A Pyloric Gland-Phenotype Ovarian Mucinous Tumor Resembling Lobular Endocervical Glandular Hyperplasia in a Patient with Peutz-Jeghers Syndrome

Abstract

We describe an ovarian mucinous neoplasm that histologically resembles lobular endocervical glandular hyperplasia (LEGH) containing pyloric gland type mucin in a patient with Peutz-Jeghers syndrome (PJS). Although ovarian mucinous tumors rarely occur in PJS patients, their pyloric gland phenotype has not been clearly determined. The histopathologic features of the ovarian mucinous tumor were reminiscent of LEGH. The cytoplasmic mucin was stained with periodic acid-Schiff reaction after diastase treatment but was negative for Alcian blue pH 2.5, suggesting the presence of neutral mucin. Immunohistochemically, the epithelium expressed various gastric markers, including MUC6, HIK1083, and carbonic anhydrase-IX. Multiple ligation-dependent probe amplification detected a germline heterozygous deletion mutation at exons 1–7 of the STK11 gene (c.1-?_920+?del) in peripheral blood leukocytes and mosaic loss of heterozygosity in ovarian tumor tissue. Considering that LEGH and/or gastric-type cervical adenocarcinoma can be found in patients with PJS carrying germline and/or somatic STK11 mutations, our case indicates that STK11 mutations have an important role in the proliferation of pyloric-phenotype mucinous epithelium at various anatomical locations.

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

“…In fact, most publications on mucinous change in the Fallopian tubes are related to patients with Peutz-Jeghers syndrome as in the case of our patient and her daughter. 8 In our case, we did not find evidence of a precursor lesion of cervical or uterine origin . The fact that the patient had mucinous metaplasia in both Fallopian tubes supported the tubal origin of the tumor.…”

“…We have only found mention of four mucinous cystadenomas, one borderline mucinous tumor and two cases of an ovarian mucinous tumor with gastric differentiation that respectively resembled endocervical glandular hyperplasia and adenoma. 2,4,8–10…”

“…We have only found mention of four mucinous cystadenomas, one borderline mucinous tumor and two cases of an ovarian mucinous tumor with gastric differentiation that respectively resembled endocervical glandular hyperplasia and adenoma. 2,4,[8][9][10] The mechanism by which a mutation in SKT11 induce neoplasia is not fully elucidated. To date, two possible carcinogenic pathways have been proposed in Peutz-Jeghers syndrome: de novo appearance and hamartomaadenoma-carcinoma sequence.…”

The developing spectrum of gastric-type cervical glandular lesions

“…54 Recently, an ovarian mucinous tumour resembling LEGH and with a pyloric gland immunophenotype has been described in a patient with PJS and the authors suggested that STK11 mutation may play a role in the development of pyloric-type mucinous lesions at various anatomical locations. 57 One of us (WGM) has seen a similar ovarian mucinous neoplasm admixed with a SCTAT in a patient with PJS. There are currently no recommended gynaecological screening or clinical surveillance guidelines for PJS patients.…”

“…All these lesions and the patient's multiple hamartomatous polyps in the jejunum showed a pyloric phenotype, 33 supporting the proposed association of STK11 mutation with multifocal mucinous proliferations of pyloric type. 57 Although multiple mucinous lesions in the female genital tract are postulated to represent synchronous independent proliferations, in some cases it may be difficult to distinguish between synchronous and metastatic lesions. For example in a patient with a morphologically well differentiated cervical GAS and a bland ovarian mucinous neoplasm, it may be difficult or impossible to determine whether the ovarian lesion is a primary neoplasm or a bland metastasis.…”