SAT-LB060 Clinical Presentation and Management of Primary Ovarian Carcinoids in Multiple Endocrine Neoplasia Type 1

Abstract

Introduction MEN1 is an autosomal dominant condition characterized by parathyroid, anterior pituitary and enteropancreatic endocrine cell tumors. Carcinoids occur in 5-15% patients, majority of which are of foregut origin (thymus, bronchus, stomach and duodenum). Only 1 case of ovarian carcinoid has been reported in association with MEN1, and was not confirmed with genetic testing. Case report A 33-year-old female with a macroprolactinoma and primary hyperparathyroidism was referred to us with a presumptive diagnosis of MEN1. Genetic testing showed a heterozygous germline mutation in the MEN1 gene, c.219_220delCG (frameshift leading to premature protein truncation). She had no family history consistent with MEN1. EGD showed two submucosal nodules in the duodenum with confirmed histology of gastrinomas. CT demonstrated 8.7 x 7.7 cm right adnexal mass containing foci of soft tissue density and calcification. Laparoscopic resection was attempted but the mass was too large to be delivered en-bloc. Operative approach was changed to a minilaparotomy and the mass was delivered in a piecemeal fashion. Pathology demonstrated a benign dermoid cyst with neuroendocrine tumor consistent with carcinoid extending into peri-ovarian tissues. 4 years later, she presented with a lower abdominal palpable mass. CT showed an irregular, avidly enhancing 11.7 x 8.7 cm pelvic mass, extending through the anterior abdominal wall into the subcutaneous fat with satellite lesions within the anterior subcutaneous abdomen. The CT abnormalities corresponded to abnormally elevated In-111 pentetreotide uptake. Biopsy of one of the subcutaneous lesions showed metastatic neuroendocrine neoplasm with Ki67 index of 2%. Targeted genetic analysis for the patient’s MEN1 mutation using DNA samples isolated from the primary adnexal mass as well as the recurrent abdominal wall tumor demonstrated predominantly mutant sequence in both specimens, confirming LOH at the MEN1 gene locus. 5 months later, the patient presented with obstructive uropathy from nodal metastases. She underwent debulking surgery via exploratory laparotomy, panniculectomy, resection of metastatic abdominal wall tumors and abdominal wall reconstruction. Post operatively, FDG-PET scan showed few scattered disease foci. She was commenced on monthly octreotide injections. Conclusions This case represents to our knowledge, the first genetically confirmed case of ovarian carcinoid arising by a MEN1 mechanism. Ovarian carcinoid should be considered as a differential in MEN1 patients with adnexal mass. Extreme caution should be exercised during surgical resection, as failure to remove an ovarian carcinoid en masse can result in peritoneal seeding and recurrence. For patients with advanced disease, systemic therapy options include somatostatin receptor analogs, peptide receptor radioligand therapy, and novel agents targeting mTOR and VEGF. Unless otherwise noted, all abstracts presented at ENDO are embargoed until...