YO18 - A patient with Peutz-Jegher syndrome who incidentally found sex cord stromal tumor: a case report

Case summary

Peutz-Jegher syndrome(PJS) , an autosomal dominant disorder with mutation in STK11 gene,is characterized by multiple polyps throughout gastrointestinal tract, and mucocutaneous pigmented lesion. Patient with PJS increase risk of multiple cancers, including breast, GI, and gynecologic cancer.Here, we reported a known case of 18 year-old female patient with PJS who had incidentally diagnosed with metastatic sex cord stromal tumor of ovary. At the age of 6 year-old, she initially presented with mucocutaneous pigmented lesion of oral mucosa, which was biopsied confirmed PJS in 2012, she presented with intussusception and underwent small bowel resection. After recovery, she had been under surveillance endoscopy since then. In 2018,had recurrent abdominal pain. EGD and colonoscopy showed multiple hamartomatous polyps at gastric, small bowel, rectosigmoid colon. Due to large small bowel polyps, she underwent small bowel resection. A 2-cm peritoneal mass at jejunum was found and removed. Post-operative CT-scan demonstrated large bilateral ovarian masses. She subsequently underwent TAH with BSO. The pathological report of both peritoneal and bilateral ovarian masses was consistent with sex cord stromal tumor arising from ovaries (Granulosa cell: Juvenile type).The immunohistochemistry staining was positive for CK, CD 56, Alpha-inhibin, calrethinin, CD99 and WT1. She received systemic chemotherapy with (BEP regimen ;bleomycin, etoposide, cisplatin) for 6 cycles with no evidence of disease. A previous report showed that patients with PJS had 21% lifetime risk of ovarian cancer, which started after the age of 30 yaer-old. Sex cord stromal tumor is considered uncommon ovarian cancer that is associated with PJS. Patients usually present with sign of hormone productions and/or symptom of ovarian mass. Similar to this case ,most patients might present with advanced stage. Though ovarian cancer screening with CA-125 and transvaginal ultrasound had been proposed for PJS patient, none of which is considered standard of care. To date, there is no evidence to support routine screening of ovarian cancer in patients with PJS.

Clinical trial identification

Editorial acknowledgement