Intrathyroid thymic carcinoma: clinicopathological features and whole exome sequencing analysis

Intrathyroid thymic carcinoma: clinicopathological features and whole exome sequencing analysis

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Veröffentlicht in:Virchows Archiv. - Springer Berlin Heidelberg, 1847. - 482(2023), 5 vom: 05. Apr., Seite 813-822
1. Verfasser: Li, Jiayu (VerfasserIn)
Weitere Verfasser: Xiang, Run (VerfasserIn) Li, Yunzhu (VerfasserIn) Liao, Qiong (VerfasserIn) Liu, Yang (VerfasserIn)
Format: electronic Article
Sprache:English
Veröffentlicht: 2023
ISSN:1432-2307
Externe Quellen:lizenzpflichtig
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245 1 0 |a Intrathyroid thymic carcinoma: clinicopathological features and whole exome sequencing analysis 
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500 |a © The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature 2023. Springer Nature or its licensor (e.g. a society or other partner) holds exclusive rights to this article under a publishing agreement with the author(s) or other rightsholder(s); author self-archiving of the accepted manuscript version of this article is solely governed by the terms of such publishing agreement and applicable law. 
520 |a Abstract Intrathyroid thymic carcinoma (ITC) is a rare malignant tumour. We present nine cases of ITC that were analysed by immunohistochemical staining, of which five were analysed using whole exome sequencing (WES). These cases included six women and three men with an age range of 31–66 years. The average postoperative follow-up term was 37.8 months (range, 7–95 months), and all patients survived well except for one case with lung metastasis. Microscopically, ITC showed solid islands of tumour cells separated by fibrous connective tissue containing lymphocytes and other inflammatory cells. Tumour cells strongly expressed Ckpan (AE1/AE3), P63, and CD117. And all cases but one were positive for CD5. The median value of Ki-67 was 32% (range 10–60%). We observed partial positivity of Syn and CgA in only one case. ITC shares morphological and immunohistochemical similarities with thymic squamous cell carcinoma. In situ hybridization of EBER showed negative results. All cases were microsatellite stable, and the tumour mutational burden of the 5 cases was all < 1 mutations/Mb. WES showed higher mutation rates for N4BP1 (2/5), and many genetic alterations were related to the NF-kB signalling pathway, which is crucial for insight into the molecular mechanisms of the occurrence and development of ITC. 
650 4 |a Intrathyroid thymic carcinoma 
650 4 |a Carcinoma showing thymus-like element 
650 4 |a Clinicopathological features 
650 4 |a Whole exome sequencing 
700 1 |a Xiang, Run  |4 aut 
700 1 |a Li, Yunzhu  |4 aut 
700 1 |a Liao, Qiong  |4 aut 
700 1 |a Liu, Yang  |4 aut 
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