Thyroblastoma: A DICER1-associated embryonal neoplasm and fine needle aspiration diagnostic criteria

Thyroblastoma is a rare, aggressive embryonal thyroid neoplasm associated with DICER1 mutation. It usually presents as a rapidly growing thyroid mass diffusely infiltrating the thyroid lobes and extending into perithyroidal tissue. Most thyroblastomas were initially diagnosed as malignant teratoma or carcinosarcoma. The cytologic features of thyroblastoma have not been well documented. Here, we present the cytological findings of a case of thyroblastoma in a 19-year-old female with a dominant solid left thyroid nodule. A fine needle aspiration biopsy of the mass revealed a highly cellular aspirate composed of crowded, atypical, high nuclear to cytoplasmic ratio epithelial cells, arranged in a variety of architectural patterns including rosette-like microfollicular, solid, and morular. In addition, the background contains a minor population of atypical mesenchymal cells. The cytologic differential diagnosis of thyroblastoma includes primary thyroid neoplasms such as adenomatous nodule, follicular adenoma, follicular carcinoma, and poorly differentiated thyroid carcinoma as well as metastatic carcinoma.