دورية أكاديمية
Genomic Landscape of Pulmonary Sarcomatoid Carcinoma.
| العنوان: | Genomic Landscape of Pulmonary Sarcomatoid Carcinoma. |
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| المؤلفون: | Kwon HJ; Department of Pathology, Seoul National University College of Medicine, Seoul, Korea.; Department of Pathology and Translational Medicine, Seoul National University Bundang Hospital, Seongnam, Korea., Lee S; Department of Pathology and Translational Medicine, Seoul National University Bundang Hospital, Seongnam, Korea., Han YB; Department of Pathology, Seoul National University College of Medicine, Seoul, Korea.; Department of Pathology and Translational Medicine, Seoul National University Bundang Hospital, Seongnam, Korea., Lee J; Department of Pathology, Seoul National University College of Medicine, Seoul, Korea.; Department of Pathology and Translational Medicine, Seoul National University Bundang Hospital, Seongnam, Korea., Kwon S; Department of Pathology, Seoul National University College of Medicine, Seoul, Korea.; Department of Pathology and Translational Medicine, Seoul National University Bundang Hospital, Seongnam, Korea., Kim H; Department of Pathology, Seoul National University College of Medicine, Seoul, Korea.; Department of Pathology and Translational Medicine, Seoul National University Bundang Hospital, Seongnam, Korea., Chung JH; Department of Pathology, Seoul National University College of Medicine, Seoul, Korea.; Department of Pathology and Translational Medicine, Seoul National University Bundang Hospital, Seongnam, Korea.; Artificial Intelligence Institute of Seoul National University, Seoul, Korea.; Genomic Medicine Institute, Seoul National University Medical Research Center, Seoul, Korea. |
| المصدر: | Cancer research and treatment [Cancer Res Treat] 2024 Apr; Vol. 56 (2), pp. 442-454. Date of Electronic Publication: 2023 Nov 14. |
| نوع المنشور: | Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: The Association Country of Publication: Korea (South) NLM ID: 101155137 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2005-9256 (Electronic) Linking ISSN: 15982998 NLM ISO Abbreviation: Cancer Res Treat Subsets: MEDLINE |
| أسماء مطبوعة: | Original Publication: Seoul, Korea : The Association, |
| مواضيع طبية MeSH: | Carcinoma, Non-Small-Cell Lung*/pathology , Lung Neoplasms*/drug therapy , Carcinoma*, Humans ; B7-H1 Antigen/metabolism ; Kelch-Like ECH-Associated Protein 1/genetics ; Kelch-Like ECH-Associated Protein 1/metabolism ; NF-E2-Related Factor 2/genetics ; NF-E2-Related Factor 2/metabolism ; NF-E2-Related Factor 2/therapeutic use ; Mutation ; Genomics |
| مستخلص: | Purpose: Pulmonary sarcomatoid carcinoma (PSC) is a rare aggressive subtype of non-small cell lung cancer (NSCLC) with limited therapeutic strategies. We attempted to elucidate the evolutionary trajectories of PSC using multiregional and longitudinal tumor samples. Materials and Methods: A total of 31 patients were enrolled in this study and 11 longitudinal samples were available from them. Using whole exome sequencing data, we analyzed the mutational signatures in both carcinomatous and sarcomatous areas in primary tumors of the 31 patients and longitudinal samples obtained from 11 patients. Furthermore, digital droplet polymerase chain reaction (ddPCR), and programmed death-ligand 1 (PD-L1) immunohistochemistry using the Ventana SP263 assay were performed. Results: TP53 was identified as the most frequently altered gene in the primary (74%) and metastatic (73%) samples. MET exon 14 skipping mutations, confirmed by ddPCR, and TP53 mutations were mutually exclusive; whereas, MET exon 14 skipping mutations frequently co-occurred with MDM2 amplification. Metastatic tumors showed dissimilar genetic profiles from either primary component. During metastasis, the signatures of APOBEC decreased in metastatic lesions compared with that in primary lesions. PSC showed higher MET and KEAP1 mutations and stronger PD-L1 protein expression compared with that recorded in other NSCLCs. Conclusion: Decreased APOBEC signatures and subclonal diversity were detected during malignant progression in PSC. Frequent MET mutations and strong PD-L1 expression distinguished PSC from other NSCLCs. The aggressiveness and therapeutic difficulties of PSC were possibly attributable to profound intratumoral and intertumoral genetic diversity. Next-generation sequencing could suggest the appropriate treatment strategy for PSC. |
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| فهرسة مساهمة: | Keywords: APOBEC; Exome sequencing; MET; Programmed cell death-ligand 1; Pulmonary sarcomatoid carcinoma |
| المشرفين على المادة: | 0 (B7-H1 Antigen) 0 (Kelch-Like ECH-Associated Protein 1) 0 (NF-E2-Related Factor 2) |
| تواريخ الأحداث: | Date Created: 20231117 Date Completed: 20240415 Latest Revision: 20240425 |
| رمز التحديث: | 20240425 |
| مُعرف محوري في PubMed: | PMC11016656 |
| DOI: | 10.4143/crt.2023.764 |
| PMID: | 37973906 |
| قاعدة البيانات: | MEDLINE |
| تدمد: | 2005-9256 |
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| DOI: | 10.4143/crt.2023.764 |