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

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.

Effect of Lymphadenectomy on Survival in Early-Stage Type II Endometrial Carcinoma and Carcinosarcoma

Purpose. We aimed to investigate whether systematic pelvic and paraaortic lymph node dissection delivers any survival advantage in a subgroup of patients with type II endometrial carcinoma and carcinosarcoma. Methods. We evaluated 135 patients with clinically early-stage (Stage I-II) type II endometrial carcinoma and carcinosarcoma who underwent systematic pelvic and paraaortic lymph node dissection or who did not undergo any lymph node dissection. Results. Overall survival (OS) and recurrence-free survivals (RFS) were significantly longer in the systematic lymph node dissection group (hazard ratio 0.28, 95% CI 0.13–0.62 p=0.002 for OS and hazard ratio 0.31, 95% CI 0.14–0.69 p=0.004 for RFS). Multivariate analysis showed that lymph node dissection, age, lymph node metastasis, and adjuvant therapy were independent prognostic variables of OS and RFS. Conclusions. Systematic pelvic and paraaortic lymph node dissection independently and significantly prolongs the survival of patients with early-stage type II endometrial carcinoma and carcinosarcoma.

Lymphatic cysts after gynecological cancer surgery: risk factors, diagnosis and treatment

Lymphatic cysts, also known as lymphocele, are one of the most common complications after pelvic and paraaortic lymph node dissection in patients with gynecological cancers. Despite the high incidence of this complication, no specific guidelines on the diagnosis and treatment of lymphocele have been developed so far. This article analyzes the incidence of lymphatic cysts, risk factors, and currently available options for their diagnosis and treatment.