IRCMS International Research Center for Medical Sciences

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IRCMS Seminars

[September 25] 41st IRCMS Seminar

September 10 2018

We would like to inform you that the 41st IRCMS Seminar has been scheduled as below. We would be pleased to see many of you participating in the seminar.


Date       : September 25, 2018 (Tue)
Time    : 17:00 - 18:00
Venue    : 1F Meeting Lounge, International Research Center for Medical Sciences (IRCMS)
Speaker : Hideki Makishima M.D., Ph.D.
                 Associate Professor, Department of Pathology and Tumor Biology, Kyoto University

Title       : Sequential acquisition of mutations in myelodysplastic syndromes


Abstract:
     Recent progress in next-generation sequencing technologies allows us to discover frequent mutations throughout the coding regions of myelodysplastic syndromes (MDS), potentially providing us with virtually a complete spectrum of driver mutations in this disease. As shown by many study groups these days, such driver mutations are acquired in a gene-specific fashion. For instance, DDX41 mutations are observed in germline cells long before MDS presentation. In blood samples from healthy elderly individuals, somatic DNMT3A and TET2 mutations are detected as age-related clonal hematopoiesis and are believed to be a risk factor for hematological neoplasms. In MDS, mutations of genes such as NRAS and FLT3, designated as Type-1 genes, may be significantly associated with leukemic evolution. Another type (Type-2) of genes, including RUNX1 and GATA2, are related to progression from low-risk to high-risk MDS. Overall, various driver mutations are sequentially acquired in MDS, at a specific time, in either germline cells, normal hematopoietic cells, or clonal MDS cells.

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