NTRK基因融合阳性甲状腺乳头状癌9例临床病理特征

Clinicopathological characteristics of NTRK gene fusion-positive patients in papillary thyroid carcinoma

目的分析NTRK基因融合甲状腺乳头状癌(papillary thyroid carcinoma,PTC)的组织形态学特征,为分子检测提供形态学依据。方法回顾性收集790例PTC,筛选出NTRK融合阳性病例,通过与经典型PTC组织学特点比较,探讨NTRK基因融合PTC的组织学特征。结果790例PTC检出9例(1.1%)NTRK融合阳性,其中2例NTRK1和7例NTRK3基因融合。组织学特征主要以滤泡状为主,肿瘤呈多灶性渗透或“跳跃式”浸润,胞质伴透明化改变;核膜轻度不规则。结论NTRK基因融合在PTC中的发生率较低,倾向发生于年轻人。组织学以滤泡亚型为主,形态较温和,但侵袭转移能力强,因此及早识别行高通量测序检测,以便早期干预,延长患者生存期。

Purpose To analyze the morphological characteristics of papillary thyroid carcinoma(PTC)patients with NTRK gene fusion in order to provide more important morphologic evidences for molecular detection.Methods A retrospective collection of 790 cases PTC was conducted.Then the patients with NTRK gene fusion were selected.The histopathological features of PTC patients with NTRK gene fusion were compared with those of classical PTC.Results Nine cases(1.1%)of NTRK fusion positive PTC were detected,including 2 cases of NTRK1 and 7 cases of NTRK3 gene fusion.The main histopathological features were follicular subtypes,with tumors exhibiting multinodular infiltration or“jumping”infiltration.The cytoplasm was associated with hyaline change.The cell morphology was slight irregularity.Conclusion The incidence of NTRK fusion is low in PTC and it tends to occur in the young group.Follicular subtype is the main characteristic histopathology,with mild tumor cells.But the ability of the invasion and metastasis is strong.Therefore,NGS detection should be performed for early intervention and prolonging the survival of PTC patients.