Clinical significance of RET mutation screening in a pedigree of multiple endocrine neoplasia type 2A

Abstract

Abstract. The clinical characteristics and RET proto-oncogene (RET-PO) mutation status of a patient with multiple endocrine neoplasia type 2A pedigree (MEN2A) was analyzed with the aim of preliminarily exploring the molecular mechanisms and clinical significance of the disease. Clinical characteristics of a single MEN2A patient were analyzed. Genomic DNA was extracted from the peripheral blood of the proband and 10 family members. The 21 exons of RET-PO were PCR amplified and the amplified products were sequenced. Of the family members, 5 exhibited a C634Y (TGC→TAC) missense mutation in exon 11 of RET-PO, among which 2 family members were screened as mutation carriers, while the others did not exhibit clinical symptoms of the mutation. The screening and analysis of RET-PO mutations for the MEN2A proband and the family members suggests potential clinical phenotypes and enables assessment of the risk of disease development, thus providing useful information for determining the surgical timing of preventive thyroid gland removal.

Multiple endocrine neoplasia 2A (MEN 2A) syndrome

“…Additionally, a small number of patients exhibit skin lichen amyloidosis or Hirschsprung´s disease (Ying a Feng, 2016).…”

A narrative review of multiple endocrine neoplasia syndromes: genetics, clinical features, imaging findings, and diagnosis

“…A tenth of MEN2A families has cutaneous lichen amyloidosis, which is often related to exon 11 (13). Genetic testing of RET can confirm the diagnosis and predict the potential phenotype, which can guide clinical management (14,15). Hierarchical gene management of MEN2-related MTC can greatly facilitate the improvement of prognosis.…”