translocations and a 7q deletion. Cancer Genet Cytogenet 1988, 30:139-144.
29. Kimura A., Fujimoto T., Inada T., Imamura N., Oguma N., Kajihara H., et al. Blastic transformation in essential thrombocythemia. In vitro differentiation of blast cells into granulocytic, erythroid, and megakaryocytic lineages. Cancer 1990, 65:1538-1544.
30. Wang J.K., Lin D.T., Hsieh H.C., Chuu W.M., Wang C.H., Lin K.S. Primary myelofibrosis in children: report of 4 cases. J Formos Med Assoc 1990, 89:719-723.
31. Miyoshi Y., Okada S., Takizawa Y., Hagiwara S., Mori H., Niikura H., et al. Acute megakaryoblastic leukemia developing 11 years after diagnosis of essential thrombocythemia. Rinsho Ketsueki 1991, 32:868-873.
32. Emilia G., Sacchi S., Temperani P., Longo R., Vecchi A. Progression of essential thrombocythemia to blastic crisis via idiopathic myelofibrosis. Leuk Lymphoma 1993, 9:423-426.
33. Tasaka T., Nagai M., Murao S., Yamaguchi M., Kitanaka A., Sasaki K., et al. CD7, CD34-positive stem cell leukemia arising in agnogenic myeloid metaplasia. Am J Hematol 1993, 44:53-57.
34. Shibata K., Shimamoto Y., Suga K., Sano M., Matsuzaki M., Yamaguchi M. Essential thrombocythemia terminating in acute leukemia with minimal myeloid differentiation-a brief review of recent literature. Acta Haematol 1994, 91:84-88.
35. Ferrara F., Vicari L., Festa B., Di Noto R., Pane F., Sebastio L., et al. Trisomy 13 in a case of myelofibrosis with myeloid metaplasia with early blastic transformation. Haematologica 1995, 80:434-436.
36. Kimura A., Kawaishi K., Nakata Y., Hyodo H., Kuramoto A., Satow Y. Leukemic transformation of primary myelofibrosis: immunophenotype, genotype and growth characteristics of blast cells. Leuk Lymphoma 1995, 19:493-498.
37. Uesugi Y., Toba K., Nikkuni K., Fuse I., Koike T., Shibata A. Essential thrombocythemia in transformation to smouldering megakaryoblastic leukemia with myelofibrosis. Rinsho Ketsueki 1995, 36:1210-1216.
38. Kumar S., Mow B.M., Kaufmann S.H. Hypercalcemia complicating leukemic transformation of agnogenic myeloid metaplasia-myelofibrosis. Mayo Clin Proc 1999, 74:1233-1237.
39. Tabata M., Imagawa S., Tarumoto T., Ohmine K., Hatake K., Miura Y., et al. Essential thrombocythemia transformed to acute myelogenous leukemia with t(3;17)(p24; q12), del(5)(q13q34) after treatment with carboquone and hydroxyurea. Jpn J Clin Oncol 2000, 30:310-312.
40. Andrieux J., Demory J.L., Morel P., Plantier I., Dupriez B., Caulier M.T., et al. Frequency of structural abnormalities of the long arm of chromosome 12 in myelofibrosis with myeloid metaplasia. Cancer Genet Cytogenet 2002, 137:68-71.
41. Hirose Y., Masaki Y., Sugai S. Leukemic transformation with trisomy 8 in essential thrombocythemia: a report of four cases. Eur J Haematol 2002, 68:112-116.
42. Paolini R., Bonaldi L., Bianchini E., Ramazzina E., Cella G. Spontaneous evolution of essential thrombocythaemia into acute megakaryoblastic leukaemia with trisomy 8, trisomy 21 and cutaneous involvement. Eur J Haematol 2003, 71:466-469.
43. Kreft A., Burg J., Fischer T., Kirkpatrick C.J. Essential thrombocythemia terminating in pure erythroleukemia. Am J Hematol 2004, 77:140-143.
44. Chim C.S., Kwong Y.L., Lie A.K., Ma S.K., Chan C.C., Wong L.G., et al. Long-term outcome of 231 patients with essential thrombocythemia: prognostic factors for thrombosis, bleeding, myelofibrosis, and leukemia. Arch Intern Med 2005, 165:2651-2658.
