Neurofibromatosis type 1 associated with papillary thyroid carcinoma incidentally detected by thyroid ultrasonography: a case report
1 Department of Internal Medicine, Kosin University College of Medicine, 262 Gamcheon Street SeoGu, Busan, 602-703, South Korea
2 Department of General Surgery, Kosin University College of Medicine, 262 Gamcheon Street SeoGu, Busan, 602-703, South Korea
Journal of Medical Case Reports 2012, 6:179 doi:10.1186/1752-1947-6-179Published: 2 July 2012
Neurofibromatosis type 1 is a common heritable neurocutaneous disorder. Neurofibromatosis type 1 may be associated with tumors of the central nervous system and pheochromocytoma. However, papillary thyroid carcinoma associated with neurofibromatosis type 1 is very rare. We present what is, to the best of our knowledge, the first case of papillary thyroid carcinoma to be detected incidentally by ultrasonography in a patient with neurofibromatosis type 1.
A 63-year-old South Korean man with neurofibromatosis type 1 presented to our study hospital because of thyroid nodules detected incidentally by ultrasonography. Papillary thyroid carcinoma was diagnosed by ultrasonography-guided fine-needle aspiration, and then a total thyroidectomy with central compartment neck dissection was performed. The B isoform of the RafV600E mutation was identified by multiplex real-time polymerase chain reaction assay.
Papillary thyroid carcinoma associated with neurofibromatosis type 1 is very rare. However, it is speculated that papillary thyroid carcinoma is more likely to be detected in patients with neurofibromatosis type 1 if screening by ultrasonography is performed for them.