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Myelodysplastic/Myeloproliferative Neoplasms

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Practical Lymph Node and Bone Marrow Pathology

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Abstract

The myelodysplastic/myeloproliferative neoplasms (MDS/MPN) are a group of clonal myeloid neoplasms that have some clinical, laboratory, and morphologic features that support the diagnosis of a myelodysplastic syndrome (MDS) and other clinical, laboratory, and morphologic features that support the diagnosis of a myeloproliferative neoplasm (MPN), at the time of initial encounter with the patient. The MDS features may include persistent cytopenia(s) and dysplasia involving one or more of the myeloid lineages, whereas the MPN features often include leukocytosis due to neutrophilia and/or monocytosis and/or thrombocytosis. Splenomegaly and hepatomegaly are often present as well. In most cases of MDS/MPN, the bone marrow specimens are hypercellular due to proliferation of at least one of the myeloid lineages, and often the proliferation is effective in at least one cell line, resulting in leukocytosis or thrombocytosis in the peripheral blood. Patients who have a preexisting MPN and later develop MDS-like features are excluded from this category; the MDS-related features may well represent disease progression and transformation in such cases. The dual myelodysplastic and proliferative features of MDS/MPN cases define their pathophysiological uniqueness and may cause diagnostic and therapeutic challenges in clinical settings. This chapter provides the current (2016 WHO) information and practical guidelines for the diagnosis and classification of MDS/MPN. A body of related literatures and representative pictures of MDS/MPN and its mimics are also included.

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References

  1. Hyjek E, Vardiman JW. Myelodysplastic/myeloproliferative neoplasms. Semin Diagn Pathol. 2011;28(4):283–97.

    Article  PubMed  Google Scholar 

  2. Vardiman JW, Thiele J, Arber DA, Brunning RD, Borowitz MJ, Porwit A, 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(5):937–51.

    Article  CAS  PubMed  Google Scholar 

  3. Orazi A, Germing U. The myelodysplastic/myeloproliferative neoplasms: myeloproliferative diseases with dysplastic features. Leukemia. 2008;22(7):1308–19.

    Article  CAS  PubMed  Google Scholar 

  4. Arber DA, Orazi A, Hasserjian R, Thiele J, Borowitz MJ, Le Beau MM, et al. The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia. Blood. 2016;127(20):2391–405.

    Article  CAS  PubMed  Google Scholar 

  5. Bennett JM, Brunning RD, Vardiman JW. Myelodysplastic syndromes: from French-American-British to World Health Organization: a commentary. Blood. 2002;99(8):3074–5.

    Article  CAS  PubMed  Google Scholar 

  6. Vardiman JW. The new World Health Organization classification of myeloid neoplasms: Q&A with James W. Vardiman, MD. Clin Adv Hematol Oncol. 2003;1(1):18–21.

    PubMed  Google Scholar 

  7. Vardiman JW. Myelodysplastic/myeloproliferative diseases. Cancer Treat Res. 2004;121:13–43.

    Article  PubMed  Google Scholar 

  8. Vardiman JW, Harris NL, Brunning RD. The World Health Organization (WHO) classification of the myeloid neoplasms. Blood. 2002;100(7):2292–302.

    Article  CAS  PubMed  Google Scholar 

  9. Bennett JM, Catovsky D, Daniel MT, Flandrin G, Galton DA, Gralnick H, 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):746–54.

    Article  CAS  PubMed  Google Scholar 

  10. Germing U, Gattermann N, Minning H, Heyll A, Aul C. Problems in the classification of CMML--dysplastic versus proliferative type. Leuk Res. 1998;22(10):871–8.

    Article  CAS  PubMed  Google Scholar 

  11. Michaux JL, Martiat P. Chronic myelomonocytic leukaemia (CMML)--a myelodysplastic or myeloproliferative syndrome? Leuk Lymphoma. 1993;9(1–2):35–41.

    Article  CAS  PubMed  Google Scholar 

  12. Ngo NT, Lampert IA, Naresh KN. Bone marrow trephine morphology and immunohistochemical findings in chronic myelomonocytic leukaemia. Br J Haematol. 2008;141(6):771–81.

    Article  PubMed  Google Scholar 

  13. Orazi A, Chiu R, O’Malley DP, Czader M, Allen SL, An C, et al. Chronic myelomonocytic leukemia: the role of bone marrow biopsy immunohistology. Mod Pathol. 2006;19(12):1536–45.

    Article  CAS  PubMed  Google Scholar 

  14. Bennett JM, Catovsky D, Daniel MT, Flandrin G, Galton DA, Gralnick HR, et al. Proposals for the classification of the acute leukaemias. French-American-British (FAB) co-operative group. Br J Haematol. 1976;33(4):451–8.

    Article  CAS  PubMed  Google Scholar 

  15. Bain BJ. What is a promonocyte? Am J Hematol. 2013;88(10):919.

    Article  PubMed  Google Scholar 

  16. Goasguen JE, Bennett JM, Bain BJ, Vallespi T, Brunning R, Mufti GJ, et al. Morphological evaluation of monocytes and their precursors. Haematologica. 2009;94(7):994–7.

    Article  PubMed  PubMed Central  Google Scholar 

  17. Facchetti F, De Wolf-Peeters C, Kennes C, Rossi G, De Vos R, van den Oord JJ, et al. Leukemia-associated lymph node infiltrates of plasmacytoid monocytes (so-called plasmacytoid T-cells). Evidence for two distinct histological and immunophenotypical patterns. Am J Surg Pathol. 1990;14(2):101–12.

    Article  CAS  PubMed  Google Scholar 

  18. Maschek H, Georgii A, Kaloutsi V, Werner M, Bandecar K, Kressel MG, et al. Myelofibrosis in primary myelodysplastic syndromes: a retrospective study of 352 patients. Eur J Haematol. 1992;48(4):208–14.

    Article  CAS  PubMed  Google Scholar 

  19. Gur HD, Loghavi S, Garcia-Manero G, Routbort M, Kanagal-Shamanna R, Quesada A, et al. Chronic myelomonocytic leukemia with fibrosis is a distinct disease subset with myeloproliferative features and frequent JAK2 p.V617F mutations. Am J Surg Pathol. 2018;42(6):799–806.

