A rare case of cervical gastric-type adenocarcinoma mimicking bilateral ovarian malignancy in a genetically confirmed Peutz-Jeghers syndrome without known polyposis

Abstract

Abstract Introduction/Objective Cervical gastric-type adenocarcinoma (GAS) is rare and accounts for 2-4% of cervical cancer. GAS is usually sporadic but can be associated with Peutz-Jeghers syndrome (PJS), a rare autosomal dominant disorder caused by germline STK11 mutations and characterized by hamartomatous polyposis in the gastrointestinal (GI) tract, mucocutaneous pigmentation, and cancer predisposition. Although cases of GAS may occur in patients with PJS associated with polyposis, our patient with GAS has an unusual and perhaps unique association with the PJS mutation that is unassociated with polyposis. Methods/Case Report A 33-year-old female presented with abdominal pain, abnormal uterine bleeding, vaginal discharge, weight loss, and fatigue for one year. Pigmentations were noted on lips, gum, tongue, and hands. She had a family history of maternal ovarian and pancreatic cancers. Computerized tomography revealed large bilateral multiloculated complex cystic adnexal masses, thickened endometrium extending into the endocervix, and ascites. Tumor markers showed increased CA19-9 and CA125, suggesting either a primary ovarian malignancy or possible metastatic GI tract cancer to both ovaries. Her PAP smear demonstrated atypical glandular cells that favored endocervical origin. HPV was not detected. A cervical biopsy showed bland gastric-type glands without obvious stromal invasion. Given the clinical concern for malignancy, a cervical cone biopsy was performed, demonstrating unequivocal invasion by gastric-appearing glands. The tumor cells were positive for CK7, CEA, and PAX8, and were negative for CK20, CDX2, and p16. The pathologic diagnosis confirmed a primary GAS with a spread to bilateral ovaries. Although the upper GI tract and left colon were free of polyps or masses by endoscopic exam, the genetic evaluation revealed a germline heterozygous STK11 mutation consistent with PJS. Results (if a Case Study enter NA) NA Conclusion To our knowledge, this is the first case of occult PJS (confirmed by genetic analysis) presenting with widely advanced metastatic GAS without known polyposis.