ArticlePloS one2014
Integrative genetic characterization and phenotype correlations in pheochromocytoma and paraganglioma tumours.
Article in PloS one, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 2 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
22 citing papers in PubMed, 2 syntheses or guidelines pooled it, 39 citations in OpenAlex.
- The genetic differences between types 1 and 2 in von Hippel-Lindau syndrome: comprehensive meta-analysis.BMC ophthalmology · 2024Pooled it
- A meta-analysis of different von Hippel Lindau mutations: are they related to retinal capillary hemangioblastoma?Molecular genetics and genomics : MGG · 2022Pooled it
- Article
- Novel Gene Variants in a Nationwide Cohort of Patients with Pheochromocytoma and Paraganglioma.International journal of molecular sciences · 2024Article
- [Metastatic pheochromocytoma in multiple endocrine neoplasia type 2A].Problemy endokrinologii · 2024Article
- Identification of a VHL gene mutation in atypical Von Hippel-Lindau syndrome: genotype-phenotype correlation and gene therapy perspective.Cancer cell international · 2021Article
- Metastatic cluster 2-related pheochromocytoma/paraganglioma: a single-center experience and systematic review.Endocrine connections · 2021Article
- Functional significance of germline EPAS1 variants.Endocrine-related cancer · 2021Article
- Pathologic features and clinical course of a non-functioning primary pulmonary paraganglioma: A case report.Annals of medicine and surgery (2012) · 2020Article
- Review
- 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
- New Perspectives on Pheochromocytoma and Paraganglioma: Toward a Molecular Classification.Endocrine reviews · 2017Review
- PheoSeq: A Targeted Next-Generation Sequencing Assay for Pheochromocytoma and Paraganglioma Diagnostics.The Journal of molecular diagnostics : JMD · 2017Article
- Global DNA Methylation Analysis Identifies Two Discrete clusters of Pheochromocytoma with Distinct Genomic and Genetic Alterations.Scientific reports · 2017Article
- A Somatic HIF2α Mutation-Induced Multiple and Recurrent Pheochromocytoma/Paraganglioma with Polycythemia: Clinical Study with Literature Review.Endocrine pathology · 2017Review
- Precision medicine in pheochromocytoma and paraganglioma: current and future concepts.Journal of internal medicine · 2016Review
- A Rare Case of Adrenal Pheochromocytoma with Unusual Clinical and Biochemical Presentation: A Case Report and Literature Review.Oman medical journal · 2015Article
- Bioinformatic Challenges in Clinical Diagnostic Application of Targeted Next Generation Sequencing: Experience from Pheochromocytoma.PloS one · 2015Article
- Diagnosis and management of pheochromocytoma: a practical guide to clinicians.Current hypertension reports · 2014Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundAbout 60% of Pheochromocytoma (PCC) and Paraganglioma (PGL) patients have either germline or somatic mutations in one of the 12 proposed disease causing genes; SDHA, SDHB, SDHC, SDHD, SDHAF2, VHL, EPAS1, RET, NF1, TMEM127, MAX and H-RAS. Selective screening for germline mutations is routinely performed in clinical management of these diseases. Testing for somatic alterations is not performed on a regular basis because of limitations in interpreting the results.
aimThe purpose of the study was to investigate genetic events and phenotype correlations in a large cohort of PCC and PGL tumours.
methodsA total of 101 tumours from 89 patients with PCC and PGL were re-sequenced for a panel of 10 disease causing genes using automated Sanger sequencing. Selected samples were analysed with Multiplex Ligation-dependent Probe Amplification and/or SNParray.
resultsPathogenic genetic variants were found in tumours from 33 individual patients (37%), 14 (16%) were discovered in constitutional DNA and 16 (18%) were confirmed as somatic. Loss of heterozygosity (LOH) was observed in 1/1 SDHB, 11/11 VHL and 3/3 NF1-associated tumours. In patients with somatic mutations there were no recurrences in contrast to carriers of germline mutations (P = 0.022). SDHx/VHL/EPAS1 associated cases had higher norepinephrine output (P = 0.03) and lower epinephrine output (P<0.001) compared to RET/NF1/H-RAS cases.
conclusionSomatic mutations are frequent events in PCC and PGL tumours. Tumour genotype may be further investigated as prognostic factors in these diseases. Growing evidence suggest that analysis of tumour DNA could have an impact on the management of these patients.
Indexed as
Identifiers
What OpenQuestion holds
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.