ArticleEndocrine connections2013
Next-generation sequencing in the clinical genetic screening of patients with pheochromocytoma and paraganglioma.
Article in Endocrine connections, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 41 citations in OpenAlex.
- Succinate dehydrogenase-related pheochromocytoma and paraganglioma (SDHx-PPGL): clinical and genetic insights from an Indian study.Endocrine connections · 2025Article
- Analytical Performance of NGS-Based Molecular Genetic Tests Used in the Diagnostic Workflow of Pheochromocytoma/Paraganglioma.Cancers · 2021Article
- Molecular genetic testing strategies used in diagnostic flow for hereditary endocrine tumour syndromes.Endocrine · 2021Review
- Pheochromocytoma and Paraganglioma in Children and Adolescents: Experience of the French Society of Pediatric Oncology (SFCE).Journal of the Endocrine Society · 2020Article
- A Guide to Pheochromocytomas and Paragangliomas.Surgical pathology clinics · 2019Review
- Translational Application of Circulating DNA in Oncology: Review of the Last Decades Achievements.Cells · 2019Review
- Activating FGFR1 Mutations in Sporadic Pheochromocytomas.World journal of surgery · 2018Article
- A Clinical Roadmap to Investigate the Genetic Basis of Pediatric Pheochromocytoma: Which Genes Should Physicians Think About?International journal of endocrinology · 2018Review
- Novel insights into the polycythemia-paraganglioma-somatostatinoma syndrome.Endocrine-related cancer · 2016Article
- Novel SDHB and TMEM127 Mutations in Patients with Pheochromocytoma/Paraganglioma Syndrome.Pathology oncology research : POR · 2016Article
- Next-generation sequencing for the diagnosis of hereditary pheochromocytoma and paraganglioma syndromes.Current opinion in endocrinology, diabetes, and obesity · 2015Review
- SDHB/SDHA immunohistochemistry in pheochromocytomas and paragangliomas: a multicenter interobserver variation analysis using virtual microscopy: a Multinational Study of the European Network for the Study of Adrenal Tumors (ENS@T).Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2015Article
- Paraganglioma and phaeochromocytoma: from genetics to personalized medicine.Nature reviews. Endocrinology · 2015Review
- Rare germline mutations identified by targeted next-generation sequencing of susceptibility genes in pheochromocytoma and paraganglioma.The Journal of clinical endocrinology and metabolism · 2014Article
- Implementation of Cloud based next generation sequencing data analysis in a clinical laboratory.BMC research notes · 2014Article
- MAX mutations status in Swedish patients with pheochromocytoma and paraganglioma tumours.Familial cancer · 2014Article
- Paragangliomas/Pheochromocytomas: clinically oriented genetic testing.International journal of endocrinology · 2014Review
- Integrative genetic characterization and phenotype correlations in pheochromocytoma and paraganglioma tumours.PloS one · 2014Article
Corrections and comments
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundRecent findings have shown that up to 60% of pheochromocytomas (PCCs) and paragangliomas (PGLs) are caused by germline or somatic mutations in one of the 11 hitherto known susceptibility genes: SDHA, SDHB, SDHC, SDHD, SDHAF2, VHL, HIF2A (EPAS1), RET, NF1, TMEM127 and MAX. This list of genes is constantly growing and the 11 genes together consist of 144 exons. A genetic screening test is extensively time consuming and expensive. Hence, we introduce next-generation sequencing (NGS) as a time-efficient and cost-effective alternative.
methodsTumour lesions from three patients with apparently sporadic PCC were subjected to whole exome sequencing utilizing Agilent Sureselect target enrichment system and Illumina Hi seq platform. Bioinformatics analysis was performed in-house using commercially available software. Variants in PCC and PGL susceptibility genes were identified.
resultsWe have identified 16 unique genetic variants in PCC susceptibility loci in three different PCC, spending less than a 30-min hands-on, in-house time. Two patients had one unique variant each that was classified as probably and possibly pathogenic: NF1 Arg304Ter and RET Tyr791Phe. The RET variant was verified by Sanger sequencing.
conclusionsNGS can serve as a fast and cost-effective method in the clinical genetic screening of PCC. The bioinformatics analysis may be performed without expert skills. We identified process optimization, characterization of unknown variants and determination of additive effects of multiple variants as key issues to be addressed by future studies.
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