Chronic myelomonocytic leukemia: 2012 update on diagnosis, risk stratification, and management

American Journal of Hematology

Volumn 87, Issue 6, 2012, Pages 610-619

  Parikh, Sameer A ^a   Tefferi, Ayalew ^a  

^a MAYO CLINIC   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

5 AZA 2' DEOXYCYTIDINE; AZACITIDINE; CYTARABINE; ETOPOSIDE; HYDROXYUREA; LONAFARNIB; TOPOTECAN; VALPROIC ACID;

ALOPECIA; ANOREXIA; ARTICLE; BONE MARROW SUPPRESSION; CANCER DIAGNOSIS; CANCER EPIDEMIOLOGY; CANCER PROGNOSIS; CANCER RISK; CANCER SURVIVAL; CHROMOSOME 7; CHROMOSOME ABERRATION; CHRONIC MYELOMONOCYTIC LEUKEMIA; CONFLICT OF INTEREST; CONTINUING EDUCATION; CONTINUOUS INFUSION; DIARRHEA; DRUG APPROVAL; DRUG EFFICACY; DRUG SAFETY; FATIGUE; FEBRILE NEUTROPENIA; HUMAN; HYPERTRANSAMINASEMIA; HYPERTRIGLYCERIDEMIA; INDEPENDENT VARIABLE; INFECTIOUS COMPLICATION; LEUKOCYTE COUNT; MEDICAL EDUCATION; MONOCYTOSIS; MUCOSA INFLAMMATION; NAUSEA; NEUROPATHY; NEUTROPENIA; PNEUMONIA; PRIORITY JOURNAL; RASH; THROMBOCYTE COUNT; THROMBOCYTOPENIA; TREATMENT RESPONSE; TRISOMY 8; VOMITING;

AGED; ANTIMETABOLITES, ANTINEOPLASTIC; ANTINEOPLASTIC COMBINED CHEMOTHERAPY PROTOCOLS; AZACITIDINE; BONE MARROW EXAMINATION; CHROMOSOME ABERRATIONS; CLINICAL TRIALS AS TOPIC; COMBINED MODALITY THERAPY; DIAGNOSIS, DIFFERENTIAL; DISEASE MANAGEMENT; FEMALE; GENES, NEOPLASM; HUMANS; LEUKEMIA, MYELOMONOCYTIC, CHRONIC; LEUKOCYTE COUNT; MALE; RISK ASSESSMENT; STEM CELL TRANSPLANTATION; TRANSPLANTATION, HOMOLOGOUS;

EID: 84861349850     PISSN: 03618609     EISSN: 10968652     Source Type: Journal    
DOI: 10.1002/ajh.23203     Document Type: Article

References (77)

