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Journal of Medical Case Reports

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Open Access 01-12-2012 | Case report

Neurofibromatosis type 1 associated with papillary thyroid carcinoma incidentally detected by thyroid ultrasonography: a case report

Authors: Bu Kyung Kim, Young Sik Choi, Sangeon Gwoo, Yo Han Park, Song I. Yang, Jeong Hoon Kim

Published in: Journal of Medical Case Reports | Issue 1/2012

Abstract

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 Raf^V600E 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.

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Title: Neurofibromatosis type 1 associated with papillary thyroid carcinoma incidentally detected by thyroid ultrasonography: a case report
Authors: Bu Kyung Kim
Young Sik Choi
Sangeon Gwoo
Yo Han Park
Song I. Yang
Jeong Hoon Kim
Publication date: 01-12-2012
Publisher: BioMed Central
Published in: Journal of Medical Case Reports / Issue 1/2012
Electronic ISSN: 1752-1947
DOI: https://doi.org/10.1186/1752-1947-6-179

At a glance: The STEP trials

Springer Medicine

Neurofibromatosis type 1 associated with papillary thyroid carcinoma incidentally detected by thyroid ultrasonography: a case report

Abstract

Introduction

Case presentation

Conclusions

At a glance: The STEP trials

Springer Medicine

Abstract

Introduction

Case presentation

Conclusions

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