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Quiz Case 1
Anil V. Parwani, MD, PhD;
Robert W. Allan, MD;
William H. Westra, MD;
Robert Udelsman, MD;
Douglas W. Ball, MD;
Pedram Argani, MD
Baltimore, Md
Arch Otolaryngol Head Neck Surg. 2001;127:594-597.
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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.
The thyroid gland was grossly normal, without palpable or visible masses.
The histopathologic findings of sections obtained from the right . . . [Full Text of this Article]
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