Integrating clinical features and genetic lesions in the risk assessment of patients with chronic myelomonocytic leukemia

Blood

Volumn 128, Issue 10, 2016, Pages 1408-1417

  Elena, Chiara ^a,b   Gallì, Anna ^b   Such, Esperanza ^c   Meggendorfer, Manja ^d   Germing, Ulrich ^e   Rizzo, Ettore ^a   Cervera, Jose ^c   Molteni, Elisabetta ^a   Fasan, Annette ^d   Schuler, Esther ^e   Ambaglio, Ilaria ^b   Lopez Pavia, Maria ^c   Zibellini, Silvia ^b   Kuendgen, Andrea ^e   Travaglino, Erica ^b   Sancho Tello, Reyes ^f   Catricalà, Silvia ^b   Vicente, Ana I ^g   Haferlach, Torsten ^d   Haferlach, Claudia ^d   Sanz, Guillermo F ^c   Malcovati, Luca ^a,b   Cazzola, Mario ^a,b   more..

^a UNIVERSITY OF PAVIA   (Italy)

^b FONDAZIONE IRCCS POLICLINICO SAN MATTEO   (Italy)

^c HOSPITAL UNIVERSITARIO LA FE   (Spain)

^d MLL MUNICH LEUKEMIA LABORATORY   (Germany)

^e UNIVERSITY HOSPITAL DÜSSELDORF   (Germany)

^f HOSPITAL ARNAU DE VILANOVA   (Spain)

^g HOSPITAL DE LA RIBERA   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

ASXL1 PROTEIN; HEMOGLOBIN; NRAS PROTEIN; PROTEIN; SETBP1 PROTEIN; TRANSCRIPTION FACTOR RUNX1; UNCLASSIFIED DRUG; TUMOR MARKER;

ADULT; AGED; ARTICLE; CANCER INCIDENCE; CANCER PATIENT; CANCER PROGNOSIS; CANCER SURVIVAL; CHRONIC MYELOMONOCYTIC LEUKEMIA; CLINICAL DECISION MAKING; CLINICAL FEATURE; CONTROLLED STUDY; DENSITY GRADIENT CENTRIFUGATION; ERYTHROCYTE TRANSFUSION; FEMALE; GENOTYPE; HEMOGLOBIN BLOOD LEVEL; HIGH RISK POPULATION; HUMAN; LEUKOCYTE COUNT; MAJOR CLINICAL STUDY; MALE; OVERALL SURVIVAL; PHENOTYPE; PRIORITY JOURNAL; RISK ASSESSMENT; SOMATIC MUTATION; THROMBOCYTE COUNT; CANCER GRADING; CHROMOSOME ABERRATION; COHORT ANALYSIS; FOLLOW UP; GENETICS; MIDDLE AGED; MUTATION; PATHOLOGY; PROCEDURES; PROGNOSIS; RISK FACTOR; SURVIVAL RATE; VERY ELDERLY; YOUNG ADULT;

ADULT; AGED; AGED, 80 AND OVER; BIOMARKERS, TUMOR; CHROMOSOME ABERRATIONS; CLINICAL DECISION-MAKING; COHORT STUDIES; FEMALE; FOLLOW-UP STUDIES; HUMANS; LEUKEMIA, MYELOMONOCYTIC, CHRONIC; MALE; MIDDLE AGED; MUTATION; NEOPLASM GRADING; PHENOTYPE; PROGNOSIS; RISK ASSESSMENT; RISK FACTORS; SURVIVAL RATE; YOUNG ADULT;

EID: 84994018463     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2016-05-714030     Document Type: Article

References (44)

