Diagnosis and Classification of Myelodysplastic Syndromes with Mutated TP53

The genetic underpinnings of myeloid neoplasms are becoming increasingly well understood. The accessibility to sequencing technology, in particular next-generation sequencing (NGS), has highlighted the importance of gene mutations in myelodysplastic syndromes 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… (MDS) in conjunction with traditional cytogenetics cytogenetics: (sie-toe-juh-NEH-tiks) The study of chromosomes (DNA), the part of the cell that contains genetic information. Some cytogenetic abnormalities are linked to different forms of myelodysplastic syndromes (MDS). . With the relatively recent influx of molecular information to complement known cytogenetic abnormalities, the diagnosis, classification, and prognosis of MDS and acute myeloid leukemia 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) have been increasingly refined, which has also led to therapeutic advancements. It has been shown that TP53 mutations have a significant impact in cases of MDS, as well as AML, and have led to TP53-defined myeloid disease. TP53 mutations are also now incorporated into prognostic scoring systems, as patients have been shown to have aggressive disease and poor outcomes. With the increased understanding of the importance of TP53 disruption in myeloid neoplasia, it is likely that the critical role of TP53 will continue to be highlighted by an individual's disease classification and personalized therapeutic management.