Quiz Case 1
نویسندگان
چکیده
A N 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 protooncogene. 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 upper and middle poles of the thyroid are shown in Figure 1 and Figure 2. Immunohistochemical studies for calcitonin (Figure 3) and thyroglobulin (Figure 4) were performed. What is your diagnosis?
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