1. Vardiman JW, Brunning R, Arber DA, et al. Introduction and overview of the classification of the myeloid neoplasms. In: Swerdlow SHCE, Harris NL, Jaffe ES, et al, eds. WHO Classification of Tumors Of Haematopoietic and Lymphoid Tissues. Lyon, France: IARC; 2008:18-30.
2. Cazzola M, Malcovati L, Invernizzi R. Myelodysplastic/myeloproliferative neoplasms. Hematology Am Soc Hematol Educ Program. 2011;2011:264-272.
3. Bennett JM, Catovsky D, Daniel MT, et al; Proposals by the French-American-British Cooperative Leukaemia Group. The chronic myeloid leukaemias: guidelines for distinguishing chronic granulocytic, atypical chronic myeloid, and chronic myelomonocytic leukaemia. Br J Haematol. 1994;87(4):746-754.
4. Vardiman J, Pierre RV, Bain BJ, et al. Chronic myelomonocytic leukaemia. In: Swerdlow SHCE, Harris NL, Jaffe ES, et al, eds. WHO Classification of Tumors Of Haematopoietic and Lymphoid Tissues. Lyon, France: IARC; 2008:49-52.
5. Arber DA, Orazi A, Hasserjian R, et al. The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia. Blood. 2016;127(20):2391-2405.
6. Germing U, Strupp C, Knipp S, et al. Chronic myelomonocytic leukemia in the light of the WHO proposals. Haematologica. 2007;92(7):974-977.
7. Aul C, Gattermann N, Heyll A, Germing U, Derigs G, Schneider W. Primary myelodysplastic syndromes: analysis of prognostic factors in 235 patients and proposals for an improved scoring system. Leukemia. 1992;6(1):52-59.
8. Worsley A, Oscier DG, Stevens J, et al. Prognostic features of chronic myelomonocytic leukaemia: a modified Bournemouth score gives the best prediction of survival. Br J Haematol. 1988;68(1):17-21.
9. 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(3):840-849.
10. Greenberg P, Cox C, LeBeau MM, et al. International scoring system for evaluating prognosis in myelodysplastic syndromes. Blood. 1997;89(6):2079-2088.
11. Greenberg PL, Tuechler H, Schanz J, et al. Revised international prognostic scoring system for myelodysplastic syndromes. Blood. 2012;120(12):2454-2465.
12. Patnaik MM, Padron E, LaBorde RR, et al. Mayo prognostic model for WHO-defined chronic myelomonocytic leukemia: ASXL1 and spliceosome component mutations and outcomes [published correction appears in Leukemia. 2013;27(10):2112]. Leukemia. 2013;27(7):1504-1510.
13. Such E, Germing U, Malcovati L, et al. Development and validation of a prognostic scoring system for patients with chronic myelomonocytic leukemia. Blood. 2013;121(15):3005-3015.
14. Such E, Cervera J, Costa D, et al. Cytogenetic risk stratification in chronic myelomonocytic leukemia. Haematologica. 2011;96(3):375-383.
15. 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(24):3858-3865.
16. Meggendorfer M, Roller A, Haferlach T, et al. SRSF2 mutations in 275 cases with chronic myelomonocytic leukemia (CMML). Blood. 2012;120(15):3080-3088.
17. Papaemmanuil E, Gerstung M, Malcovati L, et al; Chronic Myeloid Disorders Working Group of the International Cancer Genome Consortium. Clinical and biological implications of driver mutations in myelodysplastic syndromes. Blood. 2013;122(22):3616-3627, quiz 3699.
18. Piazza R, Valletta S, Winkelmann N, et al. Recurrent SETBP1 mutations in atypical chronic myeloid leukemia. Nat Genet. 2013;45(1):18-24.
19. Gambacorti-Passerini CB, Donadoni C, Parmiani A, et al. Recurrent ETNK1 mutations in atypical chronic myeloid leukemia. Blood. 2015;125(3):499-503.
20. Itzykson R, Kosmider O, Renneville A, et al. Prognostic score including gene mutations in chronic myelomonocytic leukemia. J Clin Oncol. 2013;31(19):2428-2436.
21. Maxson JE, Gotlib J, Pollyea DA, et al. Oncogenic CSF3R mutations in chronic neutrophilic leukemia and atypical CML. N Engl J Med. 2013;368(19):1781-1790.
22. Kosmider O, Gelsi-Boyer V, Ciudad M, et al; Groupe Francophone des Myélodysplasies. TET2 gene mutation is a frequent and adverse event in chronic myelomonocytic leukemia. Haematologica. 2009;94(12):1676-1681.
23. Malcovati L, Papaemmanuil E, Ambaglio I, et al. Driver somatic mutations identify distinct disease entities within myeloid neoplasms with myelodysplasia. Blood. 2014;124(9):1513-1521.
