摘要
目的探讨甲状腺母细胞瘤的临床病理特征、免疫表型及基因改变。方法对我院收治的1例甲状腺母细胞瘤进行HE染色、免疫组化检查和二代测序并复习相关文献。结果患者男性,23岁,颈部肿物迅速增大2月。PET-CT考虑甲状腺癌伴广泛静脉内癌栓形成。显微镜下肿瘤以圆形幼稚未分化细胞组成的胚芽成分为主,混杂原始甲状腺上皮及梭形间质等多胚层成分。甲状腺上皮大部分呈条索状分布,局灶见原始滤泡;胚芽由成片的胞质稀少、核大深染的幼稚细胞组成,呈明显的神经上皮分化;间质疏密不等,密集区细胞与原始胚芽成分移行,疏松区间质细胞呈长梭形或星芒状。免疫组化:甲状腺上皮表达SALL4、TTF-1和PAX-8;胚芽成分Syn、NSE、Nestin、CD56和SALL4阳性;Ki-67约60%。NGS提示患者存在DICER1基因体细胞及杂合性胚系突变。结论甲状腺母细胞瘤是第5版《WHO(2022)甲状腺肿瘤病理分类》最新命名的肿瘤实体,病理诊断需要综合组织学、免疫组化和DICER1基因突变。
Objective To investigate the clinicopathological features, immunophenotype and genetic alterations in thyroblastoma. Methods One case of thyroblastoma was examined by HE staining, immunohistochemistry and next gene sequencing(NGS). Relevant literature was reviewed. Results A 23-year-old male patient presented with a neck mass was admitted to our hospital. PET-CT result displayed a multi-nodular thyroid neoplasm with extensive venous tumor thrombus. Microscopically, the tumor was mostly composed of neuroepithelial blastema that included round primitive or undifferentiated cells, mixed with multi-lineage components, such as primitive thyroid epithelium and spindle stroma. The thyroid epithelium was trabecular, arranged or formed immature follicles with scant colloid. The blastemal components were composed of sheets of embryonal cells with scant cytoplasm and large hyperchromatic nuclei, which showed obvious neuro-epithelial differentiation. The spindled mesenchymal elements varied from fibrous stroma frequently with myxoid change to a hypercellular proliferation of undifferentiated spindled cells. Occasionally the spindled mesenchymal cells could transit into the small round cell blastema. Immumohistochemical staining showed SALL4, TTF-1 and PAX8 were expressed in the thyroid epithelium. The blastema displayed positivity for Syn, NSE, Nestin, CD56 and SALL4. The Ki-67 index was about 60%. NGS sequencing revealed somatic and heterozygous germline mutations of DICER1 gene. Conclusion Thyroblastoma is a recently-identified thyroid malignancy. Pathological diagnosis depends on comprehensive analysis of histological morphology, immunophenotype, and genetic mutation of DICER.
作者
闫广宁
何文源
叶丹丽
李静
赖续文
王卓才
王蔚
YAN Guang-ning;HE Wen-yuan;YE Dan-li;LI Jing;LAI Xu-wen;WANG Zhuo-cai;WANG Wei(Department of Pathology,General Hospital of Southern Theatre Command,Guangzhou 510010,China)
出处
《诊断病理学杂志》
2024年第1期42-45,48,共5页
Chinese Journal of Diagnostic Pathology
