A novel germline mutation in hMLH1 in three Korean women with endometrial cancer in a family of Lynch syndrome: case report and literature review

Hereditary Cancer in Clinical Practice

Hye Ryoun Kim¹  Youn-Joon Jung²  Eun-Ju Lee²  Mi Kyung Kim³ 

[1] Department of Laboratory Medicine, Chung-Ang University College of Medicine;Department of Obstetrics and Gynecology, Chung-Ang University College of Medicine;Department of Pathology, Chung-Ang University College of Medicine;

关键词: Lynch syndrome;    C.1367delC mutation;    Endometrial cancer;    MLH1;    Korea;   

DOI  :  10.1186/s13053-021-00185-y

来源: DOAJ

【 摘 要 】

Abstract Background Endometrial cancer is often the sentinel cancer in women with Lynch syndrome, among which endometrioid endometrial cancer is the most common. We found a Korean case of uterine carcinosarcoma associated with Lynch syndrome. And we reviewed 27 Korean women with endometrial cancer associated with Lynch syndrome already released in case report so far. Case presentation The proband, a 45-year-old Korean woman received treatment for endometrioid adenocarcinoma. Her older sister and niece were treated for endometrioid adenocarcinoma and carcinosarcoma, respectively. Family history met the Amsterdam II criteria and immunohistochemical analysis revealed a loss of MLH1 and PMS2. They all harbored a previously unreported germline likely pathogenic variant in c.1367delC in MLH1. They underwent staging operations including total hysterectomy, bilateral salpingo-oophorectomy, pelvic/paraaortic lymph node dissection, and washing cytology. All three women were healthy without evidence of relapse for over 4 years. Conclusion This report indicates a novel germline c.1367delC variant in MLH1, and presents a Korean case of uterine carcinosarcoma associated with Lynch syndrome. Furthermore, the c.1757_1758insC variant in MLH1 was suggested as a founder mutation in Lynch syndrome in Korean women.

【 授权许可】

Unknown