دورية أكاديمية
Comprehensive Genomic and Transcriptomic Analysis of Three Synchronous Primary Tumours and a Recurrence from a Head and Neck Cancer Patient
| العنوان: | Comprehensive Genomic and Transcriptomic Analysis of Three Synchronous Primary Tumours and a Recurrence from a Head and Neck Cancer Patient |
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| المؤلفون: | Luisa Bresadola, David Weber, Christoph Ritzel, Martin Löwer, Valesca Bukur, Özlem Akilli-Öztürk, Julia Becker, Hisham Mehanna, Barbara Schrörs, Fulvia Vascotto, Ugur Sahin, Anthony Kong |
| المصدر: | International Journal of Molecular Sciences, Vol 22, Iss 14, p 7583 (2021) |
| بيانات النشر: | MDPI AG, 2021. |
| سنة النشر: | 2021 |
| المجموعة: | LCC:Biology (General) LCC:Chemistry |
| مصطلحات موضوعية: | synchronous multiple primary malignancies, recurrent head and neck squamous cell carcinoma (HNSCC), somatic single nucleotide variants, germline variants, immune cell infiltration, whole exome sequencing (WES), Biology (General), QH301-705.5, Chemistry, QD1-999 |
| الوصف: | Synchronous primary malignancies occur in a small proportion of head and neck squamous cell carcinoma (HNSCC) patients. Here, we analysed three synchronous primaries and a recurrence from one patient by comparing the genomic and transcriptomic profiles among the tumour samples and determining the recurrence origin. We found remarkable levels of heterogeneity among the primary tumours, and through the patterns of shared mutations, we traced the origin of the recurrence. Interestingly, the patient carried germline variants that might have predisposed him to carcinogenesis, together with a history of alcohol and tobacco consumption. The mutational signature analysis confirmed the impact of alcohol exposure, with Signature 16 present in all tumour samples. Characterisation of immune cell infiltration highlighted an immunosuppressive environment in all samples, which exceeded the potential activity of T cells. Studies such as the one described here have important clinical value and contribute to personalised treatment decisions for patients with synchronous primaries and matched recurrences. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 1422-0067 1661-6596 |
| Relation: | https://www.mdpi.com/1422-0067/22/14/7583; https://doaj.org/toc/1661-6596; https://doaj.org/toc/1422-0067 |
| DOI: | 10.3390/ijms22147583 |
| URL الوصول: | https://doaj.org/article/795d2a83c9244affbe702ccb70fab064 |
| رقم الأكسشن: | edsdoj.795d2a83c9244affbe702ccb70fab064 |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text Finder | تدمد: | 14220067 16616596 |
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| DOI: | 10.3390/ijms22147583 |