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Pathology Forum
May 2001

Quiz Case 1

Author Affiliations
 

FREDERIC B.ASKINMDWILLIAM H.WESTRAMD

Arch Otolaryngol Head Neck Surg. 2001;127(5):594. doi:10.1001/archotol.127.5.594

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.

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