eISSN: 1897-4309
ISSN: 1428-2526
Contemporary Oncology/Współczesna Onkologia
Current issue Archive Manuscripts accepted About the journal Supplements Addendum Special Issues Abstracting and indexing Subscription Contact Instructions for authors
SCImago Journal & Country Rank
vol. 22
Review paper

Atypical chronic myeloid leukaemia – a rare subtype of myelodysplastic/myeloproliferative neoplasm

Joanna E. Drozd-Sokołowska, Anna Waszczuk-Gajda, Krzysztof Mądry, Jadwiga Dwilewicz-Trojaczek

Contemp Oncol (Pozn) 2018; 22 (1): 14-19
Online publish date: 2018/04/03
View full text
Get citation
JabRef, Mendeley
Papers, Reference Manager, RefWorks, Zotero
Atypical chronic myeloid leukaemia (aCML) belongs to the group of myelodysplastic/myeloproliferative neoplasms. Changing diagnostic criteria and the rarity of the disease, with incidence approximately 100-times lower than the incidence of BCR-ABL1-positive chronic myeloid leukaemia, result in limited knowledge on aCML. At present the diagnosis is made based on the presence of granulocytic lineage dysplasia and precisely defined quantitative peripheral blood criteria, after exclusion of other molecularly defined myeloid neoplasms. Distinctive cytogenetic and molecular changes for aCML are missing, although recently SETBP1 mutations were described in a significant proportion of patients. The majority of patients are male and elderly. The prognosis of aCML patients is very bad, with median overall survival ranging between 10.8 and 25 months, and acute myeloid leukaemia-free survival amounting to approximately 11 months. No treatment recommendations can be made based upon current evidence, although allogeneic haematopoietic stem cell transplantation seems to be able to induce long-term remission in eligible patients.

atypical chronic myeloid leukaemia, myelodysplastic/myeloproliferative neoplasms, SETBP1 mutations, CSF3R mutations

