Molecular Pathogenesis of BCR-ABL-Negative Atypical Chronic Myeloid Leukemia

Diletta Fontana; Carlo Gambacorti-Passerini; Rocco Piazza

doi:10.3389/fonc.2021.756348

Molecular Pathogenesis of BCR-ABL-Negative Atypical Chronic Myeloid Leukemia

Front Oncol. 2021 Nov 11:11:756348. doi: 10.3389/fonc.2021.756348. eCollection 2021.

Authors

Diletta Fontana¹, Carlo Gambacorti-Passerini^{1

2}, Rocco Piazza^{1

2

3}

Affiliations

¹ Department of Medicine and Surgery, University of Milano-Bicocca, Monza, Italy.
² Hematology and Clinical Research Unit, San Gerardo Hospital, Monza, Italy.
³ Bicocca Bioinformatics, Biostatistics and Bioimaging Centre (B4), University of Milano-Bicocca, Milan, Italy.

Abstract

Atypical chronic myeloid leukemia is a rare disease whose pathogenesis has long been debated. It currently belongs to the group of myelodysplastic/myeloproliferative disorders. In this review, an overview on the current knowledge about diagnosis, prognosis, and genetics is presented, with a major focus on the recent molecular findings. We describe here the molecular pathogenesis of the disease, focusing on the mechanisms of action of the main mutations as well as on gene expression profiling. We also present the treatment options focusing on emerging targeted therapies.

Keywords: BCR-ABL1-negative; ETNK1; MDS/MPN; SETBP1; aCML; molecular pathogenesis.

Publication types

Review