    Article  PubMed  Google Scholar 

  20. Petrova-Drus K, Chiu A, Margolskee E, Barouk-Fox S, Geyer J, Dogan A, et al. Bone marrow fibrosis in chronic myelomonocytic leukemia is associated with increased megakaryopoiesis, splenomegaly and with a shorter median time to disease progression. Oncotarget. 2017;8(61):103274–82.

    Article  PubMed  PubMed Central  Google Scholar 

  21. Baddoura FK, Hanson C, Chan WC. Plasmacytoid monocyte proliferation associated with myeloproliferative disorders. Cancer. 1992;69(6):1457–67.

    Article  CAS  PubMed  Google Scholar 

  22. Harris NL, Demirjian Z. Plasmacytoid T-zone cell proliferation in a patient with chronic myelomonocytic leukemia. Histologic and immunohistologic characterization. Am J Surg Pathol. 1991;15(1):87–95.

    Article  CAS  PubMed  Google Scholar 

  23. Vermi W, Facchetti F, Rosati S, Vergoni F, Rossi E, Festa S, et al. Nodal and extranodal tumor-forming accumulation of plasmacytoid monocytes/interferon-producing cells associated with myeloid disorders. Am J Surg Pathol. 2004;28(5):585–95.

    Article  PubMed  Google Scholar 

  24. Wang HY, Feldman AL. Exuberant nodal proliferation of mature plasmacytoid dendritic cells in a patient with chronic myelomonocytic leukemia. Blood. 2017;130(11):1387.

    Article  CAS  PubMed  Google Scholar 

  25. Patnaik MM, Tefferi A. Cytogenetic and molecular abnormalities in chronic myelomonocytic leukemia. Blood Cancer J. 2016;6:e393.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  26. Becher R, Carbonell F, Bartram CR. Isochromosome 17q in Ph1-negative leukemia: a clinical, cytogenetic, and molecular study. Blood. 1990;75(8):1679–83.

    Article  CAS  PubMed  Google Scholar 

  27. Casalone R, Francesconi D, Pasquali F, Comotti B, Vaccari F. Isochromosome (17q) in Philadelphia chromosome (Ph1)-negative juvenile chronic myelocytic leukemia. Cancer Genet Cytogenet. 1981;3(2):145–8.

    Article  CAS  PubMed  Google Scholar 

  28. Kanagal-Shamanna R, Bueso-Ramos CE, Barkoh B, Lu G, Wang S, Garcia-Manero G, et al. Myeloid neoplasms with isolated isochromosome 17q represent a clinicopathologic entity associated with myelodysplastic/myeloproliferative features, a high risk of leukemic transformation, and wild-type TP53. Cancer. 2012;118(11):2879–88.

    Article  CAS  PubMed  Google Scholar 

  29. Kanagal-Shamanna R, Luthra R, Yin CC, Patel KP, Takahashi K, Lu X, et al. Myeloid neoplasms with isolated isochromosome 17q demonstrate a high frequency of mutations in SETBP1, SRSF2, ASXL1 and NRAS. Oncotarget. 2016;7(12):14251–8.

    Article  PubMed  PubMed Central  Google Scholar 

  30. Lamprianidou E, Kordella C, Papoutselis M, Bezyrgiannidou Z, Nakou E, Papamichos S, et al. Myeloid neoplasms with isolated isochromosome 17q: a yet to be defined entity. Mediterr J Hematol Infect Dis. 2017;9(1):e2017066.

    Article  PubMed  PubMed Central  Google Scholar 

  31. Baer MR, Stewart CC, Lawrence D, Arthur DC, Mrozek K, Strout MP, et al. Acute myeloid leukemia with 11q23 translocations: myelomonocytic immunophenotype by multiparameter flow cytometry. Leukemia. 1998;12(3):317–25.

    Article  CAS  PubMed  Google Scholar 

  32. Mrozek K, Heinonen K, Lawrence D, Carroll AJ, Koduru PR, Rao KW, et al. Adult patients with de novo acute myeloid leukemia and t(9; 11)(p22; q23) have a superior outcome to patients with other translocations involving band 11q23: a cancer and leukemia group B study. Blood. 1997;90(11):4532–8.

    Article  CAS  PubMed  Google Scholar 

  33. Zuo W, Wang SA, DiNardo C, Yabe M, Li S, Medeiros LJ, et al. Acute leukaemia and myelodysplastic syndromes with chromosomal rearrangement involving 11q23 locus, but not MLL gene. J Clin Pathol. 2017;70(3):244–9.

    Article  CAS  PubMed  Google Scholar 

  34. Itzykson R, Kosmider O, Renneville A, Gelsi-Boyer V, Meggendorfer M, Morabito M, et al. Prognostic score including gene mutations in chronic myelomonocytic leukemia. J Clin Oncol. 2013;31(19):2428–36.

    Article  CAS  PubMed  Google Scholar 

  35. Patnaik MM, Tefferi A. Chronic myelomonocytic leukemia: 2016 update on diagnosis, risk stratification, and management. Am J Hematol. 2016;91(6):631–42.

    Article  CAS  PubMed  Google Scholar 

  36. Melo JV, Myint H, Galton DA, Goldman JM. P190BCR-ABL chronic myeloid leukaemia: the missing link with chronic myelomonocytic leukaemia? Leukemia. 1994;8(1):208–11.

    CAS  PubMed  Google Scholar 

  37. Elliott MA, Verstovsek S, Dingli D, Schwager SM, Mesa RA, Li CY, et al. Monocytosis is an adverse prognostic factor for survival in younger patients with primary myelofibrosis. Leuk Res. 2007;31(11):1503–9.

    Article  CAS  PubMed  Google Scholar 

  38. Tefferi A, Shah S, Mudireddy M, Lasho TL, Barraco D, Hanson CA, et al. Monocytosis is a powerful and independent predictor of inferior survival in primary myelofibrosis. Br J Haematol. 2018;183:835–8.

    Article  PubMed  Google Scholar 

  39. Chapman J, Geyer JT, Khanlari M, Moul A, Casas C, Connor ST, et al. Myeloid neoplasms with features intermediate between primary myelofibrosis and chronic myelomonocytic leukemia. Mod Pathol. 2018;31(3):429–41.

