FREDERIC B.ASKINMDWILLIAM H.WESTRAMD
AN ASYMPTOMATIC 9-year-old girl with normal childhood development was referred for DNA sequence analysis of the RET proto-oncogene on chromosome 10. She was the daughter of a woman with multiple endocrine neoplasia syndrome type 2A (MEN-2A). Genetic testing revealed a mutation involving codon 618 of the RET proto-oncogene that changed the wild-type TGC codon to a TCC codon. Her mother and 6-year-old sister carried the identical germline mutation of the RET proto-oncogene. Her serum calcitonin level was 40 ng/L (reference range, 0-4 ng/L). She underwent a total thyroidectomy with central lymph node dissection. Intraoperatively, there was no evidence of cervical lymphadenopathy, and the thyroid gland appeared normal.
Parwani AV, Allan RW, Westra WH, Udelsman R, Ball DW, Argani P. Quiz Case 1. Arch Otolaryngol Head Neck Surg. 2001;127(5):594. doi:10.1001/archotol.127.5.594