ArticleBMC cancer2016
Clinical application of genomic profiling to find druggable targets for adolescent and young adult (AYA) cancer patients with metastasis.
Article in BMC cancer, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 1 of them a synthesis that pooled it.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
20 citing papers in PubMed, 1 synthesis or guideline pooled it, 39 citations in OpenAlex.
- Progress and prospects of targeted therapy and immunotherapy for urachal carcinoma.Frontiers in pharmacology · 2023Pooled it
- Searching the druggable genome using large language models.Bioinformatics (Oxford, England) · 2026Article
- Omics-based exploration of biomarkers and therapeutic targets in olfactory neuroblastoma.Discover oncology · 2026Review
- Searching the Druggable Genome using Large Language Models.bioRxiv : the preprint server for biology · 2026Article
- Updated Insights into the Molecular Pathophysiology of Olfactory Neuroblastoma Using Multi-Omics Analysis.Journal of personalized medicine · 2025Review
- Addressing the knowledge gap in the genomic landscape and tailored therapeutic approaches to adolescent and young adult cancers.ESMO open · 2024Article
- Genomic characterization of an esthesioneuroblastoma with spinal metastases: illustrative case.Journal of neurosurgery. Case lessons · 2023Article
- Genomic profiling and immune landscape of olfactory neuroblastoma in China.Frontiers in oncology · 2023Article
- Surgical and functional outcomes of robot-assisted laparoscopic partial nephrectomy for renal cell carcinoma in adolescents and young adults: a propensity score matching study.International journal of clinical oncology · 2022Article
- The genomics and epigenetics of olfactory neuroblastoma: A systematic review.Laryngoscope investigative otolaryngology · 2021Review
- Comprehensive characterization of distinct genetic alterations in metastatic breast cancer across various metastatic sites.NPJ breast cancer · 2021Article
- Prevalence of APC and PTEN Alterations in Urachal Cancer.Pathology oncology research : POR · 2020Article
- EORTC SPECTA-AYA: A unique molecular profiling platform for adolescents and young adults with cancer in Europe.International journal of cancer · 2020Article
- Access to Clinical Trials for Adolescents and Young Adults With Cancer: A Meta-Research Analysis.JNCI cancer spectrum · 2019Article
- Urachal cancer-current concepts of a rare cancer.Der Pathologe · 2019Review
- [Urachal cancer - current concepts of a rare cancer (German version)].Der Pathologe · 2018Review
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- Genetic and molecular alterations in olfactory neuroblastoma: implications for pathogenesis, prognosis and treatment.Oncotarget · 2016Review
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Corrections and comments
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Authors and funding
11 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundAlthough adolescent and young adult (AYA) cancers are characterized by biological features and clinical outcomes distinct from those of other age groups, the molecular profile of AYA cancers has not been well defined. In this study, we analyzed cancer genomes from rare types of metastatic AYA cancers to identify driving and/or druggable genetic alterations.
methodsProspectively collected AYA tumor samples from seven different patients were analyzed using three different genomics platforms (whole-exome sequencing, whole-transcriptome sequencing or OncoScan™). Using well-known bioinformatics tools (bwa, Picard, GATK, MuTect, and Somatic Indel Detector) and our annotation approach with open access databases (DAVID and DGIdb), we processed sequencing data and identified driving genetic alterations and their druggability.
resultsThe mutation frequencies of AYA cancers were lower than those of other adult cancers (median = 0.56), except for a germ cell tumor with hypermutation. We identified patient-specific genetic alterations in candidate driving genes: RASA2 and NF1 (prostate cancer), TP53 and CDKN2C (olfactory neuroblastoma), FAT1, NOTCH1, and SMAD4 (head and neck cancer), KRAS (urachal carcinoma), EML4-ALK (lung cancer), and MDM2 and PTEN (liposarcoma). We then suggested potential drugs for each patient according to his or her altered genes and related pathways. By comparing candidate driving genes between AYA cancers and those from all age groups for the same type of cancer, we identified different driving genes in prostate cancer and a germ cell tumor in AYAs compared with all age groups, whereas three common alterations (TP53, FAT1, and NOTCH1) in head and neck cancer were identified in both groups.
conclusionWe identified the patient-specific genetic alterations and druggability of seven rare types of AYA cancers using three genomics platforms. Additionally, genetic alterations in cancers from AYA and those from all age groups varied by cancer type.
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