Chen Xiting, Xiong Lijuan, Liu Hongling, Wang Haoqiang, Cheng Donghai, Wang Wei, He Wenyuan, Xie Bo, Zhou Juan
Guangzhou University of Chinese Medicine, Guangzhou, Guangdong, China.
Department of Oncology, General Hospital of Southern Theater Command, Guangzhou, Guangdong, China.
Front Oncol. 2025 Feb 11;15:1467631. doi: 10.3389/fonc.2025.1467631. eCollection 2025.
The diagnosis of thyroblastoma initially identified as a thyroid malignant teratoma was subsequently classified as a distinct entity by the World Health Organization (WHO) in 2022. This classification was based on the observation that the tumor presents with independent primitive multilineage elements and is frequently associated with DICER1 hotspot mutations.The objective of this study was to explore and investigate the clinicopathologic characteristics, molecular features and treatment strategies of patients with thyroblastoma, followed by a review of the previous relevant literature.
The clinical manifestations, pathological characteristics, molecular features and treatment strategies of the initial case of thyroblastoma pathologically confirmed in China were analyzed.
The tumor was revealed to have high invasive potential, rapid disease progression, and primitive multilineage elements of pathology, including immature thyroid epithelium, spindled mesenchymal proliferations, and neuroepithelial blastema. Next-generation sequencing (NGS) confirmed the presence of germline DICER1 heterozygous pathogenic mutation at p.G1784* in patient, accompanied by the somatic hotspot mutation at p.E1813D of the RNase IIIb domain. Despite local thyroid tumor resection, the disease continued to progress rapidly. However, chemotherapy with BEP led to a reduction in the tumor. The patient's progression-free survival (PFS) reached 15 months following the administration of BEP chemotherapy in conjunction with local radiotherapy. The patient ultimately died of cardiac arrest resulting from the progression of the cancer thrombus to the right atrium and right ventricle.
Although thyroblastoma has been treated as a separate entity with its distinctive morphologic and molecular characteristics, its clinicopathological features, diagnosis and treatment methods and prognosis remain poorly understood, which requires more accumulated clinical case data to provide basis for the correct diagnosis and treatment in the future.
甲状腺母细胞瘤最初被诊断为甲状腺恶性畸胎瘤，随后在2022年被世界卫生组织（WHO）归类为一种独特的实体。这一分类基于以下观察结果：该肿瘤呈现出独立的原始多谱系成分，并且经常与DICER1热点突变相关。本研究的目的是探讨和研究甲状腺母细胞瘤患者的临床病理特征、分子特征及治疗策略，随后对既往相关文献进行综述。
对中国首例经病理确诊的甲状腺母细胞瘤患者的临床表现、病理特征、分子特征及治疗策略进行分析。
该肿瘤具有高侵袭性、疾病进展迅速以及病理上的原始多谱系成分，包括未成熟的甲状腺上皮、梭形间充质增生和神经上皮母细胞。二代测序（NGS）证实患者存在种系DICER1基因第1784位密码子杂合致病性突变（p.G1784*），同时伴有核糖核酸酶IIIb结构域第1813位密码子（p.E1813D）的体细胞热点突变。尽管进行了局部甲状腺肿瘤切除，但疾病仍迅速进展。然而，采用BEP方案化疗使肿瘤缩小。在BEP化疗联合局部放疗后，患者的无进展生存期（PFS）达到15个月。患者最终因癌栓进展至右心房和右心室导致心脏骤停死亡。
尽管甲状腺母细胞瘤已被视为具有独特形态学和分子特征的独立实体，但其临床病理特征、诊断和治疗方法以及预后仍知之甚少，这需要更多积累的临床病例数据为未来的正确诊断和治疗提供依据。
