Department of Otolaryngology-Head and Neck Surgery, Thomas Jefferson University, 925 Chestnut Street 6th Floor, Philadelphia, PA, 19107, USA.
Department of Pathology, Anatomy, and Cell Biology, Thomas Jefferson University, 1025 Walnut Street, 401 College, Philadelphia, PA, 19107, USA.
Endocr Pathol. 2018 Mar;29(1):27-29. doi: 10.1007/s12022-017-9501-8.
The EIF1AX gene is a novel cancer gene that has been reported in the tumorigenesis of papillary thyroid carcinoma, follicular variant papillary thyroid carcinoma, and anaplastic thyroid carcinoma. A 71-year-old woman presented with a right thyroid mass, which was follicular neoplasm on cytology. The fine needle aspirate of the nodule was examined by next-generation sequencing and found to harbor EIF1AX and TP53 mutations. Right thyroid lobectomy was performed with final pathology showing Hürthle cell carcinoma with capsular and vascular invasion. We report an EIF1AX mutation in a patient found to have Hürthle cell carcinoma.
EIF1AX 基因是一种新型的癌基因，已在甲状腺乳头状癌、滤泡状甲状腺癌和间变性甲状腺癌的肿瘤发生中被报道。一名 71 岁女性因右侧甲状腺肿块就诊，细胞学检查提示为滤泡性肿瘤。对结节的细针抽吸物进行下一代测序检查，发现存在 EIF1AX 和 TP53 突变。行右侧甲状腺叶切除术，最终病理显示具有包膜和血管侵犯的 Hurthle 细胞癌。我们报告了一例 EIF1AX 突变患者，该患者被发现患有 Hurthle 细胞癌。
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