OBJECTIVE: Multiple endocrine neoplasia 2 (MEN2) is an autosomal dominant disorder characterized by medullary thyroid carcinoma (MTC), pheochromocytoma, and hyperparathyroidism, with mutations at codon 634 in exon 11 of the RET (REarranged during Transfection) proto-oncogene identified as the most common genetic defect.
METHODS: We present a patient diagnosed with a left adrenal pheochromocytoma at a young age in whom we identified a mutation at codon 635 of the RET gene. No MTC has been clinically detected during a 6-year follow-up.
RESULTS: The C-to-T point mutation at nucleotide c.1903 results in an additional cysteine in the cysteine-rich domain due to the replacement of arginine with cysteine. One of the patient's 2 children has the same sequence variant in the RET proto-oncogene and has remained unaffected during follow-up.
CONCLUSIONS: The majority of mutations in this disorder affect cysteine residues in the cysteine-rich region of the extracellular domain of the RET protein, disrupting normal cysteine pairing. Consequently, we consider that this variant is likely of pathogenic significance, but this has not been unequivocally confirmed.
|Journal||Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists|
|Publication status||Published - Apr 2014|