Evidence map›Paper›PMID 33059362›Full record

ReviewHuman molecular genetics2020

Genetic stratification of inherited and sporadic phaeochromocytoma and paraganglioma: implications for precision medicine.

Ruth Casey, Hartmut P H Neumann, Eamonn R Maher

Open access · bronzeAbstract readReview
In one paragraph

Review in Human molecular genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
19citing papers in PubMed, 1 pooled it
4.1field-weighted citation impact, top 5% 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.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

19 citing papers in PubMed, 1 synthesis or guideline pooled it, 33 citations in OpenAlex.

  1. 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 · 2021
    Guideline
  2. Article
  3. Article
  4. Article
  5. Metastatic Malignant Phaeochromocytoma in Ascitic Fluid: Cytological Diagnosis of a Rare Entity.Cytopathology : official journal of the British Society for Clinical Cytology · 2025
    Article
  6. Current Strategies for Managing Pheochromocytoma and Paraganglioma in Children and Adolescents.Medical science monitor : international medical journal of experimental and clinical research · 2025
    Review
  7. Article
  8. Article
  9. Article
  10. Review
  11. Article
  12. Review
  13. Article
  14. Review
  15. Novel GermlineMedicina (Kaunas, Lithuania) · 2022
    Article
  16. Review
  17. Bladder Paraganglioma Presenting as Post-Micturition Syncope.European journal of case reports in internal medicine · 2022
    Article
  18. Article
  19. Pheochromocytoma due to a novel SDHD variant presenting as unilateral visual loss.Endocrinology, diabetes & metabolism case reports · 2021
    Article
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

3 authors at 2 institutions in 2 countries.

Ruth CaseyDepartment of Medical Genetics, University of Cambridge, Cambridge, CB2 0QQ, UK.
Hartmut P H NeumannSection for Preventive Medicine, Faculty of Medicine, Albert-Ludwigs-University, Freiburg, Germany.
Eamonn R MaherDepartment of Medical Genetics, University of Cambridge, Cambridge, CB2 0QQ, UK.
University of Cambridge · GBUniversity of Freiburg · DE

Funding

Cancer Research UK
6 · The paper itself

Abstract

Over the past two decades advances in genomic technologies have transformed knowledge of the genetic basis of phaeochromocytoma and paraganglioma (PPGL). Though traditional teaching suggested that inherited cases accounted for only 10% of all phaeochromocytoma diagnosis, current estimates are at least three times this proportion. Inherited PPGL is a highly genetically heterogeneous disorder but the most frequently results from inactivating variants in genes encoding subunits of succinate dehydrogenase. Expanding knowledge of the genetics of PPGL has been translated into clinical practice by the provision of widespread testing for inherited PPGL. In this review, we explore how the molecular stratification of PPGL is being utilized to enable more personalized strategies for investigation, surveillance and management of affected individuals and their families. Translating recent genetic research advances into clinical service can not only bring benefits through more accurate diagnosis and risk prediction but also challenges when there is a suboptimal evidence base for the clinical consequences or significance of rare genotypes. In such cases, clinical, biochemical, pathological and functional imaging assessments can all contribute to more accurate interpretation and clinical management.

Indexed as

Germ-Line MutationPrecision MedicineAdrenal Gland NeoplasmsGenetic TestingHumansParagangliomaPheochromocytomaSignal TransductionSuccinate DehydrogenaseSDHD protein, humanSuccinate Dehydrogenase

Identifiers

PMID33059362
PMCPMC7574963
OpenAlexW3092774016

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

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.