1. Vardiman JW, Thiele J, Arber DA, et al. The 2008 revision of the World Health Organization (WHO) classification of myeloid neoplasms and acute leukemia: Rationale and important changes. Blood 2009; 114: 937-951.
2. Bennett JM, Catovsky D, Daniel MT, et al. Proposals for the classification of the myelodysplastic syndromes. Br J Haematol 1982; 51: 189-199.
3. Bennett JM, Catovsky D, Daniel MT, et al. The chronic myeloid leukaemias: Guidelines for distinguishing chronic granulocytic, atypical chronic myeloid, and chronic myelomonocytic leukaemia. Proposals by the French-American-British Cooperative Leukaemia Group. Br J Haematol 1994; 87: 746-754.
4. Michaux JL, Martiat P. Chronic myelomonocytic leukaemia (CMML)-A myelodysplastic or myeloproliferative syndrome? Leuk Lymphoma 1993; 9: 35-41.
5. Germing U, Gattermann N, Minning H, et al. Problems in the classification of CMML-dysplastic versus proliferative type. Leuk Res 1998; 22: 871-878.
6. Onida F, Kantarjian HM, Smith TL, et al. Prognostic factors and scoring systems in chronic myelomonocytic leukemia: A retrospective analysis of 213 patients. Blood 2002; 99: 840-849.
7. Vardiman JW, Harris NL, Brunning RD. The World Health Organization (WHO) classification of the myeloid neoplasms. Blood 2002; 100: 2292-2302.
8. Germing U, Gattermann N, Strupp C, et al. Validation of the WHO proposals for a new classification of primary myelodysplastic syndromes: A retrospective analysis of 1600 patients. Leuk Res 2000; 24: 983-992.
9. Germing U, Strupp C, Knipp S, et al. Chronic myelomonocytic leukemia in the light of the WHO proposals. Haematologica 2007; 92: 974-977.
10. Beran M. Chronic myelomonocytic leukemia. Cancer Treat Res 2008; 142: 107-132.
11. Germing U, Kundgen A, Gattermann N. Risk assessment in chronic myelomonocytic leukemia (CMML). Leuk Lymphoma 2004; 45: 1311-1318.
12. Beran M, Wen S, Shen Y, et al. Prognostic factors and risk assessment in chronic myelomonocytic leukemia: Validation study of the M.D. Anderson Prognostic Scoring System. Leuk Lymphoma 2007; 48: 1150-1160.
13. Bowen DT. Chronic myelomonocytic leukemia: Lost in classification? Hematol Oncol 2005; 23: 26-33.
14. Mathew RA, Bennett JM, Liu JJ, et al. Cutaneous manifestations in CMML: Indication of disease acceleration or transformation to AML and review of the literature. Leuk Res 2012; 36: 72-80.
15. Feger F, Ribadeau Dumas A, Leriche L, et al. Kit and c-kit mutations in mastocytosis: A short overview with special reference to novel molecular and diagnostic concepts. Int Arch Allergy Immunol 2002; 127: 110-114.
16. Sotlar K, Colak S, Bache A, et al. Variable presence of KITD816V in clonal haematological non-mast cell lineage diseases associated with systemic mastocytosis (SM-AHNMD). J Pathol 2010; 220: 586-595.
17. Kim KB, Faderl S, Hwang CS, Khuri FR. Chronic myelomonocytic leukaemia after platinum-based therapy for non-small cell lung cancer: Case report and review of the literature. J Clin Pharm Ther 2006; 31: 401-406.
18. Ahmed F, Osman N, Lucas F, et al. Therapy related CMML: A case report and review of the literature. Int J Hematol 2009; 89: 699-703.
19. Apperley JF, Gardembas M, Melo JV, 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 2002; 347: 481-487.
20. Muramatsu H, Makishima H, Maciejewski JP. Chronic myelomonocytic leukemia and atypical chronic myeloid leukemia: Novel pathogenetic lesions. Semin Oncol 2012; 39: 67-73.
21. Orazi A, Bennet JM, Germing U, Brunning R, Bain B, Thiele J. Chronic myelomonocytic leukaemia. In: Swerdlow S, Campo E, Lee Harris N, Jaffe ES, Pileri SA, Stein H, Thiele J, Vardiman J, editors. WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues. Lyon: IARC Press; 2008. pp 76-79.
