Novel MSH2 Mutation in the First Report of a Vietnamese–American Kindred with Lynch Syndrome

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 Case Histories: Proband Medical History
Patient #1 is a 57 year-old female who fled Vietnam in 1980. In
February 2010 she was found to have an 8 cm complex right adnexal
mass on ultrasound. She did not report any postmenopausal vaginal
bleeding or gastrointestinal symptomatology. A pre-operative computed
tomography (CT) scan demonstrated the pelvic mass and a mid-colonic
lesion. The patient underwent open hysterectomy, bilateral salpingo-oophorectomy,
omentectomy, pelvic/para-aortic lymphadenectomy and transverse colectomy with primary anastomosis. Pathology was consistent with 3 synchronous lesions: FIGO stage IA grade 1 endometrial carcinoma, FIGO IC clear cell ovarian carcinoma, and stage I adenocarcinoma of the colon. She received adjuvant platinum- plus taxane-based intravenous chemotherapy.
In October 2012, the proband's sister Patient #2 reported menorrhagia
and was diagnosed with grade 2 endometrioid adenocarcinoma. She
was referred to the same Gynecologic Oncologist that cared for her
sister and provided a more detailed family history (colon cancer in her
brother (age 49) and maternal pancreatic cancer (deceased age 48).
She underwent a robotic hysterectomy with bilateral salpingooophorectomy
and lymphadenectomy. Final pathology revealed a FIGO stage IA, grade 2 endometrioid adenocarcinoma with no lymphovascular space invasion. IHC screening of the tumor for MLH1, MSH2, MSH6, and PMS2 was positive for LS. Both sisters and their brother were referred for genetic counseling.