Introduction: 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. Case presentation: 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. Conclusions: 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.© 2012 Kim et al.; licensee BioMed Central Ltd.
CITATION STYLE
Kim, B. K., Choi, Y. S., Gwoo, S., Park, Y. H., Yang, S. I., & Kim, J. H. (2012). Neurofibromatosis type 1 associated with papillary thyroid carcinoma incidentally detected by thyroid ultrasonography: A case report. Journal of Medical Case Reports, 6. https://doi.org/10.1186/1752-1947-6-179
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