RESUMO
Lynch syndrome, also called hereditary non-polyposis colorectal cancer, is an autosomal dominant disorder characterized by germline pathogenic mutations in DNA mismatch repair genes-resulting in increased susceptibility to colorectal, endometrial, and other tumors. This case report presents an incidental finding of endometrial cancer with Lynch syndrome during investigation for primary infertility. A 34-year-old woman presented to the fertility clinic with unexplained primary infertility. Investigations showed possible endometrial polyp, 13 × 11 mm in size. Hysteroscopic polypectomy and endometrial biopsy revealed complex endometrial hyperplasia amounting to endometroid adenocarcinoma. The case was discussed at the West of Scotland Gynecology-Oncology MDT meeting-management options including fertility-sparing treatment or radical surgery were presented to the patient and she opted for the latter. A total laparoscopic hysterectomy with bilateral salpingo-oophorectomy was performed with pathology results consistent with well-differentiated endometroid adenocarcinoma Stage 1A. Peritoneal washings showed no malignant cells. Genetic testing confirmed a diagnosis of Lynch syndrome. On further questioning, it was revealed that the patient had a strong family history of colon cancer but had not previously met the criteria for genetic testing. She was referred to colorectal surgeons and underwent colonoscopy. This showed no abnormality; she was therefore scheduled for 2-yearly colonoscopic surveillance.
RESUMO
PURPOSE: The objective of our study was to identify the number of women who have long-term ano-rectal symptoms following primary repair of obstetric anal sphincter injury (OASI) and the effect on their quality of life. We also wished to determine the impact of the injury on decision for future pregnancies and mode of delivery in subsequent pregnancies. METHODS: A cohort of women who sustained OASI in 2004 in Ninewells Hospital were contacted (minimum 4 years post-repair). They were sent a questionnaire about incontinence of flatus, solid stools, liquid stools, severity of incontinence, quality of life, decision for future pregnancy and mode of delivery in subsequent pregnancy. RESULTS: 70/4,245 (1.7%) women sustained OASI. 42/70 (60%) women responded to the questionnaire. 15/41 (37%) experienced anal incontinence. 8/15 (53%) women had to alter their lifestyle due to their symptoms. Women who were asymptomatic had a median visual analogue score of 0.5 (range 0-4) and women who were symptomatic had a median score of 3.5 (range 2-8). 12/41 (29%) decided against further pregnancies and 8 of them were symptomatic (p 0.015). 16/41 women (39%) did not have any further pregnancy following OASI and 9 of them (56%) had anal incontinence. Of the 25 women who did have further pregnancies, 6 women (24%) had anal incontinence. 19 of them were asymptomatic. (p = 0.03). 5 out of the 6 symptomatic women had elective caesarean sections. CONCLUSIONS: Long-term outcomes following OASI are not encouraging. A significant number of women decided against further pregnancy and most symptomatic women that have further pregnancy opt to deliver by caesarean section.
