Evidence map›Paper›PMID 31212687›Full record

ArticleCancers2019

Optimizing Genetic Workup in Pheochromocytoma and Paraganglioma by Integrating Diagnostic and Research Approaches.

Laura Gieldon, Doreen William, Karl Hackmann, Winnie Jahn, Arne Jahn, Johannes Wagner, Andreas Rump, Nicole Bechmann, Svenja Nölting, Thomas Knösel and 13 more

Abstract read
In one paragraph

Article in Cancers, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.

0numbers the graph read from it
0cells of the map it votes in
25citing papers in PubMed
–field-weighted citation impact
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

25 citing papers in PubMed.

  1. Article
  2. [European journal of nuclear medicine and molecular imaging · 2025
    Article
  3. Article
  4. Article
  5. Article
  6. Non-Susceptibility Gene Variants in Head and Neck Paragangliomas.International journal of molecular sciences · 2024
    Article
  7. Article
  8. Review
  9. Genetic changes in theFrontiers in endocrinology · 2024
    Article
  10. Article
  11. Review
  12. Pheochromocytoma: a changing perspective and current concepts.Therapeutic advances in endocrinology and metabolism · 2023
    Review
  13. TheInternational journal of molecular sciences · 2022
    Article
  14. Targeted Therapies in Pheochromocytoma and Paraganglioma.The Journal of clinical endocrinology and metabolism · 2022
    Review
  15. Somatic Mutation Profiling in Head and Neck Paragangliomas.The Journal of clinical endocrinology and metabolism · 2022
    Article
  16. Review
  17. Article
  18. Review
  19. Article
  20. 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

23 authors.

