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P. Valent et al.
years, several different pre-CMML conditions and sub- variants of CMML have been defined. In the current arti- cle, we propose minimal diagnostic criteria for classical CMML and for special CMML variants. These criteria should help in the diagnosis of pre-CMML conditions, classical CMML, special CMML variants, and conditions that mimick CMML. In addition, we propose standards and tools for the diagnosis, prognostication and manage- ment of CMML. Contemporary assays define all major histopathological, molecular, cytogenetic and flow cytometry-based features of neoplastic cells, and thereby cover all CMML variants, including oligomonocytic CMML and CMML associated with certain drivers or a concomitant myeloid neoplasm, such as mastocytosis. Different aberration profiles may also be found, resulting in a quite heterogeneous clinical picture and a variable clinical course. Although the course is often unpre-
dictable, initial grading and consecutive application of CMML-directed prognostic scores are standard tools that support the prognostication of patients with CMML con- cerning survival and AML evolution. The application of criteria, tools and standards proposed herein should assist in the diagnosis, prognostication and management of patients with CMML.
Acknowledgments
We thank Sabine Sonnleitner, Sophia Rammler, Susanne Gamperl, Emir Hadzijusofovic and all other members of Peter Valent’s research group involved for their excellent support in the organization of the Working Conference. This study was sup- ported by Austrian Science Fund (FWF) grants F4701-B20 and F4704-B20, the Ludwig Boltzmann Institute for Hematology and Oncology (LBI HO) and a Stem Cell Research grant from the Medical University of Vienna.
References
1. Storniolo AM, Moloney WC, Rosenthal DS, Cox C, Bennett JM. Chronic myelomono- cytic leukemia. Leukemia. 1990;4(11):766- 770.
2. 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 (4):746-754.
3. Bennett JM. Chronic myelomonocytic leukemia. Curr Treat Options Oncol. 2002;3(3):221-223.
4. Patnaik MM, Parikh SA, Hanson CA, Tefferi A. Chronic myelomonocytic leukaemia: a concise clinical and pathophysiological review. Br J Haematol. 2014;165(3):273-286.
5. Itzykson R, Duchmann M, Lucas N, Solary E. CMML: clinical and molecular aspects. Int J Hematol. 2017;105(6):711-719.
6. Sperr WR, Horny HP, Lechner K, Valent P. Clinical and biologic diversity of leukemias occurring in patients with mastocytosis. Leuk Lymphoma. 2000;37(5-6):473-486.
7. Sotlar K, Fridrich C, Mall A, et al. Detection of c-kit point mutation Asp-816 --> Val in microdissected pooled single mast cells and leukemic cells in a patient with systemic mastocytosis and concomitant chronic myelomonocytic leukemia. Leuk Res. 2002; 26(11):979-984.
8. Patnaik MM, Rangit Vallapureddy, Lasho TL, et al. A comparison of clinical and molecular characteristics of patients with systemic mastocytosis with chronic myelomonocytic leukemia to CMML alone. Leukemia. 2018;32(8):1850-1856.
9. McCullough KB, Patnaik MM. Chronic myelomonocytic leukemia: a genetic and clinical update. Curr Hematol Malig Rep. 2015;10(3):292-302.
10. Kohlmann A, Grossmann V, Klein HU, et al. Next-generation sequencing technology reveals a characteristic pattern of molecular mutations in 72.8% of chronic myelomono- cytic leukemia by detecting frequent alter- ations in TET2, CBL, RAS, and RUNX1. J Clin Oncol. 2010;28(24):3858-3865.
11. Patnaik MM, Tefferi A. Cytogenetic and molecular abnormalities in chronic myelomonocytic leukemia. Blood Cancer J. 2016;6:e393.
12. Bennett JM, Catovsky D, Daniel MT, et al. Proposals for the classification of the myelodysplastic syndromes. Br J Haematol. 1982;51(2):189-199.
