ArticleInternational journal of endocrinology2015
Profiling of somatic mutations in phaeochromocytoma and paraganglioma by targeted next generation sequencing analysis.
Article in International journal of endocrinology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 44 papers.
What it found
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The trial behind it
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
44 citing papers in PubMed, 90 citations in OpenAlex.
- Presentation of a missense MDH2 variant in a Greek patient with pheochromocytoma.Hormones (Athens, Greece) · 2026Review
- Whole-Genome Landscape of Retinal Hemangioblastomas.Translational vision science & technology · 2026Article
- [European journal of nuclear medicine and molecular imaging · 2025Article
- Metastatic Pheochromocytoma in a Patient With Li-Fraumeni Syndrome.JCEM case reports · 2025Article
- Article
- The Molecular Classification of Pheochromocytomas and Paragangliomas: Discovering the Genomic and Immune Landscape of Metastatic Disease.Endocrine pathology · 2024Review
- Non-Susceptibility Gene Variants in Head and Neck Paragangliomas.International journal of molecular sciences · 2024Article
- Novel Gene Variants in a Nationwide Cohort of Patients with Pheochromocytoma and Paraganglioma.International journal of molecular sciences · 2024Article
- Tumor metabolism in pheochromocytomas: clinical and therapeutic implications.Exploration of targeted anti-tumor therapy · 2024Review
- Article
- Metastatic Pheochromocytoma and Paraganglioma: Somatostatin Receptor 2 Expression, Genetics, and Therapeutic Responses.The Journal of clinical endocrinology and metabolism · 2023Article
- Three Dimensional Models of Endocrine Organs and Target Tissues Regulated by the Endocrine System.Cancers · 2023Review
- Tumour microenvironment in pheochromocytoma and paraganglioma.Frontiers in endocrinology · 2023Review
- Targeted Therapies in Pheochromocytoma and Paraganglioma.The Journal of clinical endocrinology and metabolism · 2022Review
- Investigating the role of somatic sequencing platforms for phaeochromocytoma and paraganglioma in a large UK cohort.Clinical endocrinology · 2022Review
- Novel GLCCI1-BRAF fusion drives kinase signaling in a case of pheochromocytomatosis.European journal of endocrinology · 2022Review
- Personalized Management of Pheochromocytoma and Paraganglioma.Endocrine reviews · 2022Review
- Genetics of Pheochromocytomas and Paragangliomas Determine the Therapeutical Approach.International journal of molecular sciences · 2022Review
- Genetic Alterations in Mitochondrial DNA Are Complementary to Nuclear DNA Mutations in Pheochromocytomas.Cancers · 2022Article
- Potential Biomarkers of Metastasizing Paragangliomas and Pheochromocytomas.Life (Basel, Switzerland) · 2021Review
Corrections and comments
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Authors and funding
15 authors at 9 institutions in 5 countries.
Funding
Abstract
At least 12 genes (FH, HIF2A, MAX, NF1, RET, SDHA, SDHB, SDHC, SDHD, SDHAF2, TMEM127, and VHL) have been implicated in inherited predisposition to phaeochromocytoma (PCC), paraganglioma (PGL), or head and neck paraganglioma (HNPGL) and a germline mutation may be detected in more than 30% of cases. Knowledge of somatic mutations contributing to PCC/PGL/HNPGL pathogenesis has received less attention though mutations in HRAS, HIF2A, NF1, RET, and VHL have been reported. To further elucidate the role of somatic mutation in PCC/PGL/HNPGL tumourigenesis, we employed a next generation sequencing strategy to analyse "mutation hotspots" in 50 human cancer genes. Mutations were identified for HRAS (c.37G>C; p.G13R and c.182A>G; p.Q61R) in 7.1% (6/85); for BRAF (c.1799T>A; p.V600E) in 1.2% (1/85) of tumours; and for TP53 (c.1010G>A; p.R337H) in 2.35% (2/85) of cases. Twenty-one tumours harboured mutations in inherited PCC/PGL/HNPGL genes and no HRAS, BRAF, or TP53 mutations occurred in this group. Combining our data with previous reports of HRAS mutations in PCC/PGL we find that the mean frequency of HRAS/BRAF mutations in sporadic PCC/PGL is 8.9% (24/269) and in PCC/PGL with an inherited gene mutation 0% (0/148) suggesting that HRAS/BRAF mutations and inherited PCC/PGL genes mutations might be mutually exclusive. We report the first evidence for BRAF mutations in the pathogenesis of PCC/PGL/HNPGL.
Identifiers
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.