Thyroblastoma:clinicopathological analysis and review of literature
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.
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