    Article  CAS  PubMed  Google Scholar 

  40. Schuler E, Frank F, Hildebrandt B, Betz B, Strupp C, Rudelius M, et al. Myelodysplastic syndromes without peripheral monocytosis but with evidence of marrow monocytosis share clinical and molecular characteristics with CMML. Leuk Res. 2018;65:1–4.

    Article  CAS  PubMed  Google Scholar 

  41. Vidholia A, Menon MP. “Cup-like” blasts in acute myeloid leukemia with FLT3 and NPM1 mutations. Blood. 2015;125(5):889.

    Article  PubMed  Google Scholar 

  42. Bennett JM, Pryor J, Laughlin TS, Rothberg PG, Burack WR. Is the association of “cup-like” nuclei with mutation of the NPM1 gene in acute myeloid leukemia clinically useful? Am J Clin Pathol. 2010;134(4):648–52.

    Article  PubMed  Google Scholar 

  43. Jain P, Vega-Vazquez F, Faderl S. “Cup-like” blasts and NPM1 and FLT3 (ITD) mutations in acute myeloid leukemia (AML). Int J Hematol. 2013;98(1):3.

    Article  PubMed  Google Scholar 

  44. Park BG, Chi HS, Jang S, Park CJ, Kim DY, Lee JH, et al. Association of cup-like nuclei in blasts with FLT3 and NPM1 mutations in acute myeloid leukemia. Ann Hematol. 2013;92(4):451–7.

    Article  CAS  PubMed  Google Scholar 

  45. Reiter A, Gotlib J. Myeloid neoplasms with eosinophilia. Blood. 2017;129(6):704–14.

    Article  CAS  PubMed  Google Scholar 

  46. Deininger MWN, Tyner JW, Solary E. Turning the tide in myelodysplastic/myeloproliferative neoplasms. Nat Rev Cancer. 2017;17(7):425–40.

    Article  CAS  PubMed  Google Scholar 

  47. Tefferi A, Skoda R, Vardiman JW. Myeloproliferative neoplasms: contemporary diagnosis using histology and genetics. Nat Rev Clin Oncol. 2009;6(11):627–37.

    Article  CAS  PubMed  Google Scholar 

  48. Zukerberg LR, Ferry JA, Conlon M, Harris NL. Plasma cell myeloma with cleaved, multilobated, and monocytoid nuclei. Am J Clin Pathol. 1990;93(5):657–61.

    Article  CAS  PubMed  Google Scholar 

  49. Loghavi S, Curry JL, Garcia-Manero G, Patel KP, Xu J, Khoury JD, et al. Chronic myelomonocytic leukemia masquerading as cutaneous indeterminate dendritic cell tumor: expanding the spectrum of skin lesions in chronic myelomonocytic leukemia. J Cutan Pathol. 2017;44(12):1075–9.

    Article  PubMed  Google Scholar 

  50. Julia F, Dalle S, Duru G, Balme B, Vergier B, Ortonne N, et al. Blastic plasmacytoid dendritic cell neoplasms: clinico-immunohistochemical correlations in a series of 91 patients. Am J Surg Pathol. 2014;38(5):673–80.

    Article  PubMed  Google Scholar 

  51. Vitte F, Fabiani B, Benet C, Dalac S, Balme B, Delattre C, et al. Specific skin lesions in chronic myelomonocytic leukemia: a spectrum of myelomonocytic and dendritic cell proliferations: a study of 42 cases. Am J Surg Pathol. 2012;36(9):1302–16.

    Article  PubMed  Google Scholar 

  52. Guru Murthy GS, Dhakal I, Mehta P. Incidence and survival outcomes of chronic myelomonocytic leukemia in the United States. Leuk Lymphoma. 2017;58(7):1648–54.

    Article  PubMed  Google Scholar 

  53. Srour SA, Devesa SS, Morton LM, Check DP, Curtis RE, Linet MS, et al. Incidence and patient survival of myeloproliferative neoplasms and myelodysplastic/myeloproliferative neoplasms in the United States, 2001–12. Br J Haematol. 2016;174(3):382–96.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  54. Elena C, Galli A, Such E, Meggendorfer M, Germing U, Rizzo E, et al. Integrating clinical features and genetic lesions in the risk assessment of patients with chronic myelomonocytic leukemia. Blood. 2016;128(10):1408–17.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  55. Such E, Germing U, Malcovati L, Cervera J, Kuendgen A, Della Porta MG, et al. Development and validation of a prognostic scoring system for patients with chronic myelomonocytic leukemia. Blood. 2013;121(15):3005–15.

    Article  CAS  PubMed  Google Scholar 

  56. Wassie EA, Itzykson R, Lasho TL, Kosmider O, Finke CM, Hanson CA, et al. Molecular and prognostic correlates of cytogenetic abnormalities in chronic myelomonocytic leukemia: a Mayo Clinic-French Consortium Study. Am J Hematol. 2014;89(12):1111–5.

    Article  CAS  PubMed  Google Scholar 

  57. Patnaik MM, Wassie EA, Padron E, Onida F, Itzykson R, Lasho TL, et al. Chronic myelomonocytic leukemia in younger patients: molecular and cytogenetic predictors of survival and treatment outcome. Blood Cancer J. 2015;5:e280.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  58. Tefferi A, Elliott M, Pardanani A. Chronic neutrophilic leukemia: novel mutations and their impact on clinical practice. Curr Opin Hematol. 2015;22(2):171–6.

    Article  CAS  PubMed  Google Scholar 

  59. Patnaik MM, Zahid MF, Lasho TL, Finke C, Ketterling RL, Gangat N, et al. Number and type of TET2 mutations in chronic myelomonocytic leukemia and their clinical relevance. Blood Cancer J. 2016;6(9):e472.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  60. Onida F, Kantarjian HM, Smith TL, Ball G, Keating MJ, Estey EH, et al. Prognostic factors and scoring systems in chronic myelomonocytic leukemia: a retrospective analysis of 213 patients. Blood. 2002;99(3):840–9.

