case_images: PMC3546095_01
case_images: 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.
case_images: jkms-28-156-g001.jpg
case_images: PMC3546095_01_jkms-28-156-g001.jpg
case_images: F1
case_images: 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.
case_images: 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.
case_images: jkms-28-156-g002.jpg
case_images: PMC3546095_01_jkms-28-156-g002.jpg
case_images: F2
case_images: This transversion leads to the substitution of valine with methionine (Fig. 2).
case_images: Pedigree of the family showing the affected member (index patient). Circles and squares denote female and male family members, respectively.
case_images: jkms-28-156-g003.jpg
case_images: PMC3546095_01_jkms-28-156-g003.jpg
case_images: F3
case_images: No other family members carried the V804M RET mutation (Fig. 3).