The prognosis of papillary thyroid carcinoma (PTC) is highly dependent on gene mutations and pathologic features.The common gene mutations in PTC include BRAF V600E,RET/PTC rearrangement,and RAS mutations.These mutations have been suggested to be associated with an increased risk of recurrence,poorer efficacy of postoperative radioactive iodine therapy,and reduced survival.The pathologic subtypes of PTC include classic,follicular,tall cell,hobnail,columnar cell,diffuse sclerosing,solid/trabecular,oncocytic,Warthin-like,clear cell,and spindle cell subtypes,which have different aggressiveness and linked with varied clinical prognosis.Therefore,detecting the gene mutations and pathologic subtypes of PTC is of great importance for therapeutic regimen selection and prognosis evaluation.Ultrasound imaging with non-invasiveness,convenience,and high resolution has become the primary examination method for the diagnosis and treatment of thyroid cancer.This paper reviews the correlations of gene mutations and pathologic subtypes with the ultrasound features of PTC,aiming to give new insights into the application of ultrasound imaging in predicting gene mutations and pathologic subtypes of PTC before surgery as well as provide new ideas for accurate assessment of preoperative prognosis.
甲状腺乳头状癌(PTC)的基因突变和病理亚型与其预后密切相关。PTC常见的基因突变包括BRAF V600E突变、RET/PTC重排和RAS突变,既往研究证明,PTC的基因突变与其复发风险增加、术后放射性碘治疗效果变差、生存期降低等有关。PTC病理亚型包括经典型、滤泡型、高细胞型、柱状细胞型、靴钉型、弥漫硬化型、固体/小梁型、嗜酸细胞型、沃辛瘤样型、透明细胞型、梭形细胞型等,其侵袭性和临床预后各不相同,因此检测PTC基因突变和鉴别病理亚型,对治疗方案的选择和预后评估有着极其重要的意义。超声具有无创、便捷和分辨率高等诸多优势,是甲状腺癌诊疗的重要影像检查方法。本文回顾了PTC基因突变和病理亚型与超声表现的相关研究,以期在术前运用超声影像预测PTC基因突变和病理亚型,为PTC术前精准评估预后提供新思路。.
Keywords: gene mutation; papillary thyroid carcinoma; pathologic subtype; ultrasound.