Abstract
Peutz-Jeghers syndrome is an autosomal dominant condition characterized by the association of hamartomatous polyps in the digestive tract, mucocutaneous pigmentation, family history, and infrequently tumors of the female genital tract with one of the most characteristic being the gastric-type endocervical adenocarcinoma. We present the case of a 75-year-old woman with a history of gastrointestinal polyps and cancer of the pancreas and breast, diagnosed with Peutz-Jeghers syndrome, who clinically debuted with a primary adnexal tumor. However, on histologic examination it was found to be a gastric-phenotype primary mucinous carcinoma tubal in origin, associated to tubal mucinous metaplasia and secondary ovarian involvement. One of her daughters had a confirmed genetic diagnosis of Peutz-Jeghers syndrome and presented with mucinous metaplasia of the tubal mucosa in the pathological study of a prophylactic hysterectomy specimen. Another of her daughters died from an ovarian juvenile granulosa cell tumor, she did not have a genetic diagnosis of Peutz-Jeghers syndrome. This case intends to highlight the rarity of gastrointestinal-type mucinous carcinomas of the ovary and fallopian tube (similar to gastric-type endocervical adenocarcinoma) in Peutz-Jeghers syndrome and emphasize the importance of genetic counseling of these patients as well as the adequate sampling of surgical specimens for early detection and treatment.
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