22. Orazi A, Chiu R, O'Malley DP, et al. Chronic myelomonocytic leukemia: The role of bone marrow biopsy immunohistology. Mod Pathol 2006; 19: 1536-1545.
23. Bacher U, Haferlach T, Schnittger S, et al. Recent advances in diagnosis, molecular pathology and therapy of chronic myelomonocytic leukaemia. Br J Haematol 2011; 153: 149-167.
24. Bacher U, Haferlach T, Kern W, et al. Conventional cytogenetics of myeloproliferative diseases other than CML contribute valid information. Ann Hematol 2005; 84: 250-257.
25. Haase D, Germing U, Schanz J, et al. New insights into the prognostic impact of the karyotype in MDS and correlation with subtypes: Evidence from a core dataset of 2124 patients. Blood 2007; 110: 4385-4395.
26. Kohlmann A, Grossmann V, Klein HU, et al. Next-generation sequencing technology reveals a characteristic pattern of molecular mutations in 72.8% of chronic myelomonocytic leukemia by detecting frequent alterations in TET2, CBL, RAS, and RUNX1. J Clin Oncol 2010; 28: 3858-3865.
27. Jankowska AM, Makishima H, Tiu RV, et al. Mutational spectrum analysis of chronic myelomonocytic leukemia includes genes associated with epigenetic regulation: UTX, EZH2, and DNMT3A. Blood 2011; 118: 3932-3941.
28. Grand FH, Hidalgo-Curtis CE, Ernst T, et al. Frequent CBL mutations associated with 11q acquired uniparental disomy in myeloproliferative neoplasms. Blood 2009; 113: 6182-6192.
29. Bacher U, Haferlach T, Kern W, et al. A comparative study of molecular mutations in 381 patients with myelodysplastic syndrome and in 4130 patients with acute myeloid leukemia. Haematologica 2007; 92: 744-752.
30. Gelsi-Boyer V, Trouplin V, Adelaide J, et al. Genome profiling of chronic myelomonocytic leukemia: Frequent alterations of RAS and RUNX1 genes. BMC Cancer 2008; 8: 299.
31. Loh ML, Martinelli S, Cordeddu V, et al. Acquired PTPN11 mutations occur rarely in adult patients with myelodysplastic syndromes and chronic myelomonocytic leukemia. Leuk Res 2005; 29: 459-462.
32. Ricci C, Fermo E, Corti S, et al. RAS mutations contribute to evolution of chronic myelomonocytic leukemia to the proliferative variant. Clin Cancer Res 2010; 16: 2246-2256.
33. Baxter EJ, Scott LM, Campbell PJ, et al. Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. Lancet 2005; 365: 1054-1061.
34. James C, Ugo V, Le Couedic JP, et al. A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera. Nature 2005; 434: 1144-1148.
35. Kralovics R, Passamonti F, Buser AS, et al. A gain-of-function mutation of JAK2 in myeloproliferative disorders. N Engl J Med 2005; 352: 1779-1790.
36. Levine RL, 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.
37. Pich A, Riera L, Sismondi F, et al. JAK2V617F activating mutation is associated with the myeloproliferative type of chronic myelomonocytic leukaemia. J Clin Pathol 2009; 62: 798-801.
38. Makishima H, Cazzolli H, Szpurka H, et al. Mutations of e3 ubiquitin ligase cbl family members constitute a novel common pathogenic lesion in myeloid malignancies. J Clin Oncol 2009; 27: 6109-6116.
39. Gelsi-Boyer V, Trouplin V, Roquain J, et al. ASXL1 mutation is associated with poor prognosis and acute transformation in chronic myelomonocytic leukaemia. Br J Haematol 2010; 151: 365-375.
40. Kuo MC, Liang DC, Huang CF, et al. RUNX1 mutations are frequent in chronic myelomonocytic leukemia and mutations at the C-terminal region might predict acute myeloid leukemia transformation. Leukemia 2009; 23: 1426-1431.
