Abstract YO18
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
Resources from the same session
64P - Entrectinib in locally advanced/metastatic ROS1 and NTRK fusion-positive non-small cell lung cancer (NSCLC): Updated integrated analysis of STARTRK-2, STARTRK-1 and ALKA-372-001
Presenter: Filippo de Braud
Session: Poster display session
Resources:
Abstract
65P - Updated efficacy and safety of entrectinib in patients with NTRK fusion-positive tumours: Integrated analysis of STARTRK-2, STARTRK-1 and ALKA-372-001
Presenter: Christian Rolfo
Session: Poster display session
Resources:
Abstract
66P - Brain metastases, treatment patterns and outcomes in ROS1-positive NSCLC patients from US oncology community centers
Presenter: Matthew Krebs
Session: Poster display session
Resources:
Abstract
67P - Pooled safety analysis of tepotinib in Asian patients with advanced solid tumours
Presenter: Kentaro Yamazaki
Session: Poster display session
Resources:
Abstract
68P - A novel anti-EGFR antibody HLX07 for potential treatment of squamous cell carcinoma of the head and neck
Presenter: Ming Mo Hou
Session: Poster display session
Resources:
Abstract
69P - Irinotecan and cisplatin therapy-induced neutropenia as a prognostic factor in patients with extensive-disease small cell lung cancer
Presenter: Hiroshi Ishikawa
Session: Poster display session
Resources:
Abstract
70P - Is safe and efficient by intraoperative endoscopic nasobiliary drainage over primary closure of the common bile duct for cholecystolithiasis combined with common bile duct stones: A meta-analysis
Presenter: Jiasheng Cao
Session: Poster display session
Resources:
Abstract
71P - Irreversible electroporation versus radiotherapy after induction chemotherapy on survival in patients with locally advanced pancreatic cancer: A propensity score analysis
Presenter: Chaobin He
Session: Poster display session
Resources:
Abstract
72P - Novel technique of near-focus mode for accurate operation during endoscopic submucosal tunneling procedure: A two-center comparative study
Presenter: Wei Peng
Session: Poster display session
Resources:
Abstract
73P - Cabozantinib in combination with anti-PD1 immune checkpoint inhibitor in syngeneic tumour mouse models
Presenter: Rachel Sparks
Session: Poster display session
Resources:
Abstract