A germline c.1546dupC MEN1 mutation in an MEN1 family: A case report.

ABSTRACT:

Rationale

Multiple endocrine neoplasia type 1 (MEN1) is a rare tumor syndrome with an autosomal dominant inheritance, and genetic testing for MEN1 gene is important for both affected individuals and their relatives. We present a 2-person family affected by a germline c.1546dupC MEN1 mutation, and one of them had a full-spectrum of MEN-related endocrine tumors.

Patient concerns

A female patient aged 32 years presented with jejunal ulcer perforation due to gastrinoma.

Diagnoses

We conducted genetic analysis and extensive biochemical/radiological evaluation for detecting other endocrine tumors. Multiple pancreatic neuroendocrine tumors (NETs), prolactinoma and primary hyperparathyroidism were diagnosed, and a frame-shift mutation, NM_130799.1:c.1546dupC (p.Arg516Profs∗15

SUBMITTER: Cho YY 

PROVIDER: S-EPMC8238345 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature