Wei Shuanzeng, LiVolsi Virginia A, Montone Kathleen T, Morrissette Jennifer J D, Baloch Zubair W
Department of Pathology and Laboratory Medicine, Hospital of the University of Pennsylvania, 3400 Spruce Street, Philadelphia, PA, 19104, USA.
Department of Pathology and Laboratory Medicine, Hospital of the University of Pennsylvania, 3020 Market Street, Philadelphia, PA, 19104, USA.
Endocr Pathol. 2015 Dec;26(4):365-9. doi: 10.1007/s12022-015-9403-6.
Oncocytic follicular carcinoma (OFC)/Hürthle cell carcinoma represents 3-4 % thyroid carcinomas and can be associated with more aggressive behavior and compromised survival compared to non-oncocytic thyroid carcinoma. In this study, we utilized targeted next-generation sequencing to investigate the molecular alterations in a heterogeneous group of clinically aggressive OFC. A total of 12 cases of OFC were included in this study. Targeted next-generation sequencing was performed using panels of 47 or 20 genes, which are frequently mutated in solid tumors. The case cohort comprised eight cases of angioinvasive OFC, two cases of poorly differentiated OFC, one case of OFC with anaplastic change, and one case of OFC with capsular invasion only. Five out of 12 cases (42 %) harbored TP53 mutation. PTEN mutations were also seen in three cases with TP53 mutation (25 %). Based on this study, TP53 and PTEN are possibly involved in the pathogenesis of OFC. Further studies on a larger case cohort are needed to further elucidate this mechanism and its effect on clinical behavior of these intriguing tumors.
嗜酸细胞性滤泡癌（OFC）/许特莱细胞癌占甲状腺癌的3%-4%，与非嗜酸细胞性甲状腺癌相比，其行为可能更具侵袭性，生存期更短。在本研究中，我们利用靶向二代测序技术研究了一组临床侵袭性OFC的分子改变。本研究共纳入12例OFC。使用47个或20个基因的检测板进行靶向二代测序，这些基因在实体瘤中经常发生突变。病例队列包括8例血管浸润性OFC、2例低分化OFC、1例间变的OFC和1例仅伴有包膜侵犯的OFC。12例中有5例（42%）存在TP53突变。在3例TP53突变病例中也发现了PTEN突变（25%）。基于本研究，TP53和PTEN可能参与了OFC的发病机制。需要对更大的病例队列进行进一步研究，以进一步阐明这一机制及其对这些有趣肿瘤临床行为的影响。
