{"database":"EGA","file_versions":[],"scores":null,"additional":{"omics_type":["Genomics"],"study_type":["Other"],"full_dataset_link":["https://ega-archive.org/studies/EGAS00001004857"],"host":["EGA"],"description":["EGA study EGAS00001004857"],"dataset_title":["RNA-seq data from the tumor samples of a head and neck cancer patient","Whole-exome sequencing data from a head and neck cancer patient"],"category":["restricted"],"repository":["EGA"],"name_synonyms":["Relapse, Neck Cancer, Head Neoplasms, determination, head and neck neoplasm, neoplasia, Neoplasms, Cancer of the Head, Neck Neoplasms, neoplastic disease, Head Cancer, Tumor, Cancer of the Neck, tumours, NEOPL, Head, neoplastic growth, Client., Head and Neck Cancer, Head and Neck Neoplasm, Recrudescence, Head Neoplasm, chemical analysis, Neoplasm, UADT Neoplasm, Upper Aerodigestive Tract, Relapses, Neck Cancers, neoplasm, UADT, Upper Aerodigestive Tract Neoplasms, Cancer of the Head and Neck, Upper Aerodigestive Tract Neoplasm, Recrudescences, cell process disease, tumor disease, neoplasm (disease), Recurrences, tumour, patient, Cancers, Cancer of Head and Neck, Head Cancers, disease of cellular proliferation, Neck, UADT Neoplasms, head and neck tumours, MALIGNANT AND UNSPECIFIED (INCL CYSTS AND POLYPS), Neck Neoplasm, head and neck tumors, carcinoma of the neck, Head and Neck, Patient, Clients, Cancer of Neck, tumour of head and neck, assay, head/neck neoplasm, tumor, other neoplasm, NEOPLASMS BENIGN, Neoplastic Growth, Neoplasia, Cancer of Head, Tumors, Cancer"],"description_synonyms":["Tumorigeneses, Activity, determination, Aspect, neoplasia, Neoplasms, etanol, Head And Neck, Squamous Cell Carcinoma, Tumor, 1-hydroxyethane, Ximpact, NEOPL, alcohol, Mutations, Aethylalkohol, Client., reduced, Alkohol, Impacts, Relapses, tiny, HNSCC, Environmental Impacts, neoplasm, imprinted and ancient gene protein, treatment, proportion, proportionality to, Recrudescences, cell process disease, tumor disease, Recurrences, neoplasm (disease), hypoplasia, Oncogeneses, Head And Neck Squamous Cell Carcinomas, tumour, PMNC, Oral Squamous Cell Carcinomas, Histories, Aethanol, [CH2Me(OH)], Environmental Impact, MALIGNANT AND UNSPECIFIED (INCL CYSTS AND POLYPS), C2H5OH, Dehydrated ethanol, Clients, heterogeneity, disease management, Therapies, tumor, Squamous Cell of Head and Neck, Neoplastic Growth, Tumors, spiritus vini, small, Therapy, Relapse, Carcinoma, Squamous Cell Carcinoma of the Mouth, immune cell, Squamous Cell Carcinoma of the Nasal Cavity, Squamous Cell Carcinoma of the Head and Neck, Nicotiana tabacum var. Samsun, neoplastic disease, Ethyl alcohol, PMN cell, Squamous Cell Carcinoma of the Larynx, Historical Aspects, Tumorigenesis, historical aspects, tobacco, Client, Historical Aspect, tumours, impact-a, Cell, Hypopharyngeal Squamous Cell Carcinoma, Impact, Environmental, neoplastic growth, Recrudescence, Nicotania tabacum, chemical analysis, alcool ethylique, Oral Squamous Cell Carcinoma, imprinted and ancient gene protein homolog, IMPACT, American tobacco, [OEtH], Oropharyngeal Squamous Cell Carcinoma, leucocyte, EtOH, underdeveloped, Laryngeal Squamous Cell Carcinoma, proportionality, Carcinogeneses, carcinoma of the head and neck, rate, Oral Tongue Squamous Cell Carcinoma, patient, disease of cellular proliferation, alcohol etilico, Methylcarbinol, Treatments, white blood cell, hydroxyethane, Oral Cavity Squamous Cell Carcinoma, Patient, Oncogenesis, Therapeutic, Squamous Cell Carcinoma of Larynx, historical notes, common tobacco, quotient, Environments, Treatment, Head and Neck Squamous Cell Carcinoma, assay, Aspects, other neoplasm, E430016J11Rik, General activity, NEOPLASMS BENIGN, Neoplasia, RWDD5, Historical, polymorphonuclear cell"],"additional_accession":[]},"is_claimable":false,"name":"Comprehensive genomic and transcriptomic analysis of three synchronous primary tumours and a recurrence from a head and neck cancer patient","description":"Synchronous primary malignancies occur in a small proportion of head and neck squamous cell carcinoma 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 which might have predisposed him to carcinogenesis, together with a history of alcohol and tobacco consumption. 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.","dates":{"updated":"2021-07-23 11:50:02"},"accession":"EGAS00001004857","cross_references":{"TAXONOMY":["9606"],"EGA":["EGAD00001006654","EGAD00001006653","EGAC00001001424"]}}