    Article  CAS  PubMed  Google Scholar 

  61. Germing U, Strupp C, Aivado M, Gattermann N. New prognostic parameters for chronic myelomonocytic leukemia. Blood. 2002;100(2):731–2; author reply 2–3.

    Article  CAS  PubMed  Google Scholar 

  62. Kantarjian H, O’Brien S, Ravandi F, Cortes J, Shan J, Bennett JM, et al. Proposal for a new risk model in myelodysplastic syndrome that accounts for events not considered in the original International Prognostic Scoring System. Cancer. 2008;113(6):1351–61.

    Article  CAS  PubMed  Google Scholar 

  63. Padron E, Garcia-Manero G, Patnaik MM, Itzykson R, Lasho T, Nazha A, 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.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  64. Greenberg P, Cox C, LeBeau MM, Fenaux P, Morel P, Sanz G, et al. International scoring system for evaluating prognosis in myelodysplastic syndromes. Blood. 1997;89(6):2079–88.

    Article  CAS  PubMed  Google Scholar 

  65. Greenberg PL, Tuechler H, Schanz J, Sanz G, Garcia-Manero G, Sole F, et al. Revised international prognostic scoring system for myelodysplastic syndromes. Blood. 2012;120(12):2454–65.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  66. Calvo X, Nomdedeu M, Santacruz R, Martinez N, Costa D, Pereira A, et al. Comparison of three prognostic scoring systems in a series of 146 cases of chronic myelomonocytic leukemia (CMML): MD Anderson prognostic score (MDAPS), CMML-specific prognostic scoring system (CPSS) and Mayo prognostic model. A detailed review of prognostic factors in CMML. Leuk Res. 2015;pii: S0145-2126:30324–6.

    Google Scholar 

  67. Solary E, Itzykson R. How I treat chronic myelomonocytic leukemia. Blood. 2017;130(2):126–36.

    Article  CAS  PubMed  Google Scholar 

  68. Patnaik MM, Lasho TL, Vijayvargiya P, Finke CM, Hanson CA, Ketterling RP, et al. Prognostic interaction between ASXL1 and TET2 mutations in chronic myelomonocytic leukemia. Blood Cancer J. 2016;6:e385.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  69. Patnaik MM, Padron E, LaBorde RR, Lasho TL, Finke CM, Hanson CA, et al. Mayo prognostic model for WHO-defined chronic myelomonocytic leukemia: ASXL1 and spliceosome component mutations and outcomes. Leukemia. 2013;27(7):1504–10.

    Article  CAS  PubMed  Google Scholar 

  70. Dao KH, Tyner JW. What’s different about atypical CML and chronic neutrophilic leukemia? Hematology Am Soc Hematol Educ Program. 2015;2015:264–71.

    Article  PubMed  Google Scholar 

  71. Gilioli A, Paolini A, Bonacorsi G, Luppi M. A typical atypical chronic myeloid leukemia. Clin Case Rep. 2018;6(5):915–6.

    Article  PubMed  PubMed Central  Google Scholar 

  72. Wang SA, Hasserjian RP, Fox PS, Rogers HJ, Geyer JT, Chabot-Richards D, et al. Atypical chronic myeloid leukemia is clinically distinct from unclassifiable myelodysplastic/myeloproliferative neoplasms. Blood. 2014;123(17):2645–51.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  73. Vardiman JW, Bennett JM, Bain BJ, Brunning RD, Thiele J. Atypical chronic myeloid leukaemia, BCR-ABL1 negative. In: Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, et al., editors. WHO classification of tumors of haematopoietic and lymphoid tissues. Lyon: IARC Press; 2008. p. 38–9.

    Google Scholar 

  74. Felman P, Bryon PA, Gentilhomme O, Ffrench M, Charrin C, Espinouse D, et al. The syndrome of abnormal chromatin clumping in leucocytes: a myelodysplastic disorder with proliferative features? Br J Haematol. 1988;70(1):49–54.

    Article  CAS  PubMed  Google Scholar 

  75. Oscier DG. Atypical chronic myeloid leukaemia, a distinct clinical entity related to the myelodysplastic syndrome? Br J Haematol. 1996;92(3):582–6.

    Article  CAS  PubMed  Google Scholar 

  76. Hernandez JM, del Canizo MC, Cuneo A, Garcia JL, Gutierrez NC, Gonzalez M, et al. Clinical, hematological and cytogenetic characteristics of atypical chronic myeloid leukemia. Ann Oncol. 2000;11(4):441–4.

    Article  CAS  PubMed  Google Scholar 

  77. Breccia M, Biondo F, Latagliata R, Carmosino I, Mandelli F, Alimena G. Identification of risk factors in atypical chronic myeloid leukemia. Haematologica. 2006;91(11):1566–8.

    PubMed  Google Scholar 

  78. Xubo G, Xingguo L, Xianguo W, Rongzhen X, Xibin X, Lin W, et al. The role of peripheral blood, bone marrow aspirate and especially bone marrow trephine biopsy in distinguishing atypical chronic myeloid leukemia from chronic granulocytic leukemia and chronic myelomonocytic leukemia. Eur J Haematol. 2009;83(4):292–301.

    Article  PubMed  Google Scholar 

  79. Kurzrock R, Kantarjian HM, Shtalrid M, Gutterman JU, Talpaz M. Philadelphia chromosome-negative chronic myelogenous leukemia without breakpoint cluster region rearrangement: a chronic myeloid leukemia with a distinct clinical course. Blood. 1990;75(2):445–52.

    Article  CAS  PubMed  Google Scholar 

  80. Gotlib J. How I treat atypical chronic myeloid leukemia. Blood. 2017;129(7):838–45.

    Article  CAS  PubMed  Google Scholar 

  81. Dao KT, Tyner JW, Gotlib J. Recent progress in chronic neutrophilic leukemia and atypical chronic myeloid leukemia. Curr Hematol Malig Rep. 2017;12(5):432–41.