Laura GieldonInstitute for Clinical Genetics, Medical Faculty Carl Gustav Carus, Technische Universität Dresden, 01307 Dresden, Germany. Laura.Gieldon@tu-dresden.de.
Doreen WilliamCore Unit for Molecular Tumor Diagnostics (CMTD), National Center for Tumor Diseases (NCT), 01307 Dresden, Germany. doreen.william@nct-dresden.de.
Karl HackmannInstitute for Clinical Genetics, Medical Faculty Carl Gustav Carus, Technische Universität Dresden, 01307 Dresden, Germany. Karl.Hackmann@uniklinikum-dresden.de.
Winnie JahnCore Unit for Molecular Tumor Diagnostics (CMTD), National Center for Tumor Diseases (NCT), 01307 Dresden, Germany. w.jahn@dkfz-heidelberg.de.
Arne JahnInstitute for Clinical Genetics, Medical Faculty Carl Gustav Carus, Technische Universität Dresden, 01307 Dresden, Germany. Arne.Jahn@uniklinikum-dresden.de.ORCID 0000-0003-1045-1908
Johannes WagnerInstitute for Clinical Genetics, Medical Faculty Carl Gustav Carus, Technische Universität Dresden, 01307 Dresden, Germany. Johannes.Wagner@uniklinikum-dresden.de.
Andreas RumpInstitute for Clinical Genetics, Medical Faculty Carl Gustav Carus, Technische Universität Dresden, 01307 Dresden, Germany. Andreas.Rump@uniklinikum-dresden.de.
Nicole BechmannInstitute of Clinical Chemistry and Laboratory Medicine, University Hospital Carl Gustav Carus, Medical Faculty Carl Gustav Carus, Technische Universität Dresden, 01307 Dresden, Germany. Nicole.Bechmann@uniklinikum-dresden.de.ORCID 0000-0002-6932-333X
Svenja NöltingMedizinische Klinik und Poliklinik IV, Klinikum der Universität, LMU München, 80336 Munich, Germany. Svenja.Noelting@med.uni-muenchen.de.
Thomas KnöselInstitute of Pathology, Ludwig-Maximilians-University, 80337 Munich, Germany. Thomas.Knoesel@med.uni-muenchen.de.
Volker GudziolDepartment of Otorhinolaryngology Head and Neck Surgery, Municipal Hospital Dresden, 01067 Dresden, Germany. Volker.Gudziol@uniklinikum-dresden.de.
Georgiana ConstantinescuDepartment of Internal Medicine III, University Hospital Carl Gustav Carus at Technische Universität Dresden, 01307 Dresden, Germany. Georgiana.Constantinescu@uniklinikum-dresden.de.
Jimmy MasjkurDepartment of Internal Medicine III, University Hospital Carl Gustav Carus at Technische Universität Dresden, 01307 Dresden, Germany. Jimmy.Masjkur@med.uni-heidelberg.de.
Felix BeuschleinKlinik für Endokrinologie, Diabetologie und Klinische Ernährung, Universitätsspital Zürich, 8091 Zürich, Switzerland. felix.beuschlein@usz.ch.
Henri Jlm TimmersDepartment of Internal Medicine, Radboud University Medical Centre, 6525 Nijmegen, The Netherlands. henri.timmers@radboudumc.nl.
Letizia CanuDepartment of Experimental and Clinical Biomedical Sciences, University of Florence, 50149 Florence, Italy. letizia.canu@unifi.it.ORCID 0000-0003-4995-8108
Karel PacakEunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA. karel@mail.nih.gov.
Mercedes RobledoHereditary Endocrine Cancer Group, CNIO, Madrid, Spain and Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), 28029 Madrid, Spain. mrobledo@cnio.es.
Daniela AustInstitute of Pathology, Tumor and Normal Tissue Bank of the UCC/NCT Dresden, University Hospital Carl Gustav Carus, Technische Universität Dresden, 01307 Dresden, Germany. Daniela.Aust@uniklinikum-dresden.de.
Evelin SchröckInstitute for Clinical Genetics, Medical Faculty Carl Gustav Carus, Technische Universität Dresden, 01307 Dresden, Germany. Evelin.Schroeck@uniklinikum-dresden.de.
Graeme EisenhoferInstitute of Clinical Chemistry and Laboratory Medicine, University Hospital Carl Gustav Carus, Medical Faculty Carl Gustav Carus, Technische Universität Dresden, 01307 Dresden, Germany. Graeme.Eisenhofer@uniklinikum-dresden.de.
Susan RichterInstitute of Clinical Chemistry and Laboratory Medicine, University Hospital Carl Gustav Carus, Medical Faculty Carl Gustav Carus, Technische Universität Dresden, 01307 Dresden, Germany. Susan.Richter@uniklinikum-dresden.de.ORCID 0000-0002-3549-2477
Barbara KlinkInstitute for Clinical Genetics, Medical Faculty Carl Gustav Carus, Technische Universität Dresden, 01307 Dresden, Germany. Barbara.Klink@lns.etat.lu.ORCID 0000-0002-8753-8238

Funding

CRC/Transregio 205/1, B10CRC/Transregio 205/1, B12Deutsche Forschungsgemeinschaft KL 2541/2-1Deutsche Forschungsgemeinschaft RI 2684/1-1Instituto de Salud Carlos III PI17/01796
6 · The paper itself

Abstract

Pheochromocytomas and paragangliomas (PPGL) are rare neuroendocrine tumors with a strong hereditary background and a large genetic heterogeneity. Identification of the underlying genetic cause is crucial for the management of patients and their families as it aids differentiation between hereditary and sporadic cases. To improve diagnostics and clinical management we tailored an enrichment based comprehensive multi-gene next generation sequencing panel applicable to both analyses of tumor tissue and blood samples. We applied this panel to tumor samples and compared its performance to our current routine diagnostic approach. Routine diagnostic sequencing of 11 PPGL susceptibility genes was applied to blood samples of 65 unselected PPGL patients at a single center in Dresden, Germany. Predisposing germline mutations were identified in 19 (29.2%) patients. Analyses of 28 PPGL tumor tissues using the dedicated PPGL panel revealed pathogenic or likely pathogenic variants in known PPGL susceptibility genes in 21 (75%) cases, including mutations in

Indexed as

CNV detectionhereditarynext-generation sequencingparagangliomapheochromocytomasporadic

Identifiers

PMID31212687
PMCPMC6627084

What OpenQuestion holds

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Registered trials

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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.