A tumor of the uterine cervix with a complex histology in a Peutz–Jeghers syndrome patient with genomic deletion of the STK11 exon 1 region

Author:

Kobayashi Yusuke1,Masuda Kenta2,Kimura Tokuhiro3,Nomura Hiroyuki2,Hirasawa Akira2,Banno Kouji2,Susumu Nobuyuki2,Sugano Kokichi4,Aoki Daisuke2

Affiliation:

1. Department of Obstetrics & Gynecology, School of Medicine, Keio University, Tokyo, Japan.

2. Department of Obstetrics & Gynecology, School of Medicine, Keio University, Tokyo, Japan

3. Department of Pathology, School of Medicine, Keio University, Tokyo, Japan

4. Oncogene Research Unit/Cancer Prevention Unit, Tochigi Cancer Center Research Institute, Tochigi, Japan

Abstract

ABSTRACT Patients with Peutz–Jeghers syndrome (PJS) have a risk of complicating malignant tumors, including cancer of the uterine cervix. Mutations in the STK11 gene have been identified as being responsible for PJS. However, the genotype–phenotype correlation in PJS is poorly understood, especially with respect to malignant tumors. Here, we report a detailed analysis of a case of a cervical tumor in a PJS patient showing a large genomic deletion in exon 1 of STK11 without human papillomavirus infection. Histological examination revealed a complex histology consisting of three components: lobular endocervical gland hyperplasia (LEGH), minimal deviation adenocarcinoma (MDA) and mucinous adenocarcinoma. Immunohistochemistry for STK11 was positive in the LEGH and MDA components, while that of the mucinous adenocarcinoma stained very faintly. These findings support a close relationship among LEGH, MDA and mucinous adenocarcinoma and imply that inactivation of STK11 may occur during progression from MDA to mucinous adenocarcinoma.

Publisher

Future Medicine Ltd

Subject

Cancer Research,Oncology,General Medicine

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