Evidence map›Paper›PMID 33328584›Full record

ReviewNature reviews. Cancer2021

Advances in germline predisposition to acute leukaemias and myeloid neoplasms.

Jeffery M Klco, Charles G Mullighan

Open access · greenAbstract readReview
In one paragraph

Review in Nature reviews. Cancer, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 98 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
98citing papers in PubMed, 1 pooled it
10.2field-weighted citation impact, top 1% 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

98 citing papers in PubMed, 1 synthesis or guideline pooled it, 142 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Article
  4. Review
  5. Article
  6. Article
  7. Article
  8. Article
  9. Germline DDX41 mutations in myeloid neoplasms: a comprehensive review.The Korean journal of internal medicine · 2026
    Review
  10. Article
  11. Article
  12. Article
  13. Article
  14. Article
  15. Review
  16. Article
  17. Article
  18. Genetic Predisposition to Hematologic Malignancies.Cold Spring Harbor perspectives in medicine · 2025
    Review
  19. Article
  20. Review

38 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

2 authors at 1 institution in 1 country.

Jeffery M KlcoDepartment of Pathology and the Hematological Malignancies Program, St. Jude Children's Research Hospital, Memphis, TN, USA. jeffery.klco@stjude.org.ORCID http://orcid.org/0000-0003-2961-6960
Charles G MullighanDepartment of Pathology and the Hematological Malignancies Program, St. Jude Children's Research Hospital, Memphis, TN, USA. charles.mullighan@stjude.org.ORCID http://orcid.org/0000-0002-1871-1850
St. Jude Children's Research Hospital · US

Funding

Viral Vector Technology (VVTSR)P30CA021765 · NCI · ST. JUDE CHILDREN'S RESEARCH HOSPITAL · PI CHARLES ROBERTS · 1985 to 2026
$166.9M
Translating genomic discoveries to improved outcomes for high risk acute leukemiaR35CA197695 · NCI · ST. JUDE CHILDREN'S RESEARCH HOSPITAL · PI Charles G Mullighan · 2017 to 2026
$11.4M
Cellular and functional impact of SAMD9L mutations on hematopoiesis and myelodysplasiaR01HL144653 · NHLBI · ST. JUDE CHILDREN'S RESEARCH HOSPITAL · PI KLCO, JEFFERY M · 2019 to 2023
$2.2M
NCI NIH HHS P30 CA021765NCI NIH HHS R35 CA197695NHLBI NIH HHS R01 HL144653
6 · The paper itself

Abstract

Although much work has focused on the elucidation of somatic alterations that drive the development of acute leukaemias and other haematopoietic diseases, it has become increasingly recognized that germline mutations are common in many of these neoplasms. In this Review, we highlight the different genetic pathways impacted by germline mutations that can ultimately lead to the development of familial and sporadic haematological malignancies, including acute lymphoblastic leukaemia, acute myeloid leukaemia (AML) and myelodysplastic syndrome (MDS). Many of the genes disrupted by somatic mutations in these diseases (for example, TP53, RUNX1, IKZF1 and ETV6) are the same as those that harbour germline mutations in children and adolescents who develop these malignancies. Moreover, the presumption that familial leukaemias only present in childhood is no longer true, in large part due to the numerous studies demonstrating germline DDX41 mutations in adults with MDS and AML. Lastly, we highlight how different cooperating events can influence the ultimate phenotype in these different familial leukaemia syndromes.

Indexed as

Disease ProgressionGenetic Predisposition to DiseaseGerm-Line MutationHumansLeukemia, Myeloid, AcuteMyelodysplastic SyndromesPhenotypePrecursor Cell Lymphoblastic Leukemia-Lymphoma

Identifiers

PMID33328584
PMCPMC8404376
OpenAlexW3112107652

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.