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Intrathyroid thymic carcinoma: clinicopathological features and whole exome sequencing analysis

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机构: [1]Univ Elect Sci & Technol China, Sichuan Canc Hosp & Inst, Sichuan Clin Res Ctr Canc, Sichuan Canc Ctr,Dept Pathol,Affiliated Canc Hosp, 55, Sect 4,Renmin South Rd, Chengdu 610041, Peoples R China [2]Univ Elect Sci & Technol China, Sichuan Canc Hosp & Inst, Affiliated Canc Hosp, Sichuan Clin Res Ctr Canc,Dept Thorac Surg,Sichuan, Chengdu, Peoples R China
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关键词: Intrathyroid thymic carcinoma Carcinoma showing thymus-like element Clinicopathological features Whole exome sequencing

摘要:
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.

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出版当年[2023]版:
大类 | 3 区 医学
小类 | 2 区 病理学
最新[2023]版:
大类 | 3 区 医学
小类 | 2 区 病理学
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Q1 PATHOLOGY
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Q1 PATHOLOGY

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第一作者机构: [1]Univ Elect Sci & Technol China, Sichuan Canc Hosp & Inst, Sichuan Clin Res Ctr Canc, Sichuan Canc Ctr,Dept Pathol,Affiliated Canc Hosp, 55, Sect 4,Renmin South Rd, Chengdu 610041, Peoples R China
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