Analysis of Genomic Predispositions to Sporadic Myeloid Neoplasms Mediated By DDX41 in Japan

In conclusion, we identified DDX41 germline risk variants among the Japanese population. Germline DDX41 variants were seen in a substantial fraction of Japanese patients with sporadic myeloid neoplasms. Found in the general Japanese population at very low frequencies, these risk alleles account for the largest germline risk for myeloid neoplasms. Somatic DDX41 mutations were common with a prominent mutational hotspot, almost exclusive found in patients with DDX41 risk alleles. Given the high prevalence of DDX41 germline variants and the late onset of associated MDS and sAML, their detection may help better manage patients and carriers who carried DDX41 risk alleles, even when no family history is known.Figure.DisclosuresIshiyama: Alexion Pharmaceuticals, Inc.: Honoraria. Chiba: Bristol Myers Squibb, Astellas Pharma, Kyowa Hakko Kirin: Research Funding. Asou: Chugai Pharmaceutical Co., Ltd.: Research Funding; Astellas Pharma Inc.: Research Funding; Sumitomo Dainippon Pharma Co., Ltd.: Research Funding; Asahi Kasei Pharma Co., Ltd.: Research Funding; Eisai Co., Ltd.: Research Funding; SRL Inc.: Consultancy; Yakult Honsha Co., Ltd.: Speakers Bureau; Kyowa Hakko Kirin Co., Ltd.: Speakers Bureau. Naoe: Otsuka Pharmaceutical Co., Ltd.: Research Funding; Toyama Chemical Co., Ltd.: Research Funding; Nippon Shinyaku Co., Ltd.: Research Funding; Pfizer Japan Inc.: Research Funding; Astellas Pharma Inc.: Research Funding; Fujifilm Corporation: Patents & Royalties, Research Funding. ...

Source: Blood - November 21, 2018 Category: Hematology Authors: Takeda, J., Yoshida, K., Yoshizato, T., Shiraishi, Y., Okuno, Y., Kon, A., Kataoka, K., Chiba, K., Tanaka, H., Sanada, M., Ishiyama, K., Chiba, S., Asou, N., Miyazaki, Y., Naoe, T., Usuki, K., Miyawaki, S., Kamatani, Y., Momozawa, Y., Nagasaki, M., Miyano Tags: 637. Myelodysplastic Syndromes-Clinical Studies: Poster III Source Type: research