Germline mutations in multiple endocrine neoplasia; a summary of Thai case reports

Multiple endocrine neoplasia (MEN) is an important medical disorder characterizing by several endocrine gland abnormalities. There are various types of MEN and some types has parathyroid gland involvement. The MEN۱ and MEN۲A are the two main types of MEN that parathyroid gland abnormalities are observable (۱). The underlying genetic factors of MEN is an interesting issue. There are few data on this aspect. In Thailand, a tropical country in Southeast Asia, the MEN is sporadically reported and the examination of underlying genetic mutations in cases with MEN is little mentioned. In this specific short study, the authors summarize and review the data reported in publications from Thailand on MEN۱ (Wermer’s syndrome) and MEN۲A (Sipple syndrome) (۱) According to the literature search in international databases (PubMed and SCOPUS) and local Thai referencing databases (Thai Index Medicus and TCI), there are only four reports on genetic mutations seen in Thai patients with MEN۱ and MEN۲A. According to the collected data, there are ۴ reports on ۲ MEN۱ and ۹ MEN۲A cases (۲-۵). Focusing on germline mutations, the heterozygous for IVS۶ + ۱G to A ss seen in one case and the deletion mutation at exon ۱۰ (۱۷۹۳delG) is seen in other case. Focusing on MEN۲A cases, missed sense mutation mutations are identified at codon ۶۳۴ exon ۱۱ p.Cys۶۳۴Tyr, p.Cys۶۳۴Arg and p.Cys۶۳۴Trp in ۵, ۲ and one cases and the left other case has heterozygous for ۱۹۰۰T>C (C۶۳۴R). Here, it can show that various underlying genetic mutations contributing to MEN۱ and MEN۲A exist in Thailand.

Keywords:

Parathyroid glands , Germline mutations , Multiple endocrine neoplasia