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
467P - The free-circulating mtDNA copies number in plasma of patients with NSCLC
Presenter: Olga Bulgakova
Session: Poster display session
Resources:
Abstract
465P - A phase IIIb open-label study of afatinib in EGFR TKI-naïve patients (pts) with EGFR mutation-positive (EGFRm+) NSCLC: Exploratory biomarker analysis
Presenter: Jie Wang
Session: Poster display session
Resources:
Abstract
470P - Prognostic significance of serum biomarkers in small cell lung cancer: A meta-analysis and systematic review
Presenter: Rogelio Velasco
Session: Poster display session
Resources:
Abstract
471P - Chemotherapy in advanced thymic malignancies
Presenter: Ankur Varshney
Session: Poster display session
Resources:
Abstract
466P - Cancer immunotherapy efficacy and patients’ age: A systematic review and meta-analysis
Presenter: Yu Jiang
Session: Poster display session
Resources:
Abstract
506P - Efficacy and safety of pegvorhyaluronidase alfa (PEGPH20; PVHA) and pembrolizumab (pembro) combination therapy in patients (Pts) with stage III/IV non-small cell lung cancer (NSCLC)
Presenter: Jeffrey Ward
Session: Poster display session
Resources:
Abstract
480P - Safety and efficacy of dacomitinib for EGFR+ NSCLC in the subgroup of Asian patients from ARCHER 1050
Presenter: Tony S.K. Mok
Session: Poster display session
Resources:
Abstract
503P - Activity of afatinib in patients (pts) with NSCLC harboring uncommon EGFR mutations: Pooled analysis of three large phase IIIB trials
Presenter: Antonio Passaro
Session: Poster display session
Resources:
Abstract
488P - Randomized trial of prophylactic minocycline for erlotinib-associated skin rash in non-small cell lung cancer (PEARL trial)
Presenter: Kei Kusaka
Session: Poster display session
Resources:
Abstract
495P - Tracking of activating EGFR mutations predicts progression-free survival in advanced EGFR-mutated NSCLC patients treated with osimertinib
Presenter: Anna Buder
Session: Poster display session
Resources:
Abstract