13. Vardiman JW, Imbert M, Pierre R, et al. Chronic myelomonocytic leukemia. In: World Health Organization Classification of Tumours – Pathology & Genetics: Tumours of the Haematopoietic and Lymphoid Tissues: Eds. Jaffe ES, Harris NL, Stein H, Vardiman JW. IARC Press Lyon 2001, pp 49- 52.
14. Orazi A, Bennett JM, Germing U, Brunning RD, Bain B, Thiele J. Chronic myelomono- cytic leukemia. In: WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues: Eds. Swerdlow SH, Campo E, Harris NL, et al. International Agency for Research on Cancer - IARC Press Lyon 2008, pp 76-79.
15. Arber DA, Orazi A, Hasserjian R, et al. The 2016 revision to the World Health Organization classification of myeloid neo- plasms and acute leukemia. Blood. 2016;127(20):2391-2405.
16. Orazi A, Bain B, Bennett JM, et al. Chronic myelomonocytic leukemia. In: WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues: Eds. Swerdlow SH, Campo E, Harris NL, et al. International Agency for Research on Cancer – IARC Press Lyon 2017, pp 82-86.
17. 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.
18. Bennett JM. Changes in the updated 2016: WHO classification of the myelodysplastic syndromes and related myeloid neoplasms. Clin Lymphoma Myeloma Leuk. 2016;16 (11):607-609.
19. Moon Y, Kim MH, Kim HR, et al. The 2016 WHO versus 2008 WHO criteria for the diagnosis of chronic myelomonocytic leukemia. Ann Lab Med. 2018;38(5):481- 483.
20. Bain BJ, Gilliland DG, Horny HP, Vardiman JW. Myeloid and lymphoid neoplasms with
eosinophilia and abnormalities of PDGFRA, PDGFRB or FGFR1. In: WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues: Eds. Swerdlow SH, Campo E, Harris NL, et al. International Agency for Research on Cancer - IARC Press Lyon 2008, pp 68-73.
21. Bain BJ, Horny HP, Arber DA, Tefferi A, Hasserjian RP. Myeloid/lymphoid neo- plasms with eosinophilia and rearrangement of PDGFRA, PDGFRB or FGFR1, or with PCM1-JAK2. In: WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues: Eds. Swerdlow SH, Campo E, Harris NL, et al. International Agency for Research on Cancer – IARC Press Lyon 2017, pp 72-79.
22. Parikh C, Subrahmanyam R, Ren R. Oncogenic NRAS rapidly and efficiently induces CMML- and AML-like diseases in mice. Blood. 2006;108(7):2349-2357.
23. Gelsi-Boyer V, Trouplin V, Adélaïde J, et al. Genome profiling of chronic myelomono- cytic leukemia: frequent alterations of RAS and RUNX1 genes. BMC Cancer. 2008; 8:299.
24. Reinig E, Yang F, Traer E, et al. Targeted next- generation sequencing in myelodysplastic syndrome and chronic myelomonocytic leukemia aids diagnosis in challenging cases and identifies frequent spliceosome muta- tions in transformed acute myeloid leukemia. Am J Clin Pathol. 2016;145(4): 497-506.
25. Benton CB, Nazha A, Pemmaraju N, Garcia- Manero G. Chronic myelomonocytic leukemia: forefront of the field in 2015. Crit Rev Oncol Hematol. 2015;95(2):222-242.
26. Sallman DA, Padron E. Transformation of the clinical management of CMML patients through in-depth molecular characteriza- tion. Clin Lymphoma Myeloma Leuk. 2015;15S:S50-55.
27. Patnaik MM, Tefferi A. Chronic myelomonocytic leukemia: 2016 update on diagnosis, risk stratification, and manage- ment. Am J Hematol. 2016;91(6):631-642.
28. Onida F. Models of prognostication in chronic myelomonocytic leukemia. Curr Hematol Malig Rep. 2017;12(6):513-521.
29. Nazha A, Patnaik MM. Making sense of prognostic models in chronic myelomono- cytic leukemia. Curr Hematol Malig Rep. 2018;13(5):341-347.
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haematologica | 2019; 104(10)