    Article  PubMed  Google Scholar 

  82. Patnaik MM, Barraco D, Lasho TL, Finke CM, Reichard K, Hoversten KP, et al. Targeted next generation sequencing and identification of risk factors in World Health Organization defined atypical chronic myeloid leukemia. Am J Hematol. 2017;92(6):542–8.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  83. Piazza R, Valletta S, Winkelmann N, Redaelli S, Spinelli R, Pirola A, et al. Recurrent SETBP1 mutations in atypical chronic myeloid leukemia. Nat Genet. 2013;45(1):18–24.

    Article  CAS  PubMed  Google Scholar 

  84. Meggendorfer M, Bacher U, Alpermann T, Haferlach C, Kern W, Gambacorti-Passerini C, et al. SETBP1 mutations occur in 9% of MDS/MPN and in 4% of MPN cases and are strongly associated with atypical CML, monosomy 7, isochromosome i(17)(q10), ASXL1 and CBL mutations. Leukemia. 2013;27(9):1852–60.

    Article  CAS  PubMed  Google Scholar 

  85. Gotlib J, Maxson JE, George TI, Tyner JW. The new genetics of chronic neutrophilic leukemia and atypical CML: implications for diagnosis and treatment. Blood. 2013;122(10):1707–11.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  86. Vardiman JW. Chronic myelogenous leukemia, BCR-ABL1+. Am J Clin Pathol. 2009;132(2):250–60.

    Article  CAS  PubMed  Google Scholar 

  87. Elliott MA, Pardanani A, Hanson CA, Lasho TL, Finke CM, Belachew AA, et al. ASXL1 mutations are frequent and prognostically detrimental in CSF3R-mutated chronic neutrophilic leukemia. Am J Hematol. 2015;90(7):653–6.

    Article  CAS  PubMed  Google Scholar 

  88. Maxson JE, Gotlib J, Pollyea DA, Fleischman AG, Agarwal A, Eide CA, et al. Oncogenic CSF3R mutations in chronic neutrophilic leukemia and atypical CML. N Engl J Med. 2013;368(19):1781–90.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  89. Talati C, Padron E. An exercise in extrapolation: clinical management of atypical CML, MDS/MPN-unclassifiable, and MDS/MPN-RS-T. Curr Hematol Malig Rep. 2016;11(6):425–33.

    Article  PubMed  Google Scholar 

  90. Dhakal P, Gundabolu K, Amador C, Rayamajhi S, Bhatt VR. Atypical chronic myeloid leukemia: a rare entity with management challenges. Future Oncol. 2018;14(2):177–85.

    Article  CAS  PubMed  Google Scholar 

  91. Vardiman JW. The World Health Organization (WHO) classification of tumors of the hematopoietic and lymphoid tissues: an overview with emphasis on the myeloid neoplasms. Chem Biol Interact. 2010;184(1–2):16–20.

    Article  CAS  PubMed  Google Scholar 

  92. Niemeyer CM, Arico M, Basso G, Biondi A, Cantu Rajnoldi A, Creutzig U, et al. Chronic myelomonocytic leukemia in childhood: a retrospective analysis of 110 cases. European Working Group on Myelodysplastic Syndromes in Childhood (EWOG-MDS). Blood. 1997;89(10):3534–43.

    CAS  PubMed  Google Scholar 

  93. Loh ML. Childhood myelodysplastic syndrome: focus on the approach to diagnosis and treatment of juvenile myelomonocytic leukemia. Hematology Am Soc Hematol Educ Program. 2010;2010:357–62.

    Article  PubMed  Google Scholar 

  94. Passmore SJ, Hann IM, Stiller CA, Ramani P, Swansbury GJ, Gibbons B, et al. Pediatric myelodysplasia: a study of 68 children and a new prognostic scoring system. Blood. 1995;85(7):1742–50.

    Article  CAS  PubMed  Google Scholar 

  95. Weinberg RS, Leibowitz D, Weinblatt ME, Kochen J, Alter BP. Juvenile chronic myelogenous leukaemia: the only example of truly fetal (not fetal-like) erythropoiesis. Br J Haematol. 1990;76(2):307–10.

    Article  CAS  PubMed  Google Scholar 

  96. Stieglitz E, Taylor-Weiner AN, Chang TY, Gelston LC, Wang YD, Mazor T, et al. The genomic landscape of juvenile myelomonocytic leukemia. Nat Genet. 2015;47(11):1326–33.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  97. Flotho C, Kratz C, Niemeyer CM. Targeting RAS signaling pathways in juvenile myelomonocytic leukemia. Curr Drug Targets. 2007;8(6):715–25.

    Article  CAS  PubMed  Google Scholar 

  98. Moritake H, Ikeda T, Manabe A, Kamimura S, Nunoi H. Cytomegalovirus infection mimicking juvenile myelomonocytic leukemia showing hypersensitivity to granulocyte-macrophage colony stimulating factor. Pediatr Blood Cancer. 2009;53(7):1324–6.

    Article  PubMed  Google Scholar 

  99. Nishio N, Takahashi Y, Tanaka M, Xu Y, Yoshida N, Sakaguchi H, et al. Aberrant phosphorylation of STAT5 by granulocyte-macrophage colony-stimulating factor in infant cytomegalovirus infection mimicking juvenile myelomonocytic leukemia. Leuk Res. 2011;35(9):1261–4.

    Article  CAS  PubMed  Google Scholar 

  100. Lorenzana A, Lyons H, Sawaf H, Higgins M, Carrigan D, Emanuel PD. Human herpesvirus 6 infection mimicking juvenile myelomonocytic leukemia in an infant. J Pediatr Hematol Oncol. 2002;24(2):136–41.

    Article  PubMed  Google Scholar 

  101. Herrod HG, Dow LW, Sullivan JL. Persistent epstein-barr virus infection mimicking juvenile chronic myelogenous leukemia: immunologic and hematologic studies. Blood. 1983;61(6):1098–104.

    Article  CAS  PubMed  Google Scholar 

  102. Satwani P, Kahn J, Dvorak CC. Juvenile myelomonocytic leukemia. Pediatr Clin N Am. 2015;62(1):95–106.

    Article  Google Scholar 

  103. Locatelli F, Niemeyer CM. How I treat juvenile myelomonocytic leukemia. Blood. 2015;125(7):1083–90.

    Article  CAS  PubMed  Google Scholar 

  104. Puri K, Singh P, Das RR, Seth R, Gupta R. Diagnostic dilemma of JMML coexisting with CMV infection. Indian J Pediatr. 2011;78(4):485–7.

