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Multiple Endocrine Neoplasia Type 1 With Adrenal Cortical Adrenocortical Carcinoma: A 25-Year Follow-Up and Family Report

Year: 2024

Type: article

Abstract: Multiple endocrine neoplasia type 1 (MEN1) is a rare autosomal dominant genetic disorder characterized by neoplasia of the parathyroid, pancreatic islets, and anterior pituitary. In this report, we present a family case in which the proband was diagnosed with prolactinoma 25 years ago. During the current hospitalization, the patient was diagnosed with insulinoma, primary hyperparathyroidism, and adrenocortical carcinoma. The final diagnosis was MEN1, confirmed by identifying a heterozygous mutation in the MEN1 gene through genetic testing. The proband's son also tested positive for the same MEN1 gene mutation, although he exhibited no clinical symptoms. MEN1 associated with adrenocortical carcinoma is exceptionally rare, carries a high malignancy risk, and has a poor prognosis. Genetic testing for the MEN1 gene is crucial for accurate diagnosis, while family screening is beneficial for early detection, timely treatment, and improving patient outcomes.

Source: JCEM Case Reports

DOI: 10.1210/jcemcr/luae248

Authors: Mei Yang, Sha Li, Xiao Wei Zhong

Institution: Third People's Hospital of Chengdu

Language: English

Topic: Neuroendocrine Tumor Research Advances

Subfield: Epidemiology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $1,300