45. Hsiao H.H., Ito Y., Sashida G., Ohyashiki J.H., Ohyashiki K. De novo appearance of der(1;7)(q10;p10) is associated with leukemic transformation and unfavorable prognosis in essential thrombocythemia. Leukemia Res 2005, 29:1247-1252.
46. Toubai T., Tanaka J., Higa T., Ota S., Ibata M., Shono Y., et al. Long-term follow-up of a patient with idiopathic myelofibrosis associated with chromosome 11 and 13 abnormalities. Am J Hematol 2005, 78:67-70.
47. Pasqualucci L., Li S., Meloni G., Schnittger S., Gattenlohner S., Liso A., et al. NPM1-mutated acute myeloid leukaemia occurring in JAK2-V617F+ primary myelofibrosis: de-novo origin?. Leukemia 2008, 22:1459-1463.
48. Swolin B., Rodjer S., Westin J. Therapy-related patterns of cytogenetic abnormalities in acute myeloid leukemia and myelodysplastic syndrome post polycythemia vera: single center experience and review of literature. Ann Hematol 2008, 87:467-474.
49. Villalon C., Talavera M., Sordo M.T., Garcia-Sagredo J.M., Lopez J., San Roman C., et al. Association of inv(3)(q21q26) with essential thrombocythemia in transformation. Cancer Genet Cytogenet 2008, 184:122-123.
50. Wu Y.Y., Hung H.M., Chen T.S., Chao T.Y., Ho C.L. Decreased JAK2 V617F allele burden level in a myelofibrosis with myeloid metaplasia patient with leukemic transformation. Leukemia Res 2008, 32:1783-1786.
51. Berk P.D., Goldberg J.D., Silverstein M.N., Weinfeld A., Donovan P.B., Ellis J.T., et al. Increased incidence of acute leukemia in polycythemia vera associated with chlorambucil therapy. N Engl J Med 1981, 304:441-447.
52. Fabris F., Randi M.L. Essential thrombocythemia: past and present. Intern Emerg Med 2009, 4:381-388.
53. Gangat N., Wolanskyj A.P., McClure R.F., Li C.Y., Schwager S., Wu W., et al. Risk stratification for survival and leukemic transformation in essential thrombocythemia: a single institutional study of 605 patients. Leukemia 2007, 21:270-276.
54. Barbui T. The leukemia controversy in myeloproliferative disorders: is it a natural progression of disease, a secondary sequela of therapy, or a combination of both?. Semin Hematol 2004, 41:15-17.
55. Tam C.S., Kantarjian H., Cortes J., Lynn A., Pierce S., Zhou L., et al. Dynamic model for predicting death within 12 months in patients with primary or post-polycythemia vera/essential thrombocythemia myelofibrosis. J Clin Oncol 2009, 27:5587-5593.
56. Passamonti F., Cervantes F., Vannucchi A.M., Morra E., Rumi E., Pereira A., et al. A dynamic prognostic model to predict survival in primary myelofibrosis: a study by the IWG-MRT (International Working Group for Myeloproliferative Neoplasms Research and Treatment). Blood 2010, 115:1703-1708.
57. Abdel-Wahab O., Manshouri T., Patel J., Harris K., Yao J., Hedvat C., et al. Genetic analysis of transforming events that convert chronic myeloproliferative neoplasms to leukemias. Cancer Res 2010, 70:447-452.
58. Ravandi F., Verstovsek S., Estrov Z., Burger J.A., George S., Bivins C., et al. Significant activity of the JAK2 inhibitor, INCB018424 in patients with secondary, post-myeloproliferative disorder (MPD) acute myeloid leukemia (sAML): results of an exploratory phase II study. Blood 2009, 114:631.
59. Benekli M., Baumann H., Wetzler M. Targeting signal transducer and activator of transcription signaling pathway in leukemias. J Clin Oncol 2009, 27:4422-4432.
60. Hussein K., Van Dyke D.L., Tefferi A. Conventional cytogenetics in myelofibrosis: literature review and discussion. Eur J Haematol 2009, 82:329-338.
61. Caramazza D., Hussein K., Siragusa S., Pardanani A., Knudson R.A., Ketterling R.P., et al. Chromosome 1 abnormalities in myeloid malignancies: a literature survey and karyotype-phenotype associations. Eur J Haematol 2010, 84:191-200.