Atypical chronic myeloid leukemia

Definition:

Atypical chronic myeloid leukemia (aCML) is a rare subtype of myelodysplastic/myeloproliferative neoplasm (MDS/MPN). It is characterized by leukocytosis, granulocytic dysplasia, and typically poor patient outcomes. aCML is dominated by mutations in SETBP1, granulocyte colony-stimulating factor 3 receptor (CSF3R), NRAS and KRAS. In addition to these mutations, other recurrent mutations in a variety of genes including NRAS, IDH2, and CBL have recently been described in aCML at lower frequencies.

References:

[1]. Brianna N Smith, et al. Challenges in Myelodysplastic/Myeloproliferative Neoplasms (MDS/MPN). Clin Lymphoma Myeloma Leuk. 2019 Jan;19(1):1-8. [Content Brief]

[2]. Hideki Muramatsu, et al. Chronic myelomonocytic leukemia and atypical chronic myeloid leukemia: novel pathogenetic lesions. Semin Oncol. 2012 Feb;39(1):67-73. [Content Brief]

[3]. Jason Gotlib, et al. The new genetics of chronic neutrophilic leukemia and atypical CML: implications for diagnosis and treatment. Blood. 2013 Sep 5;122(10):1707-11. [Content Brief]

[4]. Katerina Zoi, et al. Molecular pathogenesis of atypical CML, CMML and MDS/MPN-unclassifiable. Int J Hematol. 2015 Mar;101(3):229-42. [Content Brief]

[5]. Lauren C Schwartz, et al. Current and evolving understanding of atypical chronic myeloid leukemia. Blood Rev. 2019 Jan;33:74-81. [Content Brief]

[6]. Michael W N Deininger, et al. Turning the tide in myelodysplastic/myeloproliferative neoplasms. Nat Rev Cancer. 2017 Jun 23;17(7):425-440. [Content Brief]

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