2/29/2024 0 Comments Mylio dysplasiaTP53 for example, is a tumor suppressor gene that has a poor prognosis compared to other mutations. Of note, genetic mutations are not included in prognostic scoring systems for MDS but they have been found to influence overall survival in some cases. These driver mutations have been found to correlate with different clinical features, including the severity of cytopenias, blast percentage, cytogenetics, and overall survival. More than 100 genes have been found to be recurrently mutated in MDS, and these encode spliceosome components, chromatin remodeling factors, epigenetic pattern modulators, and transcription factors among others. RUNX1, for example, is a mutation noted to disrupt normal hematopoiesis. With these developments, researchers can identify one or more driver mutations in up to 80% to 90% of patients with some of the most common ones including SF3B1, TET2, SRSF2, ASXL1, DNMT3A, RUNX1, U2AF1, TP53, and EZH2. Over recent years, we have gained much insight into mutations that are commonly altered in MDS due to advances and rapid availability of gene sequencing. The actual preceding factor(s) for de novo MDS is not entirely understood but assumed to occur from an oncogenic process resulting in one or more somatic mutations. Familial MDS has been reported but is a rare entity. Various environmental and iatrogenic etiologies have been implicated in MDS, including exposure to chemotherapy (alkylating agents in particular), radiation or environmental toxins such as benzene. MDS is a clonal disorder of myeloid stem cells which may occur de novo or secondary to various insults to the bone marrow.
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