ArticleThe Journal of clinical endocrinology and metabolism2014
Rare germline mutations identified by targeted next-generation sequencing of susceptibility genes in pheochromocytoma and paraganglioma.
Article in The Journal of clinical endocrinology and metabolism, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 87 papers, 1 of them a synthesis that pooled it.
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Who cites it
87 citing papers in PubMed, 1 synthesis or guideline pooled it, 172 citations in OpenAlex.
- Genotype-phenotype correlations in pheochromocytoma and paraganglioma: a systematic review and individual patient meta-analysis.Endocrine-related cancer · 2019Pooled it
- Familial erythrocytosis associated with anBMJ case reports · 2026Article
- Bilateral pheochromocytoma: case series and review of treatment strategies based on genetic mutations.Translational andrology and urology · 2026Article
- Case report and literature review: a case of rare papillary thyroid carcinoma combined with paraganglioma.Frontiers in oncology · 2026Article
- The evolving roles of pathologists in paragangliomas and pheochromocytomas.Virchows Archiv : an international journal of pathology · 2026Review
- Assessment of HIF2α mutational pathogenicity using microscale thermophoresis.Biology methods & protocols · 2026Review
- Postnatal sustentacular cells as chromaffin progenitors and tumor cells of origin in VHL-related paragangliomas.NPJ precision oncology · 2025Article
- Multi-omic analysis of SDHB-deficient pheochromocytomas and paragangliomas identifies metastasis and treatment-related molecular profiles.Nature communications · 2025Article
- 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
- Genetic variants and down-regulation of CACNA1H in pheochromocytoma.Endocrine-related cancer · 2024Article
- Genetic and Molecular Biomarkers in Aggressive Pheochromocytomas and Paragangliomas.International journal of molecular sciences · 2024Review
- Multi-omic analysis of SDHB-deficient pheochromocytomas and paragangliomas identifies metastasis and treatment-related molecular profiles.Research square · 2024Article
- Identification of Predictors of Metastatic Potential in Paragangliomas to Develop a Prognostic Score (PSPGL).Journal of the Endocrine Society · 2024Article
- Patient Sex and Origin Influence Distribution of Driver Genes and Clinical Presentation of Paraganglioma.Journal of the Endocrine Society · 2024Article
- Deficiency in PHD2-mediated hydroxylation of HIF2α underlies Pacak-Zhuang syndrome.Communications biology · 2024Article
- Somatic EPAS1 Variants in Pheochromocytoma and Paraganglioma in Patients With Sickle Cell Disease.The Journal of clinical endocrinology and metabolism · 2023Article
- Development and validation of a novel nomogram predicting pseudohypoxia type pheochromocytomas and paragangliomas.Journal of endocrinological investigation · 2023Article
- Management of pheochromocytomas and paragangliomas: Review of current diagnosis and treatment options.Cancer medicine · 2023Review
27 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
9 authors at 4 institutions in 2 countries.
Funding
Abstract
contextPheochromocytomas and paragangliomas have a highly diverse genetic background, with a third of the cases carrying a germline mutation in 1 of 14 identified genes.
objectiveThis study aimed to evaluate next-generation sequencing for more efficient genetic testing of pheochromocytoma and paraganglioma and to establish germline and somatic mutation frequencies for all known susceptibility genes.
designA targeted next-generation sequencing approach on an Illumina MiSeq instrument was used for a mutation analysis in 86 unselected pheochromocytoma and paraganglioma tumor samples. The study included the genes EGLN1, EPAS1, KIF1Bβ, MAX, MEN1, NF1, RET, SDHA, SDHB, SDHC, SDHD, SDHAF2, TMEM127, and VHL. RESULTS were verified in tumor and constitutional DNA with Sanger sequencing.
resultsIn all cases with clinical syndromes or known germline mutations, a mutation was detected in the expected gene. Among 68 nonfamilial tumors, 32 mutations were identified in 28 of the samples (41%), including germline mutations in EGLN1, KIF1Bβ, SDHA, SDHB, and TMEM127 and somatic mutations in EPAS1, KIF1Bβ, MAX, NF1, RET, and VHL, including one double monoallelic EPAS1 mutation.
conclusionsTargeted next-generation sequencing proved to be fast and cost effective for the genetic analysis of pheochromocytoma and paraganglioma. More than half of the tumors harbored mutations in the investigated genes. Notably, 7% of the apparently sporadic cases carried germline mutations, highlighting the importance of comprehensive genetic testing. KIF1Bβ, which previously has not been investigated in a large cohort, appears to be an equally important tumor suppressor as MAX and TMEM127 and could be considered for genetic testing of these patients.
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