ArticleThe Journal of molecular diagnostics : JMD2017
PheoSeq: A Targeted Next-Generation Sequencing Assay for Pheochromocytoma and Paraganglioma Diagnostics.
Article in The Journal of molecular diagnostics : JMD, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 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
41 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Multidisciplinary practice guidelines for the diagnosis, genetic counseling and treatment of pheochromocytomas and paragangliomas.Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2021Guideline
- Identifying TMEM127-deficient pheochromocytomas/paragangliomas via RET overexpression by immunohistochemistry.Research square · 2026Article
- The Molecular Classification of Pheochromocytomas and Paragangliomas: Discovering the Genomic and Immune Landscape of Metastatic Disease.Endocrine pathology · 2024Review
- International consensus statement on the diagnosis and management of phaeochromocytoma and paraganglioma in children and adolescents.Nature reviews. Endocrinology · 2024Review
- Germline Mutations and Phenotypic Associations in Korean Patients With Pheochromocytoma and Paraganglioma: A Multicenter Study and Literature Review.Annals of laboratory medicine · 2024Review
- Patient Sex and Origin Influence Distribution of Driver Genes and Clinical Presentation of Paraganglioma.Journal of the Endocrine Society · 2024Article
- Durable and deep response to CVD chemotherapy in SDHB-mutated metastatic paraganglioma: case report.Frontiers in endocrinology · 2024Article
- Somatic EPAS1 Variants in Pheochromocytoma and Paraganglioma in Patients With Sickle Cell Disease.The Journal of clinical endocrinology and metabolism · 2023Article
- [Metastatic risk factors in pheochromocytoma/paraganglioma].Problemy endokrinologii · 2023Review
- 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
- Metabolomics in paraganglioma: applications and perspectives from genetics to therapy.Endocrine-related cancer · 2023Article
- Hypoxia-Inducible Factor 2 Alpha (HIF2α) Inhibitors: Targeting Genetically Driven Tumor Hypoxia.Endocrine reviews · 2023Article
- Pheochromocytoma: a changing perspective and current concepts.Therapeutic advances in endocrinology and metabolism · 2023Review
- Investigating the role of somatic sequencing platforms for phaeochromocytoma and paraganglioma in a large UK cohort.Clinical endocrinology · 2022Review
- Universal Germline Panel Testing for Individuals With Pheochromocytoma and Paraganglioma Produces High Diagnostic Yield.The Journal of clinical endocrinology and metabolism · 2022Article
- Pre- versus post-operative untargeted plasma nuclear magnetic resonance spectroscopy metabolomics of pheochromocytoma and paraganglioma.Endocrine · 2022Article
- Cost-minimization analysis of sequential genetic testing versus targeted next-generation sequencing gene panels in patients with pheochromocytoma and paraganglioma.Annals of medicine · 2021Article
- Precision Medicine in Phaeochromocytoma and Paraganglioma.Journal of personalized medicine · 2021Review
- A Multicenter Epidemiological Study on Second Malignancy in Non-Syndromic Pheochromocytoma/Paraganglioma Patients in Italy.Cancers · 2021Article
Corrections and comments
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Authors and funding
43 authors.
Funding
Abstract
Genetic diagnosis is recommended for all pheochromocytoma and paraganglioma (PPGL) cases, as driver mutations are identified in approximately 80% of the cases. As the list of related genes expands, genetic diagnosis becomes more time-consuming, and targeted next-generation sequencing (NGS) has emerged as a cost-effective tool. This study aimed to optimize targeted NGS in PPGL genetic diagnostics. A workflow based on two customized targeted NGS assays was validated to study the 18 main PPGL genes in germline and frozen tumor DNA, with one of them specifically directed toward formalin-fixed paraffin-embedded tissue. The series involved 453 unrelated PPGL patients, of whom 30 had known mutations and were used as controls. Partial screening using Sanger had been performed in 275 patients. NGS results were complemented with the study of gross deletions. NGS assay showed a sensitivity ≥99.4%, regardless of DNA source. We identified 45 variants of unknown significance and 89 pathogenic mutations, the latter being germline in 29 (7.2%) and somatic in 58 (31.7%) of the 183 tumors studied. In 37 patients previously studied by Sanger sequencing, the causal mutation could be identified. We demonstrated that both assays are an efficient and accurate alternative to conventional sequencing. Their application facilitates the study of minor PPGL genes, and enables genetic diagnoses in patients with incongruent or missing clinical data, who would otherwise be missed.
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