41. Abdel-Wahab O, Pardanani A, Patel J, et al. Concomitant analysis of EZH2 and ASXL1 mutations in myelofibrosis, chronic myelomonocytic leukemia and blast-phase myeloproliferative neoplasms. Leukemia 2011; 25: 1200-1202.
42. Grossmann V, Kohlmann A, Eder C, et al. Molecular profiling of chronic myelomonocytic leukemia reveals diverse mutations in >80% of patients with TET2 and EZH2 being of high prognostic relevance. Leukemia 2011; 25: 877-879.
43. Ernst T, Chase A, Zoi K, et al. Transcription factor mutations in myelodysplastic/myeloproliferative neoplasms. Haematologica 2010; 95: 1473-1480.
44. Tefferi A, Lim KH, Abdel-Wahab O, et al. Detection of mutant TET2 in myeloid malignancies other than myeloproliferative neoplasms: CMML, MDS, MDS/MPN and AML. Leukemia 2009; 23: 1343-1345.
45. Jankowska AM, Szpurka H, Tiu RV, et al. Loss of heterozygosity 4q24 and TET2 mutations associated with myelodysplastic/myeloproliferative neoplasms. Blood 2009; 113: 6403-6410.
46. Greenberg P, Cox C, LeBeau MM, et al. International scoring system for evaluating prognosis in myelodysplastic syndromes. Blood 1997; 89: 2079-2088.
47. Germing U, Strupp C, Aivado M, Gattermann N. New prognostic parameters for chronic myelomonocytic leukemia. Blood 2002; 100: 731-732; author reply 732-733.
48. Breccia M, Latagliata R, Mengarelli A, et al. Prognostic factors in myelodysplastic and myeloproliferative types of chronic myelomonocytic leukemia: A retrospective analysis of 83 patients from a single institution. Haematologica 2004; 89: 866-868.
49. Such E, Cervera J, Costa D, et al. Cytogenetic risk stratification in chronic myelomonocytic leukemia. Haematologica 2011; 96: 375-383.
50. Nosslinger T, Reisner R, Gruner H, et al. Dysplastic versus proliferative CMML-a retrospective analysis of 91 patients from a single institution. Leuk Res 2001; 25: 741-747.
51. Wattel E, Guerci A, Hecquet B, et al. A randomized trial of hydroxyurea versus VP16 in adult chronic myelomonocytic leukemia. Groupe Francais des Myelodysplasies and European CMML Group. Blood 1996; 88: 2480-2487.
52. Beran M, Estey E, O'Brien SM, et al. Results of topotecan single-agent therapy in patients with myelodysplastic syndromes and chronic myelomonocytic leukemia. Leuk Lymphoma 1998; 31: 521-531.
53. Beran M, Estey E, O'Brien S, et al. Topotecan and cytarabine is an active combination regimen in myelodysplastic syndromes and chronic myelomonocytic leukemia. J Clin Oncol 1999; 17: 2819-2830.
54. Quintas-Cardama A, Kantarjian H, O'Brien S, et al. Activity of 9-nitro-camptothecin, an oral topoisomerase I inhibitor, in myelodysplastic syndrome and chronic myelomonocytic leukemia. Cancer 2006; 107: 1525-1529.
55. Silverman LR, Demakos EP, Peterson BL, et al. Randomized controlled trial of azacitidine in patients with the myelodysplastic syndrome: A study of the cancer and leukemia group B. J Clin Oncol 2002; 20: 2429-2440.
56. Kantarjian H, Issa JP, Rosenfeld CS, et al. Decitabine improves patient outcomes in myelodysplastic syndromes: Results of a phase III randomized study. Cancer 2006; 106: 1794-1803.
57. Aribi A, Borthakur G, Ravandi F, et al. Activity of decitabine, a hypomethylating agent, in chronic myelomonocytic leukemia. Cancer 2007; 109: 713-717.
58. Wijermans PW, Ruter B, Baer MR, et al. Efficacy of decitabine in the treatment of patients with chronic myelomonocytic leukemia (CMML). Leuk Res 2008; 32: 587-591.
59. Costa R, Abdulhaq H, Haq B, et al. Activity of azacitidine in chronic myelomonocytic leukemia. Cancer 2011; 117: 2690-2696.