    Article  PubMed  Google Scholar 

  105. Karow A, Baumann I, Niemeyer CM. Morphologic differential diagnosis of juvenile myelomonocytic leukemia--pitfalls apart from viral infection. J Pediatr Hematol Oncol. 2009;31(5):380.

    Article  PubMed  Google Scholar 

  106. Tartaglia M, Niemeyer CM, Fragale A, Song X, Buechner J, Jung A, et al. Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia. Nat Genet. 2003;34(2):148–50.

    Article  CAS  PubMed  Google Scholar 

  107. Schubbert S, Zenker M, Rowe SL, Boll S, Klein C, Bollag G, et al. Germline KRAS mutations cause Noonan syndrome. Nat Genet. 2006;38(3):331–6.

    Article  CAS  PubMed  Google Scholar 

  108. Kratz CP, Niemeyer CM, Castleberry RP, Cetin M, Bergstrasser E, Emanuel PD, et al. The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease. Blood. 2005;106(6):2183–5.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  109. Niemeyer CM, Kratz CP. Paediatric myelodysplastic syndromes and juvenile myelomonocytic leukaemia: molecular classification and treatment options. Br J Haematol. 2008;140(6):610–24.

    Article  CAS  PubMed  Google Scholar 

  110. Bader-Meunier B, Tchernia G, Mielot F, Fontaine JL, Thomas C, Lyonnet S, et al. Occurrence of myeloproliferative disorder in patients with Noonan syndrome. J Pediatr. 1997;130(6):885–9.

    Article  CAS  PubMed  Google Scholar 

  111. Makishima H, Cazzolli H, Szpurka H, Dunbar A, Tiu R, Huh J, et al. Mutations of e3 ubiquitin ligase cbl family members constitute a novel common pathogenic lesion in myeloid malignancies. J Clin Oncol. 2009;27(36):6109–16.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  112. Perez B, Mechinaud F, Galambrun C, Ben Romdhane N, Isidor B, Philip N, et al. Germline mutations of the CBL gene define a new genetic syndrome with predisposition to juvenile myelomonocytic leukaemia. J Med Genet. 2010;47(10):686–91.

    Article  CAS  PubMed  Google Scholar 

  113. Muramatsu H, Makishima H, Jankowska AM, Cazzolli H, O’Keefe C, Yoshida N, et al. Mutations of an E3 ubiquitin ligase c-Cbl but not TET2 mutations are pathogenic in juvenile myelomonocytic leukemia. Blood. 2010;115(10):1969–75.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  114. Niemeyer CM, Kang MW, Shin DH, Furlan I, Erlacher M, Bunin NJ, et al. Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia. Nat Genet. 2010;42(9):794–800.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  115. Pathak A, Pemov A, McMaster ML, Dewan R, Ravichandran S, Pak E, et al. Juvenile myelomonocytic leukemia due to a germline CBL Y371C mutation: 35-year follow-up of a large family. Hum Genet. 2015;134(7):775–87.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  116. Muraoka M, Okuma C, Kanamitsu K, Ishida H, Kanazawa Y, Washio K, et al. Adults with germline CBL mutation complicated with juvenile myelomonocytic leukemia at infancy. J Hum Genet. 2016;61(6):523–6.

    Article  CAS  PubMed  Google Scholar 

  117. Aldrich RA, Steinberg AG, Campbell DC. Pedigree demonstrating a sex-linked recessive condition characterized by draining ears, eczematoid dermatitis and bloody diarrhea. Pediatrics. 1954;13(2):133–9.

    Article  CAS  PubMed  Google Scholar 

  118. Sano H, Kobayashi R, Suzuki D, Yasuda K, Nakanishi M, Nagashima T, et al. Wiskott-Aldrich syndrome with unusual clinical features similar to juvenile myelomonocytic leukemia. Int J Hematol. 2012;96(2):279–83.

    Article  PubMed  Google Scholar 

  119. Yoshimi A, Kamachi Y, Imai K, Watanabe N, Nakadate H, Kanazawa T, et al. Wiskott-Aldrich syndrome presenting with a clinical picture mimicking juvenile myelomonocytic leukaemia. Pediatr Blood Cancer. 2013;60(5):836–41.

    Article  CAS  PubMed  Google Scholar 

  120. Hoyoux C, Dresse MF, Forget P, Piette C, Rausin L, Villa A, et al. Osteopetrosis mimicking juvenile myelomonocytic leukemia. Pediatr Int. 2014;56(5):779–82.

    Article  CAS  PubMed  Google Scholar 

  121. Mazzolari E, Forino C, Razza A, Porta F, Villa A, Notarangelo LD. A single-center experience in 20 patients with infantile malignant osteopetrosis. Am J Hematol. 2009;84(8):473–9.

    Article  CAS  PubMed  Google Scholar 

  122. Haroche J, Abla O. Uncommon histiocytic disorders: Rosai-Dorfman, juvenile xanthogranuloma, and Erdheim-Chester disease. Hematology Am Soc Hematol Educ Program. 2015;2015:571–8.

    Article  PubMed  Google Scholar 

  123. Ozono S, Inada H, Nakagawa SI, Ueda K, Matsumura H, Kojima S, et al. Juvenile myelomonocytic leukemia characterized by cutaneous lesion containing Langerhans cell histiocytosis-like cells. Int J Hematol. 2011;93(3):389–93.

    Article  PubMed  Google Scholar 

  124. Gutmann DH, Gurney JG, Shannon KM. Juvenile xanthogranuloma, neurofibromatosis 1, and juvenile chronic myeloid leukemia. Arch Dermatol. 1996;132(11):1390–1.

    Article  CAS  PubMed  Google Scholar 

  125. Zvulunov A. Juvenile xanthogranuloma, neurofibromatosis, and juvenile chronic myelogenous leukemia. Arch Dermatol. 1996;132(6):712–3.

    Article  CAS  PubMed  Google Scholar 

  126. Zvulunov A, Barak Y, Metzker A. Juvenile xanthogranuloma, neurofibromatosis, and juvenile chronic myelogenous leukemia. World statistical analysis. Arch Dermatol. 1995;131(8):904–8.

