講演情報

[P15-9]ゲノム外来における難治性固形がんに対するMSI検査の結果と施行体制

稲垣 裕一郎1, 根岸 修人1, 小原 史也1, 茂木 健太1, 若林 浩也1, 澤 ひとみ1, 宮尾 康太郎1, 有馬 順子2, 澤 正史1 (1.安城更生病院 血液・腫瘍内科, 2.安城更生病院 看護部)
<Background><BR>Microsatellite instability (MSI) surveillance suggests the deficiency of DNA repairing system and referred as screening of Lynch syndrome. And the cases of solid tumor with MSI-High(MSI-H) are expected the efficacy of pembrolizumab therapy. The appropriate surveillance and counseling are essential. We reviewed the system and result of MSI surveillance in our institute.<BR><Cases and methods> <BR>We perform genetic testing and genomic counseling for the clients integrally with clinical oncologist and medical geneticist in department of oncology. We submitted 271 surveillances of MSI for the cases of relapsed or refractory solid tumor from April 2019 to May 2022. <BR><Result> <BR>The 16 cases of MSI-H were detected. The cases consists from 4 cases of colon cancer, 3 cases of endometrial cancer, 2 cases of stomach and pancreas cancer and unknown primary, a case of bile duct, ileum and cervical cancer. The quickness and accessibility for genetic testing should be compatible. The attending doctor explain and confirm the agreement for the surveillance. We provide genetic counseling for the clients as both clinical oncologist and medical geneticist. The 4 clients provided counseling with their agreement. A client was diagnosed with detection of pathogenic variant. We can provide genetic counseling all clients at the desired time. We expect to assist the clients to understand the significance of the genetic testing appropriately. <BR><Conclusion><BR>We provide MSI surveillance and counseling appropriately in our institute.