In:
Frontiers in Endocrinology, Frontiers Media SA, Vol. 14 ( 2023-7-7)
Abstract:
Multiple Endocrine Neoplasia type 1 is a rare genetic syndrome mainly caused by mutations of MEN1 gene and characterized by a combination of several endocrine and non-endocrine manifestations. The objective of this study was to describe cutaneous lesions and other non-endocrine manifestations of MEN1 in a cohort of patients with familial (F) and sporadic (S) MEN1 , compare the prevalence of these manifestations between the two cohorts, and investigate the correlation with MEN1 mutation status. Methods We collected phenotypic and genotypic data of 185 patients with F- MEN1 and S- MEN1 followed from 1997 to 2022. The associations between F- MEN1 and S- MEN1 or MEN1 mutation-positive and mutation-negative patients and non-endocrine manifestations were determined using chi-square or Fisher’s exact tests or multivariate exact logistic regression analyses. Results The prevalence of angiofibromas was significantly higher in F- MEN1 than in S- MEN1 in both the whole (p & lt; 0.001) and index case (p = 0.003) cohorts. The prevalence of lipomas was also significantly higher in F- MEN1 than in S- MEN1 (p = 0.009) and in MEN1 mutation-positive than in MEN1 mutation-negative (p = 0.01) index cases. In the whole cohort, the prevalence of lipomas was significantly higher in MEN1 mutation-positive compared to MEN1 mutation-negative patients (OR = 2.7, p = 0.02) and in F- MEN1 than in S- MEN1 (p = 0.03), only after adjustment for age. No significant differences were observed for the other non-endocrine manifestations between the two cohorts. Hibernoma and collagenoma were each present in one patient (0.5%) and meningioma and neuroblastoma in 2.7% and 0.5%, respectively. Gastric leiomyoma was present in 1.1% of the patients and uterine leiomyoma in 14% of women. Thyroid cancer, breast cancer, lung cancer, basal cell carcinoma, melanoma, and colorectal cancer were present in 4.9%, 2.7%, 1.6%, 1.6%, 2.2%, and 0.5% of the whole series, respectively. Conclusions We found a significantly higher prevalence of angiofibromas and lipomas in F- MEN1 compared with S- MEN1 and in MEN1 mutation-positive compared to MEN1 mutation-negative patients. In patients with one major endocrine manifestation of MEN1 , the presence of cutaneous lesions might suggest the diagnosis of MEN1 and a possible indication for genetic screening.
Type of Medium:
Online Resource
ISSN:
1664-2392
DOI:
10.3389/fendo.2023.1191040
Language:
Unknown
Publisher:
Frontiers Media SA
Publication Date:
2023
detail.hit.zdb_id:
2592084-4