    Article  CAS  PubMed  Google Scholar 

  127. Campochiaro C, Tomelleri A, Cavalli G, Berti A, Dagna L. Erdheim-Chester disease. Eur J Intern Med. 2015;26(4):223–9.

    Article  CAS  PubMed  Google Scholar 

  128. Allen CE, Parsons DW. Biological and clinical significance of somatic mutations in Langerhans cell histiocytosis and related histiocytic neoplastic disorders. Hematology Am Soc Hematol Educ Program. 2015;2015:559–64.

    Article  PubMed  Google Scholar 

  129. Smpokou P, Zand DJ, Rosenbaum KN, Summar ML. Malignancy in Noonan syndrome and related disorders. Clin Genet. 2015;88(6):516–22.

    Article  CAS  PubMed  Google Scholar 

  130. Tartaglia M, Gelb BD, Zenker M. Noonan syndrome and clinically related disorders. Best Pract Res Clin Endocrinol Metab. 2011;25(1):161–79.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  131. Kratz CP, Schubbert S, Bollag G, Niemeyer CM, Shannon KM, Zenker M. Germline mutations in components of the Ras signaling pathway in Noonan syndrome and related disorders. Cell Cycle. 2006;5(15):1607–11.

    Article  CAS  PubMed  Google Scholar 

  132. Tartaglia M, Gelb BD. Noonan syndrome and related disorders: genetics and pathogenesis. Annu Rev Genomics Hum Genet. 2005;6:45–68.

    Article  CAS  PubMed  Google Scholar 

  133. Attias D, Grunberger T, Vanek W, Estrov Z, Cohen A, Lau R, et al. B-lineage lymphoid blast crisis in juvenile chronic myelogenous leukemia: II. Interleukin-1-mediated autocrine growth regulation of the lymphoblasts. Leukemia. 1995;9(5):884–8.

    CAS  PubMed  Google Scholar 

  134. Lau RC, Squire J, Brisson L, Kamel-Reid S, Grunberger T, Dube I, et al. Lymphoid blast crisis of B-lineage phenotype with monosomy 7 in a patient with juvenile chronic myelogenous leukemia (JCML). Leukemia. 1994;8(5):903–8.

    CAS  PubMed  Google Scholar 

  135. Scrideli CA, Baruffi MR, Rogatto SR, Valera ET, Defavery R, Tone LG. B lineage acute lymphoblastic leukemia transformation in a child with juvenile myelomonocytic leukemia, type 1 neurofibromatosis and monosomy of chromosome 7. Possible implications in the leukemogenesis. Leuk Res. 2003;27(4):371–4.

    Article  PubMed  Google Scholar 

  136. Loh ML, Mullighan CG. Advances in the genetics of high-risk childhood B-progenitor acute lymphoblastic leukemia and juvenile myelomonocytic leukemia: implications for therapy. Clin Cancer Res. 2012;18(10):2754–67.

    Article  CAS  PubMed  Google Scholar 

  137. Pauli S, Steinemann D, Dittmann K, Wienands J, Shoukier M, Moschner M, et al. Occurrence of acute lymphoblastic leukemia and juvenile myelomonocytic leukemia in a patient with Noonan syndrome carrying the germline PTPN11 mutation p.E139D. Am J Med Genet A. 2012;158A(3):652–8.

    Article  PubMed  CAS  Google Scholar 

  138. Ly B, Modi A, Rogers HJ, Makishima H, Hanna R, Cook JR, et al. Concurrent juvenile myelomonocytic leukemia and T-lymphoblastic lymphoma with a shared missense mutation in NRAS. Pediatr Blood Cancer. 2014;61(5):946–8.

    Article  CAS  PubMed  Google Scholar 

  139. Raikar SS, Scarborough JD, Sabnis H, Bergsagel J, Wu D, Cooper TM, et al. Early T-cell precursor acute lymphoblastic leukemia in an infant with an NRAS Q61R mutation and clinical features of juvenile myelomonocytic leukemia. Pediatr Blood Cancer. 2016;63(9):1667–70.

    Article  CAS  PubMed  Google Scholar 

  140. Maschan AA, Khachatrian LA, Solopova GG, Ossipova EY, Baidun LV, Dmitrieva SV, et al. Development of T-cell acute lymphoblastic leukemia in a patient in very long lasting complete remission of juvenile myelomonocytic leukemia. J Pediatr Hematol Oncol. 2011;33(1):e32–4.

    Article  PubMed  Google Scholar 

  141. Unal S, Cetin M, Kutlay NY, Elmas SA, Gumruk F, Tukun A, et al. Hemophagocytosis associated with leukemia: a striking association with juvenile myelomonocytic leukemia. Ann Hematol. 2010;89(4):359–64.

    Article  PubMed  Google Scholar 

  142. Lo FS, Kuo TT, Wang CJ, Kuo MT, Kuo MC. Hodgkin’s lymphoma in a patient with Noonan syndrome with germ-line PTPN11 mutations. Int J Hematol. 2008;88(3):287–90.

    Article  CAS  PubMed  Google Scholar 

  143. Passmore SJ, Chessells JM, Kempski H, Hann IM, Brownbill PA, Stiller CA. Paediatric myelodysplastic syndromes and juvenile myelomonocytic leukaemia in the UK: a population-based study of incidence and survival. Br J Haematol. 2003;121(5):758–67.

    Article  PubMed  Google Scholar 

  144. Yoshida N, Yagasaki H, Xu Y, Matsuda K, Yoshimi A, Takahashi Y, et al. Correlation of clinical features with the mutational status of GM-CSF signaling pathway-related genes in juvenile myelomonocytic leukemia. Pediatr Res. 2009;65(3):334–40.

    Article  CAS  PubMed  Google Scholar 

  145. Sakashita K, Matsuda K, Koike K. Diagnosis and treatment of juvenile myelomonocytic leukemia. Pediatr Int. 2016;58(8):681–90.

    Article  PubMed  Google Scholar 

  146. Sakaguchi H, Okuno Y, Muramatsu H, Yoshida K, Shiraishi Y, Takahashi M, et al. Exome sequencing identifies secondary mutations of SETBP1 and JAK3 in juvenile myelomonocytic leukemia. Nat Genet. 2013;45(8):937–41.

