Diagnosis and treatment of thyroblastoma: a case report and review of literature
Background and objectiveThe 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 primi...
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Frontiers Media S.A.
2025-02-01
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| Series: | Frontiers in Oncology |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fonc.2025.1467631/full |
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| author | Xiting Chen Xiting Chen Lijuan Xiong Lijuan Xiong Hongling Liu Haoqiang Wang Donghai Cheng Wei Wang Wenyuan He Bo Xie Juan Zhou |
| author_facet | Xiting Chen Xiting Chen Lijuan Xiong Lijuan Xiong Hongling Liu Haoqiang Wang Donghai Cheng Wei Wang Wenyuan He Bo Xie Juan Zhou |
| author_sort | Xiting Chen |
| collection | DOAJ |
| description | Background and objectiveThe 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.MethodsThe clinical manifestations, pathological characteristics, molecular features and treatment strategies of the initial case of thyroblastoma pathologically confirmed in China were analyzed.ResultsThe 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.ConclusionAlthough 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. |
| format | Article |
| id | doaj-art-dec20dae62c14bdc82870a9a1b2c0f89 |
| institution | Kabale University |
| issn | 2234-943X |
| language | English |
| publishDate | 2025-02-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Oncology |
| spelling | doaj-art-dec20dae62c14bdc82870a9a1b2c0f892025-02-11T06:59:13ZengFrontiers Media S.A.Frontiers in Oncology2234-943X2025-02-011510.3389/fonc.2025.14676311467631Diagnosis and treatment of thyroblastoma: a case report and review of literatureXiting Chen0Xiting Chen1Lijuan Xiong2Lijuan Xiong3Hongling Liu4Haoqiang Wang5Donghai Cheng6Wei Wang7Wenyuan He8Bo Xie9Juan Zhou10Guangzhou University of Chinese Medicine, Guangzhou, Guangdong, ChinaDepartment of Oncology, General Hospital of Southern Theater Command, Guangzhou, Guangdong, ChinaGuangzhou University of Chinese Medicine, Guangzhou, Guangdong, ChinaDepartment of Oncology, General Hospital of Southern Theater Command, Guangzhou, Guangdong, ChinaDepartment of Oncology, General Hospital of Southern Theater Command, Guangzhou, Guangdong, ChinaDepartment of Oncology, General Hospital of Southern Theater Command, Guangzhou, Guangdong, ChinaDepartment of Oncology, General Hospital of Southern Theater Command, Guangzhou, Guangdong, ChinaDepartment of Pathology, General Hospital of Southern Theater Command, Guangzhou, Guangdong, ChinaDepartment of Pathology, General Hospital of Southern Theater Command, Guangzhou, Guangdong, ChinaDepartment of Oncology, General Hospital of Southern Theater Command, Guangzhou, Guangdong, ChinaDepartment of Oncology, General Hospital of Southern Theater Command, Guangzhou, Guangdong, ChinaBackground and objectiveThe 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.MethodsThe clinical manifestations, pathological characteristics, molecular features and treatment strategies of the initial case of thyroblastoma pathologically confirmed in China were analyzed.ResultsThe 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.ConclusionAlthough 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.https://www.frontiersin.org/articles/10.3389/fonc.2025.1467631/fullDICER1thyroblastomathyroid neoplasmsthyroiddiagnosis and treatment |
| spellingShingle | Xiting Chen Xiting Chen Lijuan Xiong Lijuan Xiong Hongling Liu Haoqiang Wang Donghai Cheng Wei Wang Wenyuan He Bo Xie Juan Zhou Diagnosis and treatment of thyroblastoma: a case report and review of literature Frontiers in Oncology DICER1 thyroblastoma thyroid neoplasms thyroid diagnosis and treatment |
| title | Diagnosis and treatment of thyroblastoma: a case report and review of literature |
| title_full | Diagnosis and treatment of thyroblastoma: a case report and review of literature |
| title_fullStr | Diagnosis and treatment of thyroblastoma: a case report and review of literature |
| title_full_unstemmed | Diagnosis and treatment of thyroblastoma: a case report and review of literature |
| title_short | Diagnosis and treatment of thyroblastoma: a case report and review of literature |
| title_sort | diagnosis and treatment of thyroblastoma a case report and review of literature |
| topic | DICER1 thyroblastoma thyroid neoplasms thyroid diagnosis and treatment |
| url | https://www.frontiersin.org/articles/10.3389/fonc.2025.1467631/full |
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