NTRK3重排甲状腺乳头状癌的临床病理学特征

目的:探讨NTRK3重排甲状腺乳头状癌（PTC）的临床病理学特征、诊断和鉴别诊断。方法:收集2015年1月至2020年1月福建省立医院南院诊断的BRAF V600E阴性的PTC病例174例。对这些病例行免疫组织化学染色和荧光原位杂交（FISH）检测，筛选出NTRK3重排PTC的病例。总结确诊病例的临床资料、病理学特征、...

Clinicopathological features of NTRK3 gene rearrangement papillary thyroid carcinoma

Objective To investigate the clinicopathological features and differential diagnosis of NTRK3 gene rearrangement thyroid papillary carcinoma(PTC).Methods The PTC cases without BRAF V600E mutation were collected at Fujian Provincial Hospital South Branch from January 2015 to January 2020.The cases of NTRK3 gene rearrangement PTC were examined using immunohistochemistry and fluorescence in situ hybridization(FISH).The clinical data,histopathological characteristics,immunohistochemical features and molecular pathological changes were retrospectively analyzed.Data from the TCGA PTC dataset and the literature were also studied.Results A total of 3 PTC cases harboring NTRK3 gene rearrangement were confirmed.All the patients were female,aged from 26,49,34 years.Histologically,two of them demonstrated a multinodular growth pattern.Only one case showed prominent follicular growth pattern;the other two tumors showed a mixture of follicular,papillary and solid growth patterns.All tumors showed a typical PTC nuclear manifestation,with some nuclear pleomorphism,vacuolated foci and oncocytic features.The characteristic formation of glomeruloid follicular foci was present in two cases which also showed psammoma bodies,and tumoral capsular or angiolymphatic invasion.The background thyroid parenchyma showed chronic lymphocytic thyroiditis.Mitotic rates were low,and no cases had any tumor necrosis.The pan-TRK and TTF1 testing was both positive in 3 cases,while S-100 and mammaglobin were both negative in them.FISH studies confirmed the NTRK3 gene rearrangement in all 3 cases.Studies on the TCGA datasets and literature revealed similar findings.Conclusions NTRK3 gene rearrangement PTC is rare.It may be easily misdiagnosed due to the lack of histological and clinicopathological characteristics.Molecular studies such as pan-TRK immunostaining,FISH and even next-generation sequencing are needed to confirm the diagnosis.Immunohistochemistry of pan-TRK performed in the PTC cases without BRAF V600E mutation can be used as a good rapid-screening tool.With the emergence of pan-cancer tyrosine receptor kinase inhibitors,proper diagnosis of these tumors can help determine appropriate treatments and improve their outcomes.