Galton DA. Haematological differences between chronic granulocytic leukaemia, atypical chronic myeloid leukaemia, and chronic myelomonocytic leukaemia. Leuk Lymphoma 1992; 7: 343-50.
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: 2391-405.
Orazi A, Bennett JM, Bain BJ, et al. Atypical chronic myeloid leukaemia, BCR-ABL1-negative. In: WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues Revised. Swerdlow SH, Campo E, Harris NL, et al. (eds.). 4th Edition. IARC 2017; 87-9.
Wang SA, Hasserjian RP, Fox PS, et al. Atypical chronic myeloid leukemia is clinically distinct from unclassifiable myelodysplastic/myeloproliferative neoplasms. Blood 2014; 123: 2645-51.
Vardiman JW, Bennett JM, Bain BJ, et al. Atypical chronic myeloid leukaemia, BCR-ABL1 negative. In: WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues. Swerdlow SH, Campo E, Lee Harris N, et al. (eds). IARC Press, Lyon 2008; 80-1.
Breccia M, Biondo F, Latagliata R, et al. Identification of risk factors in atypical chronic myeloid leukemia. Haematologica 2006; 91: 1566-8.
Patnaik MM, Barraco D, Lasho TL, 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: 542-548.
Hernandez JM, del Canizo MC, Cuneo A, García JL, Gutiérrez NC, González M, Castoldi G, San Miguel JF. Clinical, hematological and cytogenetic characteristics of atypical chronic myeloid leukemia. Ann Oncol 2000; 11: 441-4.
Kurzrock R, Bueso-Ramos CE, Kantarjian H, Freireich E, Tucker SL, Siciliano M, Pilat S, Talpaz M. BCR rearrangement-negative chronic myelogenous leukemia revisited. J Clin Oncol 2001; 19: 2915-26.
Bennett JM, Catovsky D, Daniel MT, Flandrin G, Galton DA, Gralnick H, Sultan C, Cox C. 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: 746-54.
Onida F, Ball G, Kantarjian HM, et al. Characteristics and outcome of patients with Philadelphia chromosome negative, bcr/abl negative chronic myelogenous leukemia. Cancer 2002; 95: 1673-84.
Maxson JE, Gotlib J, Pollyea DA, et al. Oncogenic CSF3R mutations in chronic neutrophilic leukemia and atypical CML. N Engl J Med 2013; 368: 1781-90.
Pardanani A, Lasho TL, Laborde RR, et al. CSF3R T618I is a highly prevalent and specific mutation in chronic neutrophilic leukemia. Leukemia 2013; 27: 1870-3.
Gambacorti-Passerini CB, Donadoni C, Parmiani A, et al. Recurrent ETNK1 mutations in atypical chronic myeloid leukemia. Blood 2015; 125: 499-503.
Meggendorfer M, Haferlach T, Alpermann T, et al. Specific molecular mutation patterns delineate chronic neutrophilic leukemia, atypical chronic myeloid leukemia, and chronic myelomonocytic leukemia. Haematologica 2014; 99: e244-6.
Piazza R, Valletta S, Winkelmann N, et al. Recurrent SETBP1 mutations in atypical chronic myeloid leukemia. Nat Genet 2013; 45: 18-24.
Meggendorfer M, Bacher U, Alpermann T, 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: 1852-1860.
Lasho TL, Finke CM, Zblewski D, et al. Novel recurrent mutations in ethanolamine kinase 1 (ETNK1) gene in systemic mastocytosis with eosinophilia and chronic myelomonocytic leukemia. Blood Cancer J 2015; 5: e275.
Hausmann H, Bhatt VR, Yuan J, Maness LJ, Ganti AK. Activity of single-agent decitabine in atypical chronic myeloid leukemia. J Oncol Pharm Pract 2015.
Ammatuna E, Eefting M, van Lom K, Kavelaars FG, Valk PJ, Touw IP. Atypical chronic myeloid leukemia with concomitant CSF3R T618I and SETBP1 mutations unresponsive to the JAK inhibitor ruxolitinib. Ann Hematol 2015; 94: 879-880.
Dao KH, Solti MB, Maxson JE, Winton EF, Press RD, Druker BJ, Tyner JW. Significant clinical response to JAK1/2 inhibition in a patient with CSF3R-T618I-positive atypical chronic myeloid leukemia. Leuk Res Rep 2014; 3: 67-69.
Koldehoff M, Beelen DW, Trenschel R, Steckel NK, Peceny R, Ditschkowski M, Ottinger H, Elmaagacli AH. Outcome of hematopoietic stem cell transplantation in patients with atypical chronic myeloid leukemia. Bone Marrow Transplant 2004; 34: 1047-1050.
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.
Cahu X, Chevallier P, Clavert A, et al. Allo-SCT for Philadelphia-negative myeloproliferative neoplasms in blast phase: a study from the Societe Francaise de Greffe de Moelle et de Therapie Cellulaire (SFGM-TC). Bone Marrow Transplant 2014; 49: 756-60.
Langabeer SE, McCarron SL, Haslam K, O’Donovan MT, Conneally E. The CSF3R T618I mutation as a disease-specific marker of atypical CML post allo-SCT. Bone Marrow Transplant 2014; 49: 843-4.
Lim SN, Lee JH, Lee JH, et al. Allogeneic hematopoietic cell transplantation in adult patients with myelodysplastic/myeloproliferative neoplasms. Blood Res 2013; 48: 178-84.
Onida F, de Wreede LC, van Biezen A, et al. Allogeneic stem cell transplantation in patients with atypical chronic myeloid leukaemia: a retrospective study from the Chronic Malignancies Working Party of the European Society for Blood and Marrow Transplantation. Br J Haematol 2017; 177: 759-65.
Gratwohl A, Hermans J, Goldman JM, et al. Risk assessment for patients with chronic myeloid leukaemia before allogeneic blood or marrow transplantation. Chronic Leukemia Working Party of the European Group for Blood and Marrow Transplantation. Lancet 1998; 352: 1087-92.
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: 1707-11.
Vardiman JW, Imbert M. Atypical chronic myeloid leukaemia. In: Pathology and Genetics of Tumours of Haematopoietic and Lymphoid Tissues. Jaffe ES, Harris NL, Stein H, JWV (eds.). World Health Organization Classification of Tumours. Lyon IARC Press 2001; 53-54.
Drozd-Sokolowska J, Madry K, Waszczuk-Gajda A, et al. Atypical chronic myeloid leukaemia: A case of an orphan disease-A multicenter report by the Polish Adult Leukemia Group. Hematol Oncol 2018; doi: 10.1002/hon.2501.
Nangalia J, Massie CE, Baxter EJ, et al. Somatic CALR mutations in myeloproliferative neoplasms with nonmutated JAK2. N Engl J Med 2013; 369: 2391-2405.
Grand FH, Hidalgo-Curtis CE, Ernst T, et al. Frequent CBL mutations associated with 11q acquired uniparental disomy in myeloproliferative neoplasms. Blood 2009; 113: 6182-92.
Quick links
© 2019 Termedia Sp. z o.o. All rights reserved.
Developed by Bentus.
PayU - płatności internetowe