    Article  CAS  PubMed  Google Scholar 

  147. Stieglitz E, Troup CB, Gelston LC, Haliburton J, Chow ED, Yu KB, et al. Subclonal mutations in SETBP1 confer a poor prognosis in juvenile myelomonocytic leukemia. Blood. 2015;125(3):516–24.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  148. Niemeyer CM. JMML genomics and decisions. Hematology Am Soc Hematol Educ Program. 2018;2018(1):307–12.

    Article  PubMed  PubMed Central  Google Scholar 

  149. Lipka DB, Witte T, Toth R, Yang J, Wiesenfarth M, Nollke P, et al. RAS-pathway mutation patterns define epigenetic subclasses in juvenile myelomonocytic leukemia. Nat Commun. 2017;8(1):2126.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  150. Stieglitz E, Ward AF, Gerbing RB, Alonzo TA, Arceci RJ, Liu YL, et al. Phase II/III trial of a pre-transplant farnesyl transferase inhibitor in juvenile myelomonocytic leukemia: a report from the Children’s Oncology Group. Pediatr Blood Cancer. 2015;62(4):629–36.

    Article  CAS  PubMed  Google Scholar 

  151. Patnaik MM, Tefferi A. Refractory anemia with ring sideroblasts (RARS) and RARS with thrombocytosis (RARS-T): 2017 update on diagnosis, risk-stratification, and management. Am J Hematol. 2017;92(3):297–310.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  152. Malcovati L, Della Porta MG, Pietra D, Boveri E, Pellagatti A, Galli A, et al. Molecular and clinical features of refractory anemia with ringed sideroblasts associated with marked thrombocytosis. Blood. 2009;114(17):3538–45.

    Article  CAS  PubMed  Google Scholar 

  153. Broseus J, Florensa L, Zipperer E, Schnittger S, Malcovati L, Richebourg S, et al. Clinical features and course of refractory anemia with ring sideroblasts associated with marked thrombocytosis. Haematologica. 2012;97(7):1036–41.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  154. Patnaik MM, Lasho TL, Finke CM, Hanson CA, King RL, Ketterling RP, et al. Predictors of survival in refractory anemia with ring sideroblasts and thrombocytosis (RARS-T) and the role of next-generation sequencing. Am J Hematol. 2016;91(5):492–8.

    Article  CAS  PubMed  Google Scholar 

  155. Cortelazzo S, Finazzi G, Ruggeri M, Vestri O, Galli M, Rodeghiero F, et al. Hydroxyurea for patients with essential thrombocythemia and a high risk of thrombosis. N Engl J Med. 1995;332(17):1132–6.

    Article  CAS  PubMed  Google Scholar 

  156. Huls G, Mulder AB, Rosati S, van de Loosdrecht AA, Vellenga E, de Wolf JT. Efficacy of single-agent lenalidomide in patients with JAK2 (V617F) mutated refractory anemia with ring sideroblasts and thrombocytosis. Blood. 2010;116(2):180–2.

    Article  CAS  PubMed  Google Scholar 

  157. Garcia-Manero G. Myelodysplastic syndromes: 2015 update on diagnosis, risk-stratification and management. Am J Hematol. 2015;90(9):831–41.

    Article  PubMed  Google Scholar 

  158. Pardanani A, Lasho TL, Laborde RR, Elliott M, Hanson CA, Knudson RA, et al. CSF3R T618I is a highly prevalent and specific mutation in chronic neutrophilic leukemia. Leukemia. 2013;27(9):1870–3.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  159. Voulgarelis M, Giannouli S, Ritis K, Tzioufas AG. Myelodysplasia-associated autoimmunity: clinical and pathophysiologic concepts. Eur J Clin Investig. 2004;34(10):690–700.

    Article  CAS  Google Scholar 

  160. Elbaek MV, Sorensen AL, Hasselbalch HC. Chronic inflammation and autoimmunity as risk factors for the development of chronic myelomonocytic leukemia? Leuk Lymphoma. 2016;57(8):1793–9.

    Article  CAS  PubMed  Google Scholar 

  161. Grignano E, Mekinian A, Braun T, Liozon E, Hamidou M, Decaux O, et al. Autoimmune and inflammatory diseases associated with chronic myelomonocytic leukemia: a series of 26 cases and literature review. Leuk Res. 2016;47:136–41.

    Article  PubMed  Google Scholar 

  162. Jachiet V, Mekinian A, Carrat F, Grignano E, Retbi A, Boffa JJ, et al. Autoimmune manifestations associated with lymphoma: characteristics and outcome in a multicenter retrospective cohort study. Leuk Lymphoma. 2018;59(6):1399–405.

    Article  PubMed  Google Scholar 

  163. Montoro J, Gallur L, Merchan B, Molero A, Roldan E, Martinez-Valle F, et al. Autoimmune disorders are common in myelodysplastic syndrome patients and confer an adverse impact on outcomes. Ann Hematol. 2018;97(8):1349–56.

    Article  PubMed  Google Scholar 

  164. Kosmider O, Itzykson R, Chesnais V, Lasho T, Laborde R, Knudson R, et al. Mutation of the colony-stimulating factor-3 receptor gene is a rare event with poor prognosis in chronic myelomonocytic leukemia. Leukemia. 2013;27(9):1946–9.

    Article  CAS  PubMed  Google Scholar 

  165. Ouyang Y, Qiao C, Chen Y, Zhang SJ. Clinical significance of CSF3R, SRSF2 and SETBP1 mutations in chronic neutrophilic leukemia and chronic myelomonocytic leukemia. Oncotarget. 2017;8(13):20834–41.

    Article  PubMed  PubMed Central  Google Scholar 

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Cheng, J.X., Vardiman, J.W. (2020). Myelodysplastic/Myeloproliferative Neoplasms. In: Wang, E., Lagoo, A.S. (eds) Practical Lymph Node and Bone Marrow Pathology. Practical Anatomic Pathology. Springer, Cham. https://doi.org/10.1007/978-3-030-32189-5_25

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