Evidence map›Paper›PMID 23481210›Full record

ReviewCurrent opinion in endocrinology, diabetes, and obesity2013

Genetics of pheochromocytoma and paraganglioma syndromes: new advances and future treatment options.

Ales Vicha, Zdenek Musil, Karel Pacak

Abstract readReview
In one paragraph

Review in Current opinion in endocrinology, diabetes, and obesity, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.

0numbers the graph read from it
0cells of the map it votes in
29citing papers in PubMed
6.4field-weighted citation impact, top 3% 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

29 citing papers in PubMed, 55 citations in OpenAlex.

  1. Review
  2. Article
  3. Review
  4. Article
  5. Article
  6. Theragnostic Aspects and Radioimmunotherapy in Pediatric Tumors.International journal of molecular sciences · 2020
    Review
  7. Review
  8. Pheochromocytoma Due toEuropean endocrinology · 2020
    Article
  9. Article
  10. Review
  11. Review
  12. Review
  13. Review
  14. The 3PAs: An Update on the Association of Pheochromocytomas, Paragangliomas, and Pituitary Tumors.Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme · 2019
    Review
  15. The clinical genetics of phaeochromocytoma and paraganglioma.Archives of endocrinology and metabolism · 2017
    Review
  16. Review
  17. Review
  18. Pheochromocytoma: Gasping for Air.Hormones & cancer · 2015
    Review
  19. Article
  20. Much more than anxiety...BMJ case reports · 2015
    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.

Ales VichaDepartment of Pediatric Hematology and Oncology, 2nd Faculty of Medicine, Charles University, University Hospital Motol, Czech Republic.
Zdenek Musil
Karel Pacak
Charles University · CZNational Institutes of Health · US

Funding

Diagnosis, Pathophysiology And Molecular Biology of Pheochromocytoma and ParagangliomaZIAHD008735 · NICHD · EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH & HUMAN DEVELOPMENT · PI PACAK, KAREL · 2009 to 2024
$28.4M
Diagnosis &Pathophysiology of PheochromocytomaZ01HD008735 · NICHD · EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH & HUMAN DEVELOPMENT · PI PACAK, KAREL · 2001 to 2008
$1.7M
Intramural NIH HHS Z01 HD008735
6 · The paper itself

Abstract

purpose of reviewTo summarize the recent advances in the genetics of pheochromocytoma and paraganglioma (PHEO/PGL), focusing on the new susceptibility genes and dividing PHEOs/PGLs into two groups based on their transcription profile. RECENT

findingsRecently, TMEM127, MYC-associated factor X, and hypoxia-inducible factor (HIF) 2α have been described in the pathogenesis of PHEOs/PGLs. Thus, now about 30-40% of these tumors are linked to the germline mutations, which also include mutations in the VHL, RET, NF1, SDHx, and SDHAF2 genes. Furthermore, PHEOs/PGLs have been divided into two groups, cluster 1 (SDHx/VHL) and cluster 2 (RET/NF1), based on the transcription profile revealed by genome-wide expression microarray analysis. SUMMARY: PHEOs/PGLs are the most inherited tumors among (neuro)endocrine tumors. Future approaches in genetics, including whole-genome sequencing, will allow the discovery of additional PHEO/PGL susceptibility genes. The current division of PHEOs/PGLs into cluster 1 and 2 provides us with additional knowledge related to the pathogenesis of these tumors, including the introduction of new treatment options for patients with metastatic PHEOs/PGLs. New discoveries related to the role of the HIF-1/HIF-2α genes in the pathogenesis of almost all inherited PHEOs/PGLs may call for a new regrouping of these tumors and discoveries of new treatment targets.

Indexed as

MutationAdrenal Gland NeoplasmsGenetic Predisposition to DiseaseHumansIsoenzymesNeurofibromin 1ParagangliomaPheochromocytomaProto-Oncogene Proteins c-retSuccinate DehydrogenaseVon Hippel-Lindau Tumor Suppressor ProteinIsoenzymesNeurofibromin 1Proto-Oncogene Proteins c-retRET protein, humanSuccinate DehydrogenaseVHL protein, humanVon Hippel-Lindau Tumor Suppressor Protein

Identifiers

PMID23481210
PMCPMC4711348
OpenAlexW2130745966

What OpenQuestion holds

Textmetadata
LicenceTDM
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.