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      저자 : An-Shine Chao (검색결과 1 건)
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      • KCI등재후보

        Comparison of immediate germline sequencing and multi-step screening for Lynch syndrome detection in high-risk endometrial and colorectal cancer patients

        An-Shine Chao,Angel Chao,Chyong-Huey Lai,Chiao-Yun Lin,Lan-Yan Yang,Shih-Cheng Chang,Ren-Chin Wu 대한부인종양학회 2024 Journal of Gynecologic Oncology Vol.35 No.1

        Objective: Lynch syndrome (LS) is a hereditar y cancer predisposition syndrome witha significantly increased risk of colorectal and endometrial cancers. Current standardpractice involves universal screening for LS in patients with newly diagnosed colorectal orendometrial cancer using a multi-step screening protocol (MSP). However, MSP may notalways accurately identif y LS cases. To address this limitation, we compared the diagnosticperformance of immediate germline sequencing (IGS) with MSP in a high-risk group. Methods: A total of 31 Taiwanese women with synchronous or metachronous endometrialand colorectal malignancies under went MSP which included immunohistochemical stainingof DNA mismatch repair (MMR) proteins, MLH1 promoter hypermethylation analysis, andgermline sequencing to identif y pathogenic variants. All patients who were excluded duringMSP received germline sequencing for MMR genes to simulate IGS for the detection of LS. Results: Our findings indicate that IGS surpassed MSP in terms of diagnostic yield (29.0% vs. 19.4%, respectively) and sensitivity (90% vs. 60%, respectively). Specifically, IGS successfullyidentified nine LS cases, which is 50% more than the number detected through MSP. Additionally, germline methylation analysis revealed one more LS case with constitutionalMLH1 promoter hypermethylation, bringing the total LS cases to ten (32.3%). Intriguingly,we obser ved no significant differences in clinical characteristics or overall sur vival betweenpatients with and without LS in our cohort. Conclusion: Our study suggests that IGS may potentially offer a more effective approachcompared to MSP in identif ying LS among high-risk patients. This advantage is evident whenpatients have been pre-selected utilizing specific clinical criteria.

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