Evidence map›Paper›PMID 32430494›Full record

ReviewBlood2020

Secondary leukemia in patients with germline transcription factor mutations (RUNX1, GATA2, CEBPA).

Anna L Brown, Christopher N Hahn, Hamish S Scott

Open access · bronzeAbstract readReview
In one paragraph

Review in Blood, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 61 papers.

0numbers the graph read from it
0cells of the map it votes in
61citing papers in PubMed
8.7field-weighted citation impact, top 2% 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

61 citing papers in PubMed, 91 citations in OpenAlex.

  1. Article
  2. New views on VUSs in RUNX1-FPD.Blood advances · 2026
    Article
  3. Review
  4. Article
  5. Observational
  6. Article
  7. Article
  8. Article
  9. Review
  10. Article
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  12. Review
  13. Article
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  15. Article
  16. Update on Recommendations for Surveillance for Children with Predisposition to Hematopoietic Malignancy.Clinical cancer research : an official journal of the American Association for Cancer Research · 2024
    Review
  17. Article
  18. Article
  19. Review
  20. Review

1 more citing papers are in PubMed but not listed here.

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 1 institution in 1 country.

Anna L BrownDepartment of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia.
Christopher N HahnDepartment of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia.
Hamish S ScottDepartment of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia.
South Australia Pathology · AU

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Recognition that germline mutations can predispose individuals to blood cancers, often presenting as secondary leukemias, has largely been driven in the last 20 years by studies of families with inherited mutations in the myeloid transcription factors (TFs) RUNX1, GATA2, and CEBPA. As a result, in 2016, classification of myeloid neoplasms with germline predisposition for each of these and other genes was added to the World Health Organization guidelines. The incidence of germline mutation carriers in the general population or in various clinically presenting patient groups remains poorly defined for reasons including that somatic mutations in these genes are common in blood cancers, and our ability to distinguish germline (inherited or de novo) and somatic mutations is often limited by the laboratory analyses. Knowledge of the regulation of these TFs and their mutant alleles, their interaction with other genes and proteins and the environment, and how these alter the clinical presentation of patients and their leukemias is also incomplete. Outstanding questions that remain for patients with these germline mutations or their treating clinicians include: What is the natural course of the disease? What other symptoms may I develop and when? Can you predict them? Can I prevent them? and What is the best treatment? The resolution of many of the remaining clinical and biological questions and effective evidence-based treatment of patients with these inherited mutations will depend on worldwide partnerships among patients, clinicians, diagnosticians, and researchers to aggregate sufficient longitudinal clinical and laboratory data and integrate these data with model systems.

Indexed as

Genes, NeoplasmGerm-Line MutationAge of OnsetBlood Cell CountCCAAT-Enhancer-Binding ProteinsCore Binding Factor Alpha 2 SubunitDisease ManagementEarly Detection of CancerForecastingGATA2 Transcription FactorGenetic CounselingGenetic Predisposition to DiseaseHumansLeukemia, Myeloid, AcuteMyelodysplastic SyndromesNeoplasms, Second PrimaryCCAAT-Enhancer-Binding ProteinsCEBPA protein, humanCore Binding Factor Alpha 2 SubunitGATA2 protein, humanGATA2 Transcription FactorRUNX1 protein, human

Identifiers

PMID32430494
PMCPMC7332898
OpenAlexW3027326414

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.