Atypical Chronic Myelogenous Leukemia, BCR-ABL1 Negative: Diagnostic Criteria and Treatment Approaches

Abstract

Atypical chronic myelogenous leukemia (aCML), BCR/ABL1 negative is a rare myelodysplastic/myeloproliferative neoplasm, usually manifested with hyperleukocytosis without monocytosis or basophilia, organomegaly, and marked dysgranulopoiesis. In this review, we will discuss the classification and diagnostic criteria of aCML, as these have been formulated during the past 30 years, with a focus on the recent advances in the molecular characterization of the disease. Although this entity does not have a definitive molecular profile, its molecular characterization has contributed to a better understanding and more accurate classification and diagnosis of aCML. At the same time, it has facilitated the identification of adverse prognostic factors and the stratification of patients according to their risk for leukemic transformation. What is more, the molecular characterization of the disease has expanded our therapeutic choices, thoroughly presented and analyzed in this review article.

A case report of atypical chronic myeloid leukemia with complete hematological and major molecular response to Venetoclax/Azacitidine treatment

“…aCML is a rare disease, and standard treatment approaches are lacking both domestically and internationally. Patients should be treated promptly when they manifest progressive leukocytosis, anemia, thrombocytopenia, spleen enlargement, or other disease-associated symptoms ( 2 , 5 ). Allogeneic Hematopoietic Stem Cell Transplantation (allo-HSCT) is recommended as a preferred option for younger patients with a suitable donor; however, the optimal timing of transplantation remains controversial ( 6 ).…”

Chronic Myeloid Leukemia, from Pathophysiology to Treatment-Free Remission: A Narrative Literature Review

“…Gene mutations commonly found in BCR-ABL-negative CML include SETBP1, ASXL1, NRAS/KRAS, SRSF2, CSF3R, U2AF1, and many others. 21 Some of these mutations may be used as potential targets for therapy in BCR-ABL-negative CML, but the evidence to support this is currently lacking. https://doi.org/10.2147/JBM.S382090…”

Four Years Long-Term Follow-Up of Patient with Atypical Chronic Myeloid Leukemia Post Haploidentical Transplant with TBF Conditioning

“…Adverse prognostic factors include: age >65 years, female gender, leukocytosis >50.10 9 /L, peripheral blood myeloid precursors (≥10%) and the presence of SETBP1 mutations. Allogeneic hematopoietic stem cell transplantation (allo-HSCT) remains the only curative option, particularly in younger patients with high-risk disease features at the time of diagnosis [5][6][7][8][9].…”