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甲状腺母细胞瘤:一种与DICER1相关的胚胎性肿瘤及细针穿刺诊断标准。

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

作者信息

Jitpasutham Tikamporn, Faquin William C, Torous Vanda F, Nosé Vania

机构信息

Department of Pathology, Massachusetts General Hospital, and Harvard Medical School, Boston, Massachusetts, USA.

Department of Pathology, Faculty of Medicine, Chulalongkorn University and King Chulalongkorn Memorial Hospital, Bangkok, Thailand.

出版信息

Diagn Cytopathol. 2023 May;51(5):E142-E148. doi: 10.1002/dc.25105. Epub 2023 Jan 23.

Abstract

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.

摘要

甲状腺母细胞瘤是一种罕见的、侵袭性胚胎性甲状腺肿瘤,与DICER1突变相关。它通常表现为迅速生长的甲状腺肿块,弥漫性浸润甲状腺叶并延伸至甲状腺周围组织。大多数甲状腺母细胞瘤最初被诊断为恶性畸胎瘤或癌肉瘤。甲状腺母细胞瘤的细胞学特征尚未得到充分记录。在此,我们展示了一名19岁女性甲状腺母细胞瘤病例的细胞学检查结果,该患者左侧甲状腺有一个占主导地位的实性结节。对该肿块进行细针穿刺活检,结果显示吸出物细胞丰富,由密集、非典型、核质比高的上皮细胞组成,排列成多种结构模式,包括玫瑰花结样微滤泡状、实性和桑葚状。此外,背景中含有少量非典型间充质细胞。甲状腺母细胞瘤的细胞学鉴别诊断包括原发性甲状腺肿瘤,如腺瘤性结节、滤泡性腺瘤、滤泡性癌和低分化甲状腺癌,以及转移性癌。

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