Evidence map›Paper›PMID 34870338›Full record

ReviewClinical endocrinology2022

Investigating the role of somatic sequencing platforms for phaeochromocytoma and paraganglioma in a large UK cohort.

Bettina Winzeler, Nicola Tufton, Eugenie S Lim, Ben G Challis, Soo-Mi Park, Louise Izatt, Paul V Carroll, Anand Velusamy, Tony Hulse, Benjamin C Whitelaw and 7 more

Registry-linked trialOpen access · hybridAbstract readReview
PubMed Full text at PMC Publisher
In one paragraph

Review in Clinical endocrinology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT07680205 (An Experimental Pilot Study to Investigate Changes in Catecholamine Synthesis and Metabolism in Patients With Molecularly Profiled Phaeochromocytoma and Paraganglioma Taking Belzutifan), which is not on this map. Cited by 6 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed, 1 pooled it
1.0field-weighted citation impact, top 22% of its field
1 · What the graph read from 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.

2 · The registry

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.

NCT07680205 phase2recruitingnot on this mapstarted 2026, after this paper: background citation

An Experimental Pilot Study to Investigate Changes in Catecholamine Synthesis and Metabolism in Patients With Molecularly Profiled Phaeochromocytoma and Paraganglioma Taking Belzutifan

TypeinterventionalSponsorCambridge University Hospitals NHS Foundation TrustRan2026 to 2027Enrolled12ConditionsPheochromocytoma and Paraganglioma (PPGL), Pheochromocytoma Malignant, Pheochromocytoma, Metastatic, Pheochromocytoma/ParagangliomaArmsBelzutifan
3 · Its place in the literature

Who cites it

6 citing papers in PubMed, 1 synthesis or guideline pooled it, 8 citations in OpenAlex.

  1. Pooled it
  2. To screen or not to screen: complexity ofEndocrine oncology (Bristol, England) · 2026
    Article
  3. Article
  4. Review
  5. Article
  6. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

17 authors at 6 institutions in 2 countries.

Bettina WinzelerDepartment of Endocrinology, Diabetology and Metabolism, University Hospital Basel, Basel, Switzerland.ORCID 0000-0001-8305-2700
Nicola TuftonDepartment of Endocrinology, St. Bartholomew's Hospital, Barts Health NHS Trust, London, UK.ORCID 0000-0003-2382-9711
Eugenie S LimDepartment of Endocrinology, St. Bartholomew's Hospital, Barts Health NHS Trust, London, UK.
Ben G ChallisDepartment of Endocrinology, Cambridge University Hospital, NHS Foundation Trust, Cambridge, UK.ORCID 0000-0002-1130-2851
Soo-Mi ParkDepartment of Clinical Genetics, Cambridge University Hospital, NHS Foundation Trust, Cambridge, UK.
Louise IzattDepartment of Clinical Genetics, Guy's and St. Thomas' NHS Foundation Trust, London, UK.ORCID 0000-0003-1258-4843
Paul V CarrollDepartment of Endocrinology, Guy's and St. Thomas' NHS Foundation Trust, London, UK.
Anand VelusamyDepartment of Endocrinology, Guy's and St. Thomas' NHS Foundation Trust, London, UK.
Tony HulseDepartment of Paediatric Endocrinology, Evelina London Children's Hospital, Guy's and St. Thomas' NHS Foundation Trust, London, UK.
Benjamin C WhitelawDepartment of Endocrinology, King's College Hospital NHS Foundation Trust, London, UK.
Ezequiel MartinDepartment of Medical Genetics, and Cancer Research, UK Cambridge Centre, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.
Fay RodgerDepartment of Medical Genetics, and Cancer Research, UK Cambridge Centre, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.
Melanie MaranianDepartment of Medical Genetics, and Cancer Research, UK Cambridge Centre, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.
Graeme R ClarkDepartment of Medical Genetics, and Cancer Research, UK Cambridge Centre, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.
Scott A AkkerDepartment of Endocrinology, St. Bartholomew's Hospital, Barts Health NHS Trust, London, UK.ORCID 0000-0003-3893-3116
Eamonn R MaherDepartment of Medical Genetics, and Cancer Research, UK Cambridge Centre, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.
Ruth T CaseyDepartment of Medical Genetics, and Cancer Research, UK Cambridge Centre, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.ORCID 0000-0003-4058-3135
University of Cambridge · GBGuy's and St Thomas' NHS Foundation Trust · GBSt Bartholomew's Hospital · GBCambridge University Hospitals NHS Foundation Trust · GBKing's College Hospital NHS Foundation Trust · GBUniversity of Basel · CH

Funding

Department of HealthMedical Research Council MR/W001101/1
6 · The paper itself

Abstract

objectivesPhaeochromocytomas and paragangliomas (PPGL) are rare neuroendocrine tumours with malignant potential and a hereditary basis in almost 40% of patients. Germline genetic testing has transformed the management of PPGL enabling stratification of surveillance approaches, earlier diagnosis and predictive testing of at-risk family members. Recent studies have identified somatic mutations in a further subset of patients, indicating that molecular drivers at either a germline or tumour level can be identified in up to 80% of PPGL cases. The aim of this study was to investigate the clinical utility of somatic sequencing in a large cohort of patients with PPGL in the United Kingdom. DESIGN AND PATIENTS: Prospectively collected matched germline and tumour samples (development cohort) and retrospectively collected tumour samples (validation cohort) of patients with PPGL were investigated. MEASUREMENTS: Clinical characteristics of patients were assessed and tumour and germline DNA was analysed using a next-generation sequencing strategy. A screen for variants within 'mutation hotspots' in 68 human cancer genes was performed.

resultsOf 141 included patients, 45 (32%) had a germline mutation. In 37 (26%) patients one or more driver somatic variants were identified including 26 likely pathogenic or pathogenic variants and 19 variants of uncertain significance. Pathogenic somatic variants, observed in 25 (18%) patients, were most commonly identified in the VHL, NF1, HRAS and RET genes. Pathogenic somatic variants were almost exclusively identified in patients without a germline mutation (all but one), suggesting that somatic sequencing is likely to be most informative for those patients with negative germline genetic test results.

conclusionsSomatic sequencing may further stratify surveillance approaches for patients without a germline genetic driver and may also inform targeted therapeutic strategies for patients with metastatic disease.

Indexed as

Adrenal Gland NeoplasmsParagangliomaPheochromocytomaGenetic Predisposition to DiseaseGerm-Line MutationHumansRetrospective Studiesparagangliomaphaeochromocytomasomatic variant

Identifiers

PMID34870338
PMCPMC9543043
OpenAlexW4200154777

What OpenQuestion holds

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Read underepoch 390

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.