Mutation Study of RET Proto-oncogene in Multiple Endocrine Neoplasia 2A of Three Thai Families
DOI:
https://doi.org/10.14456/jdms.2023.28Keywords:
MEN2A, RET mutation, ThaiAbstract
Background: Multiple endocrine neoplasia type 2A (MEN 2A) is an inherited disease caused by germlinemutations in the RET proto-oncogene, leading to the development of endocrine neoplasia. The prognosis dependson the appearance and spread of medullary thyroid carcinoma (MTC). Identifying at-risk relatives before the disease’sclinical signs, or biochemical parameters become evident for precision medicine. Objective: To study RET mutationin MEN2A in three family members of Thai descent in Rajavithi Hospital. Method: Three families with MEN2A (22 samples) were examined. Peripheral blood DNA was amplified by polymerase chain reaction. Melting Curveanalysis was performed to detect the mutation of RET proto-oncogene exon 11 by specific primer Real-time PCRtechnique. Molecular analysis was carried out in three index patients and 22 relatives of MEN2A patients. Result: Molecular investigations showed a mutation at codon 634 and exon 11 in all MEN 2A patients. In 3 MEN2A Families,9 out of 22 relatives were C34R mutation (TCG->CGC) and C634Y mutation (TGC-> TAC). C634R mutation in a 14-year-old boy is essential evidence for prophylaxis thyroidectomy, confirmed by histopathology examination. Conclusion: The presence of RET C634R in the family member is essential evidence of thyroidectomy toprophylaxis MTC. RET mutation of this study is helpful for future screening and management of MEN2A families. Theindividual physician’s decision-making or the wishes of the patient or the patient’s family, according to 634 codonmutation, should be screening for pheochromocytoma and management following by stand treatment if they havebiochemical evidence and following the screening of medullary thyroid carcinoma and parathyroid disease.
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