PMC3546095_01
Transverse ultrasound image of thyroid nodules. (A) Ultrasound showing 0.6 cm nodule in index patient and (B) multiple 0.5 cm sized nodules in the index patient's mother.
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F1
A 33-yr-old man (index patient) was incidentally diagnosed with a 0.7 cm sized nodule in the right thyroid at a general check-up on 30 January 2012 (Fig. 1). On thyroid US, the index patient's mother had multiple small nodules on her left thyroid gland (Fig. 1), but US-guided FNA cytology revealed benign.
Direct sequence analysis of exon 14 of the RET gene. Genetic analysis of the index case revealed a missense GTG ATG mutation at codon 804 in exon 14 of the RET proto-oncogene.
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F2
This transversion leads to the substitution of valine with methionine (Fig. 2).
Pedigree of the family showing the affected member (index patient). Circles and squares denote female and male family members, respectively.
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F3
No other family members carried the V804M RET mutation (Fig. 3).