Kim Bu Kyung, Choi Young Sik, Gwoo Sangeon, Park Yo Han, Yang Song I, Kim Jeong Hoon
Department of Internal Medicine, Kosin University College of Medicine, 262 Gamcheon Street SeoGu, Busan, 602-703, South Korea.
J Med Case Rep. 2012 Jul 2;6:179. doi: 10.1186/1752-1947-6-179.
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.
1型神经纤维瘤病是一种常见的遗传性神经皮肤疾病。1型神经纤维瘤病可能与中枢神经系统肿瘤和嗜铬细胞瘤有关。然而，与1型神经纤维瘤病相关的乳头状甲状腺癌非常罕见。据我们所知，我们报告了首例在1型神经纤维瘤病患者中通过超声偶然检测出的乳头状甲状腺癌病例。
一名63岁的韩国男性1型神经纤维瘤病患者因超声偶然发现甲状腺结节前来我院就诊。通过超声引导下细针穿刺诊断为乳头状甲状腺癌，随后进行了全甲状腺切除术及中央区颈部淋巴结清扫术。通过多重实时聚合酶链反应检测鉴定出RafV600E突变的B亚型。
与1型神经纤维瘤病相关的乳头状甲状腺癌非常罕见。然而，推测如果对1型神经纤维瘤病患者进行超声筛查，乳头状甲状腺癌更有可能被检测出来。