24. Itzykson R, Kosmider O, Renneville A, et al. Clonal architecture of chronic myelomonocytic leukemias. Blood. 2013;121(12):2186-2198.
25. Laborde RR, Patnaik MM, Lasho TL, et al. SETBP1 mutations in 415 patients with primary myelofibrosis or chronic myelomonocytic leukemia: independent prognostic impact in CMML. Leukemia. 2013;27(10):2100-2102.
26. Patnaik MM, Itzykson R, Lasho TL, et al. ASXL1 and SETBP1 mutations and their prognostic contribution in chronic myelomonocytic leukemia: a two-center study of 466 patients. Leukemia. 2014;28(11):2206-2212.
27. 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(4):365-375.
28. Damm F, Itzykson R, Kosmider O, et al. SETBP1 mutations in 658 patients with myelodysplastic syndromes, chronic myelomonocytic leukemia and secondary acute myeloid leukemias. Leukemia. 2013;27(6):1401-1403.
29. Goasguen JE, Bennett JM, Bain BJ, Vallespi T, Brunning R, Mufti GJ; International Working Group on Morphology of Myelodysplastic Syndrome. Morphological evaluation of monocytes and their precursors. Haematologica. 2009;94(7):994-997.
30. Mufti GJ, Bennett JM, Goasguen J, et al; International Working Group on Morphology of Myelodysplastic Syndrome. Diagnosis and classification of myelodysplastic syndrome: International Working Group on Morphology of myelodysplastic syndrome (IWGM-MDS) consensus proposals for the definition and enumeration of myeloblasts and ring sideroblasts. Haematologica. 2008;93(11):1712-1717.
31. Malcovati L, Germing U, Kuendgen A, et al. Time-dependent prognostic scoring system for predicting survival and leukemic evolution in myelodysplastic syndromes. J Clin Oncol. 2007;25(23):3503-3510.
32. Malcovati L, Della Porta MG, Strupp C, et al. Impact of the degree of anemia on the outcome of patients with myelodysplastic syndrome and its integration into the WHO classification-based Prognostic Scoring System (WPSS). Haematologica. 2011;96(10):1433-1440.
33. Malcovati L, Della Porta MG, Pietra D, et al. Molecular and clinical features of refractory anemia with ringed sideroblasts associated with marked thrombocytosis. Blood. 2009;114(17):3538-3545.
34. Li H, Durbin R. Fast and accurate long-read alignment with Burrows-Wheeler transform. Bioinformatics. 2010;26(5):589-595.
35. DePristo MA, Banks E, Poplin R, et al. A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nat Genet. 2011;43(5):491-498.
36. Fine J, Gray R. A proportional hazards model for the subdistribution of a competing risk. J Am Stat Assoc. 1999;94(446):496-509.
37. Mughal TI, Cross NC, Padron E, et al. An International MDS/MPN Working Group's perspective and recommendations on molecular pathogenesis, diagnosis and clinical characterization of myelodysplastic/myeloproliferative neoplasms. Haematologica. 2015;100(9):1117-1130.
38. Cervera N, Itzykson R, Coppin E, et al. Gene mutations differently impact the prognosis of the myelodysplastic and myeloproliferative classes of chronic myelomonocytic leukemia. Am J Hematol. 2014;89(6):604-609.
39. Kosmider O, Gelsi-Boyer V, Slama L, et al. Mutations of IDH1 and IDH2 genes in early and accelerated phases of myelodysplastic syndromes and MDS/myeloproliferative neoplasms. Leukemia. 2010;24(5):1094-1096.
40. Bejar R, Stevenson K, Abdel-Wahab O, et al. Clinical effect of point mutations in myelodysplastic syndromes. N Engl J Med. 2011;364(26):2496-2506.
41. Murphy DM, Bejar R, Stevenson K, et al. NRAS mutations with low allele burden have independent prognostic significance for patients with lower risk myelodysplastic syndromes. Leukemia. 2013;27(10):2077-2081.
42. Schuler E, Schroeder M, Neukirchen J, et al. Refined medullary blast and white blood cell count based classification of chronic myelomonocytic leukemias. Leuk Res. 2014;38(12):1413-1419.
43. Padron E, Garcia-Manero G, Patnaik MM, et al. An international data set for CMML validates prognostic scoring systems and demonstrates a need for novel prognostication strategies. Blood Cancer J. 2015;5:e333.
44. Savona MR, Malcovati L, Komrokji R, et al; MDS/MPN International Working Group. An international consortium proposal of uniform response criteria for myelodysplastic/myeloproliferative neoplasms (MDS/MPN) in adults. Blood. 2015;125(12):1857-1865.