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Genetic insights into thymic carcinomas and thymic neuroendocrine neoplasms denote prognosis signatures and pathways

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Chinese Medical Journal 2023年第22期136卷 2712-2721页

作者： Shuyuan Wang Zhitao Gu Lei Zhu Yuchen Han Hong Yu Wentao Fang Baohui Han Department of Respiratory and Critical Care Medicine Shanghai Chest HospitalShanghai Jiao Tong University School of MedicineShanghai 200030China Department of Thoracic Surgery Shanghai Chest HospitalShanghai Jiao Tong University School of MedicineShanghai 200030China Department of Pathology Shanghai Chest HospitalShanghai Jiao Tong University School of MedicineShanghai 200030China Department of Radiology Shanghai Chest HospitalShanghai Jiao Tong University School of MedicineShanghai 200030China

Background:Thymic carcinomas(TCs)and thymic neuroendocrine neoplasms(TNENs)are two aggressive subtypes of thymic malignancy.Traditional therapy for advanced TCs and TNENs has limited outcome.New genomic profiling of TCs and TNENs might provide insights that contribute to the development of new treatment approaches.Methods:We used gene panel sequencing technologies to investigate the genetic aberrations of 32 TC patients and 15 TNEN patients who underwent surgery at Shanghai Chest Hospital between 2015 and 2017.Patient samples were sequenced using a 324-gene platform with licensed technologies.In this study,we focused on clinically relevant genomic alterations(CRGAs),which are previously proven to be pathogenic alterations,to identify the pathology-specific mutational patterns,prognostic signatures of TCs and TNENs.Results:The mutational profiles between TCs and TNENs were diverse.The genetic alterations that ranked highest in TCs were in CDKN2A,TP53,ASXL1,CDKN2B,PIK3C2G,PTCH1,and ROS1,while those in TNENs were in MEN1,MLL2,APC,RB1,and TSC2.Prognostic analysis showed that mutations of ROS1,CDKN2A,CDKN2B,BRAF,and BAP1 were significantly associated with worse outcomes in TC patients,and that mutation of ERBB2 indicated shortened disease-free survival(DFS)and overall survival(OS)in TNEN patients.Further investigation found that the prognosis-related genes were focused on signal pathways of cell cycle control,chromatin remodeling/DNA methylation,phosphoinositide 3-kinases(PI3K)/protein kinase B(AKT)/mammalian target of rapamycin(mTOR),and receptor tyrosine kinase(RTK)/RAS/mitogen-activated protein kinase(MAPK)signaling.Conclusion:We profiled the mutational features of 47 Chinese patients with thymic malignancy of diverse pathologic phenotypes to uncover the integrated genomic landscape of these rare tumors,and identified the pathology-specific mutational patterns,prognostic signatures,and potential therapeutic targets for TCs and TNENs.

关键词： mutational profile Thymic carcinomas Thymic neuroendocrine neoplasms Pathologic subtypes Prognosis Thymic malignancy

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Identification of MXD1 as a Key Gene for Esophageal Squamous Cell Carcinoma

Identification of MXD1 as a Key Gene for Esophageal Squamous...

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2021年中国肿瘤标志物学术大会暨第十五届肿瘤标志物青...

作者： Feng Du Dezuo Dong Youwu Shi Jing Sun Zhiwei Sun Ying Yang Yanjie Xiao Jing Yu Jiuda Zhao Xiaodong Zhang Jun Jia Peking University Cancer Hospital & Institute 青海大学附属医院

Identification of novel biomarkers is crucial for the diagnosis and treatment of esophageal squamous cell carcinoma（ESCC）. The clinical significance and molecular characteristics of MYC associated factor X dimerization protein 1（MXD1） in ESCC remain unclear. In the present study, bioinformatic analysis of mRNA expression data was used to reveal the relevance of MXD1 activity in ESCC and immunohistochemistry was used to confirm these findings on the protein expression level. We found that MXD1 mRNA expression was significantly decreased in tumor than in normal tissue. Low expression of MXD1 in ESCC was associated with more aggressive tumor stage and worse prognosis on both mRNA and protein level. Moreover, MXD1-low ESCC had upregulation of epithelialmesenchymal transition and extracellular matrix-related gene sets, and significantly more NFE2 L2 and KIAA1324 L mutation. Whereas MXD1-high ESCC showed upregulation of tumor differentiation and immune-related gene sets. Furthermore, we applied an established computational approach（CIBERSORT） to infer the proportions of 22 subsets of immune cells. MXD1 high expression seemed to be associated with higher proportion of neutrophils but lower proportion of macrophage M2. On the protein level, MXD1 expression was positively correlated with PDL1 and CD8 expression.In silico analysis predicted that MXD1-high ESCC had more likelihood to benefit from immunotherapy. The findings of current study indicated the essential role of MXD1 in ESCC.

关键词： MXD1 esophageal squamous cell carcinoma prognosis mutational profile tumor microenvironment

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