Tran Mai Thy, Monroe Hunter L, Ozolek John A, El Naili Reima
Pathology and Laboratory Medicine, West Virginia University School of Medicine, Morgantown, USA.
Pathology, West Virginia University, Morgantown, USA.
Cureus. 2025 May 7;17(5):e83644. doi: 10.7759/cureus.83644. eCollection 2025 May.
Thyroid carcinomas comprise diverse subtypes, each characterized by distinct histomorphologies, molecular profiles, and prognoses. Follicular thyroid carcinoma (FTC) is a differentiated thyroid cancer demonstrating vascular and/or capsular invasion, while anaplastic thyroid carcinoma (ATC) is an aggressive and undifferentiated form with an exceedingly dismal prognosis. Thyroid carcinomas also can exhibit mixed histologic features, complicating the diagnosis and management of these entities. germline and somatic mutations are associated with multiple neoplasms, including thyroid neoplasms along a morphological spectrum from benign, differentiated malignant carcinomas, and poorly differentiated carcinomas, suggesting a role for these mutations in tumor dedifferentiation and progression. We present a 31-year-old female with a large encompassing thyroid tumor harboring a somatic "hotspot" mutation (p.E1705K) displaying predominantly follicular microarchitecture, bizarre and pleomorphic nuclear features, yet without overt invasive or poorly differentiated features and low proliferation indices. While poorly differentiated follicular thyroid carcinomas have been associated with mutations, the morphology present in this tumor, to our knowledge, has not been reported in associated thyroid neoplasms. This case continues to expand the morphological spectrum of thyroid tumors with mutation and again raises questions about the role of in thyroid tumor morphology and behavior.
甲状腺癌包含多种亚型,每种亚型都具有独特的组织形态学、分子特征和预后。滤泡状甲状腺癌(FTC)是一种分化型甲状腺癌,表现出血管和/或包膜侵犯,而未分化甲状腺癌(ATC)是一种侵袭性的未分化形式,预后极差。甲状腺癌也可表现出混合组织学特征,使这些实体的诊断和管理变得复杂。种系和体细胞突变与多种肿瘤相关,包括从良性、分化型恶性癌到低分化癌的形态学谱系中的甲状腺肿瘤,提示这些突变在肿瘤去分化和进展中起作用。我们报告一名31岁女性,患有一个巨大的甲状腺肿瘤,该肿瘤存在体细胞“热点”突变(p.E1705K),主要表现为滤泡微结构、奇异和多形性核特征,但无明显侵袭或低分化特征,增殖指数低。虽然低分化滤泡状甲状腺癌与 突变有关,但据我们所知,该肿瘤中存在的形态在相关甲状腺肿瘤中尚未见报道。该病例继续扩展了伴有 突变的甲状腺肿瘤的形态学谱系,并再次引发了关于 在甲状腺肿瘤形态和行为中的作用的问题。