RESUMO
Background: Multiple endocrine neoplasia type 2A [MEN2A] is a rare cancer associated-syndrome, inherited in an autosomal dominant fashion and caused by germline mutation in RET proto-oncogene
Clinical diagnosis depends on the manifestation of two or more certain noma; endocrine tumors in an individual, such as medullary thyroid carcinoma, pheochromocytoma, MEN2A; and parathyroid adenoma or hyperplasia. Prophylactic total thyroidectomy with central neck Pheochromocytoma; lymph node dissection is mandatory for mutation carriers, with periodic monitoring of the other RET proto-oncogene concerned organs
Subjects and methods: We have screened 27 individuals from a large Arab family with multiple affected members. Mutational screening involved the hotspot regions in the most commonly implicated exons 10 and 11 of RET proto-oncogene using PCR amplification of the coding and the flanking intronic regions followed by the Sanger sequencing
We aimed for confirmation of the clinical diagnosis and identification of at-risk asymptomatic mutation carriers
Results: A pathogenic variant C.1901G > T [p.Cys634Phe], in exon 11 of RET proto-oncogene was identified in 15 members of different ages.
Conclusion: Genetic counseling plays a key role in the management of such high-risk families and hence helps in avoiding or reducing disease recurrence in their future generations