Distinctive Molecular Risk Factors Between MDS and MDS/AML Defined by ICC

Journal Name
American Journal of Hematology
Primary Author
Ting-Juan Zhang
Author(s)
Yang-Jing Zhao, Zi-Jun Xu , Jun Qian , Jing-Dong Zhou
Original Publication Date

Myelodysplastic syndromes: (my-eh-lo-diss-PLASS-tik SIN-dromez) A group of disorders where the bone marrow does not work well, and the bone marrow cells fail to make enough healthy blood cells. Myelo refers to the bone marrow. Dysplastic means abnormal growth or development. People with MDS have low blood cell count for at… /neoplasms (MDS) represent a heterogeneous group of clonal hematopoietic stem cell diseases with high risks of acute myeloid leukemia: (uh-KYOOT my-uh-LOYD loo-KEE-mee-uh) A cancer of the blood cells. It happens when very young white blood cells (blasts) in the bone marrow fail to mature. The blast cells stay in the bone marrow and become to numerous. This slows production of red blood cells and platelets. Some cases of MDS become… (AML) transformation. To emphasize the characteristics of AML transformation, the International Consensus Classification (ICC) has classified MDS with excess blasts: See Blast Cells. (10%-19%) as MDS/AML. Recently, a clinical-molecular prognostic model International Prognostic Scoring System: A system that turns patient data into a score. The score tells how quickly a myelodysplastic syndrome (MDS) case is progressing and helps predict what may happen with the patient's MDS in the future. Also called IPSS. Molecular (IPSS-M) is developed, which improves the risk stratification of MDS. However, these molecular risk factors were analyzed in a cohort of highly heterogeneous patients with MDS including MDS/AML. Herein, we re-evaluated and compared the molecular risk factors in MDS (blasts < 10%) and MDS/AML (blasts 10%-19%) defined by ICC. Notably, there is a significant difference in molecular landscape between MDS and MDS/AML. Importantly, most of the risk factors presented in MDS was not shown in MDS/AML except for TP53 aberrations and FLT3-ITD mutation: Any change or alteration in a gene. A mutation may cause disease or may be a normal variation. Paroxysmal nocturnal hemoglobinuria (PNH) occurs because of a mutation in the PIG-A gene of a single stem cell in the bone marrow. . Since the IPSS-R and IPSS-M showed a poorly prognostic separation for MDS/AML patients, we further established a new prognostic model MDS/AML-IPSS-M and significantly improved its prognostic discrimination ability. Taking together, our research findings enhance the understanding of the molecular biology of MDS and can provide important guidance for the clinical identification of MDS/AML patients that might benefit clinical decision-making and therapeutic research.

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