Late diagnosis of MEN2A syndrome: Ten cases in one family

#4317

Introduction: Multiple endocrine neoplasia type 2 (MEN2) constitutes a rare hereditary cancer syndrome affecting various endocrine glands.

Aim(s): The frequency of occurrence is approximately 1 in 30,000. We present a clinical case in which this syndrome was identified in 10 individuals in one family.

Materials and methods: A family is presented in which two sisters, their aunt, and their children are affected by MEN2A syndrome. Both sisters died during the examination; the older one from metastatic medullary thyroid carcinoma (MTC) and the younger sister from uncontrolled pheochromocytoma (PHEO). Histological examination of their thyroid glands confirmed MTC. Genetic testing was performed in all 7 children, revealing the variant c.1901GC p.(Cys634Ser) in a heterozygous state at codon 634 in exon 11 of the RET gene, corresponding to a high risk of developing MTC. Six of the children were hospitalised: the oldest underwent thyroidectomy at the age of 23, confirming MTC, with no evidence of recurrence during follow-up. Two children aged 13 and 15 had elevated calcitonin levels and nodular formations on thyroid US (EU-TIRADS-3 and 5). Three other children aged 13, 11, and 10 had normal calcitonin levels but showed focal hyperplasia on US. No signs of hyperparathyroidism or PHEO were found in any patient. All underwent thyroidectomy, and histological examination confirmed MTC.

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Authors: Asanova A, Shutova A, Dzeranova L, Przhiyalkovskaya E, Pigarova E,

Keywords: MEN2A, RET, MTC, THYROIDECTOMY,