60. Garcia-Manero G, Gore SD, Cogle C, et al. Phase I study of oral azacitidine in myelodysplastic syndromes, chronic myelomonocytic leukemia, and acute myeloid leukemia. J Clin Oncol 2011; 29: 2521-2527.
61. Braun T, Itzykson R, Renneville A, et al. Molecular predictors of response to decitabine in advanced chronic myelomonocytic leukemia: A phase 2 trial. Blood 2011; 118: 3824-3831.
62. Siitonen T, Timonen T, Juvonen E, et al. Valproic acid combined with 13-cis retinoic acid and 1, 25-dihydroxyvitamin D3 in the treatment of patients with myelodysplastic syndromes. Haematologica 2007; 92: 1119-1122.
63. Feldman EJ, Cortes J, DeAngelo DJ, et al. On the use of lonafarnib in myelodysplastic syndrome and chronic myelomonocytic leukemia. Leukemia 2008; 22: 1707-1711.
64. Cheson BD, Bennett JM, Kantarjian H, et al. Report of an international working group to standardize response criteria for myelodysplastic syndromes. Blood 2000; 96: 3671-3674.
65. Cambier N, Wattel E, Menot ML, et al. All-trans retinoic acid in adult chronic myelomonocytic leukemia: Results of a pilot study. Leukemia 1996; 10: 1164-1167.
66. Gerhartz HH, Marcus R, Delmer A, et al. A randomized phase II study of low-dose cytosine arabinoside (LD-AraC) plus granulocyte-macrophage colony-stimulating factor (rhGM-CSF) in myelodysplastic syndromes (MDS) with a high risk of developing leukemia. EORTC Leukemia Cooperative Group. Leukemia 1994; 8: 16-23.
67. Venditti A, Tamburini A, Buccisano F, et al. A phase-II trial of all trans retinoic acid and low-dose cytosine arabinoside for the treatment of high-risk myelodysplastic syndromes. Ann Hematol 2000; 79: 138-142.
68. Garcia-Manero G. Myelodysplastic syndromes: 2011 update on diagnosis, risk-stratification, and management. Am J Hematol 2011; 86: 490-498.
69. www.clinicaltrials.gov stC, last accessed February 29, 2012.
70. Symeonidis A, Van Biezen A, Mufti G, et al. Allogeneic stem cell transplantation in patients with chronic myelomonocytic leukaemia: The impact of WHO classification and of the conditioning regimen on the transplantation outcome. Annual Meeting of the EBMT 2010. Bone Marrow Transplant 2010; 45(S241, Abstract P803).
71. Eissa H, Gooley TA, Sorror ML, et al. Allogeneic hematopoietic cell transplantation for chronic myelomonocytic leukemia: Relapse-free survival is determined by karyotype and comorbidities. Biol Blood Marrow Transplant 2011; 17: 908-915.
72. Kroger N, Zabelina T, Guardiola P, et al. Allogeneic stem cell transplantation of adult chronic myelomonocytic leukaemia. A report on behalf of the Chronic Leukaemia Working Party of the European Group for Blood and Marrow Transplantation (EBMT). Br J Haematol 2002; 118: 67-73.
73. Mittal P, Saliba RM, Giralt SA, et al. Allogeneic transplantation: A therapeutic option for myelofibrosis, chronic myelomonocytic leukemia and Philadelphia-negative/BCR-ABL-negative chronic myelogenous leukemia. Bone Marrow Transplant 2004; 33: 1005-1009.
74. Elliott MA, Tefferi A, Hogan WJ, et al. Allogeneic stem cell transplantation and donor lymphocyte infusions for chronic myelomonocytic leukemia. Bone Marrow Transplant 2006; 37: 1003-1008.
75. Ocheni S, Kroger N, Zabelina T, et al. Outcome of allo-SCT for chronic myelomonocytic leukemia. Bone Marrow Transplant 2009; 43: 659-661.
76. Krishnamurthy P, Lim ZY, Nagi W, et al. Allogeneic haematopoietic SCT for chronic myelomonocytic leukaemia: A single-centre experience. Bone Marrow Transplant 2010; 45: 1502-1507.
77. Cheng H, Kirtani VG, Gergis U. Current status of allogeneic HST for chronic myelomonocytic leukemia. Bone Marrow Transplant 2012; 47: 535-541.