ArticleThe Journal of clinical endocrinology and metabolism2022
Somatic Mutation Profiling in Head and Neck Paragangliomas.
Article in The Journal of clinical endocrinology and metabolism, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 12 citations in OpenAlex.
- Frequency and spectrum of mutations in human sperm measured using duplex sequencing correlate with trio-based de novo mutation analyses.Scientific reports · 2024Article
- Management and follow-up strategies for patients with head and neck paraganglioma.European journal of endocrinology · 2024Article
- Intratumoral Microbiome in Head and Neck Paragangliomas.International journal of molecular sciences · 2024Article
- Genetic changes in theFrontiers in endocrinology · 2024Article
- Comprehensive Genetic Study of Malignant Cervical Paraganglioma.International journal of molecular sciences · 2023Article
- TheInternational journal of molecular sciences · 2022Article
- Somatic Mutation Profiling in Head and Neck Paragangliomas.The Journal of clinical endocrinology and metabolism · 2022Article
- Cancer Therapeutic Potential and Prognostic Value of the SLC25 Mitochondrial Carrier Family: A Review.Cancer control : journal of the Moffitt Cancer CenterReview
- Delayed and Long-Lasting Response to 177Lu-DOTATATE in a Head and Neck Paraganglioma: Case Report and Literature Review.Case reports in oncologyArticle
Corrections and comments
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Authors and funding
14 authors at 2 institutions in 1 country.
Funding
Abstract
contextHead and neck paragangliomas (HNPGLs) are rare neoplasms with a high degree of heritability. Paragangliomas present as polygenic diseases caused by combined alterations in multiple genes; however, many driver changes remain unknown.
objectiveThe objective of the study was to analyze somatic mutation profiles in HNPGLs.
methodsWhole-exome sequencing of 42 tumors and matched normal tissues obtained from Russian patients with HNPGLs was carried out. Somatic mutation profiling included variant calling and utilizing MutSig and SigProfiler packages.
results57% of patients harbored germline and somatic variants in paraganglioma (PGL) susceptibility genes or potentially related genes. Somatic variants in novel genes were found in 17% of patients without mutations in any known PGL-related genes. The studied cohort was characterized by 6 significantly mutated genes: SDHD, BCAS4, SLC25A14, RBM3, TP53, and ASCC1, as well as 4 COSMIC single base substitutions (SBS)-96 mutational signatures (SBS5, SBS29, SBS1, and SBS7b). Tumors with germline variants specifically displayed SBS11 and SBS19, when an SBS33-specific mutational signature was identified for cases without those. Beta allele frequency analysis of copy number variations revealed loss of heterozygosity of the wild-type allele in 1 patient with germline mutation c.287-2A>G in the SDHB gene. In patients with germline mutation c.A305G in the SDHD gene, frequent potential loss of chromosome 11 was observed.
conclusionThese results give an understanding of somatic changes and the mutational landscape associated with HNPGLs and are important for the identification of molecular mechanisms involved in tumor development.
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