A Novel Missense MEN1 Mutation in a Sporadic Case of Multiple Endocrine Neoplasia Type 1 Complicated with Papillary Thyroid Carcinoma

Koji Shibuya; Ken Ebihara; Manabu Takahashi; Tomoyuki Kurashina; Shuichi Nagashima; Kenta Okada; Shun Ishibashi

doi:10.31662/jmaj.2022-0187

A Novel Missense MEN1 Mutation in a Sporadic Case of Multiple Endocrine Neoplasia Type 1 Complicated with Papillary Thyroid Carcinoma

JMA J. 2023 Apr 14;6(2):216-219. doi: 10.31662/jmaj.2022-0187. Epub 2023 Mar 6.

Authors

Koji Shibuya¹, Ken Ebihara¹, Manabu Takahashi¹, Tomoyuki Kurashina¹, Shuichi Nagashima¹, Kenta Okada¹, Shun Ishibashi¹

Affiliation

¹ Division of Endocrinology and Metabolism, Department of Internal Medicine, Jichi Medical University School of Medicine, Shimotsuke, Japan.

Abstract

Multiple endocrine neoplasia type 1 (MEN1) is a rare genetic disorder, resulting from MEN1 gene abnormalities, which causes tumors mainly in the endocrine glands. We experienced a sporadic case of MEN1 complicated with papillary thyroid carcinoma (PTC) and found a novel missense mutation in the patient's MEN1 gene. Her older sister, who showed no typical symptom of MEN1, had a history of PTC, suggesting the presence of another genetic factor involved in PTC development. This case suggests the importance of an individual's genetic background in the development of MEN1 complications.

Keywords: MEN1; missense mutation; papillary thyroid carcinoma.

Publication types

Case Reports