Gastric-phenotype Mucinous Carcinoma of the Fallopian Tube with Secondary Ovarian Involvement in a Woman with Peutz-Jeghers Syndrome: A Case Report

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.

Gastric‐type glandular lesions of the female genital tract excluding the cervix: emerging pathological entities

“…One was associated with tubal mucinous metaplasia and ovarian metastasis and arose in a patient with Peutz-Jeghers syndrome. 79 The other was also associated with mucinous metaplasia in the same tube as well as a mucinous borderline tumour in one ovary and a benign mucinous cystadenoma in the other. 80 It is also stressed that primary cervical gastric-type adenocarcinomas have a propensity to exhibit adnexal spread.…”

“…There have also been occasional case reports of primary fallopian tube gastric‐type mucinous carcinomas. One was associated with tubal mucinous metaplasia and ovarian metastasis and arose in a patient with Peutz–Jeghers syndrome 79 . The other was also associated with mucinous metaplasia in the same tube as well as a mucinous borderline tumour in one ovary and a benign mucinous cystadenoma in the other 80 .…”

Ovarian Mucinous Tumor Presenting Atypical Lobular Endocervical Glandular Hyperplasia-Like Appearance in a Patient With Germline STK11 p.F354L Variant: A Case Report

“…1 In the female genital tract, various entities are reportedly associated with PJS, such as minimal deviation adenocarcinoma/gastric-type adenocarcinoma of the uterine cervix, 3,4 lobular endocervical glandular hyperplasia (LEGH), 4 sex cord tumors with annular tubules, 5 Sertoli cell tumor of the ovary, 6,7 and mucinous metaplasia of the fallopian tube and endometrium. 8 Although a few ovarian/tubal mucinous tumors showing a gastric phenotype in patients with PJS have been reported, 9,10 the details remain unclear.…”