Evidence map›Paper›PMID 25659730›Full record

ReviewBest practice & research. Clinical haematology2015

Genetic predisposition syndromes: when should they be considered in the work-up of MDS?

Daria V Babushok, Monica Bessler

Open access · greenAbstract readReview
In one paragraph

Review in Best practice & research. Clinical haematology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.

0numbers the graph read from it
0cells of the map it votes in
31citing papers in PubMed
3.7field-weighted citation impact, top 6% 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

31 citing papers in PubMed, 62 citations in OpenAlex.

  1. The Journal of international medical research · 2020
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  15. Next-Generation Sequencing ofFrontiers in oncology · 2020
    Article
  16. Genetic predisposition to MDS: diagnosis and management.Hematology. American Society of Hematology. Education Program · 2019
    Article
  17. Article
  18. Article
  19. Review
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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 2 institutions in 1 country.

Daria V BabushokComprehensive Bone Marrow Failure Center, Division of Hematology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA; Division of Hematology, Department of Medicine, Hospital of the University of Pennsylvania, Philadelphia, PA, USA. Electronic address: daria.babushok@uphs.upenn.edu.
Monica BesslerComprehensive Bone Marrow Failure Center, Division of Hematology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA; Division of Hematology, Department of Medicine, Hospital of the University of Pennsylvania, Philadelphia, PA, USA. Electronic address: besslerm@email.chop.edu.
Children's Hospital of Philadelphia · USHospital of the University of Pennsylvania · US

Funding

HEMATOLOGY CLINICAL RESEARCH TRAINING PROGRAMT32HL007439 · NHLBI · UNIVERSITY OF PENNSYLVANIA · PI LAWRENCE F BRASS, PETER S KLEIN · 1985 to 2026
$17.1M
MOLECULAR STUDIES OF BONE MARROW FAILURER01CA105312 · NCI · WASHINGTON UNIVERSITY · PI BESSLER, MONICA · 2004 to 2014
$4.9M
CHANGES IN THE RBC PROTEOME DURING HEALTH AND DISEASER01DK084188 · NIDDK · CHILDREN'S HOSP OF PHILADELPHIA · PI ABDULMALIK, OSHEIZA Y · 2010 to 2014
$2.0M
NCI NIH HHS R01 CA105312NHLBI NIH HHS 5-T32-HL-07439-34NHLBI NIH HHS T32 HL007439NIDDK NIH HHS DK084188NIDDK NIH HHS R01 DK084188
6 · The paper itself

Abstract

Myelodysplastic syndromes (MDS) are clonal hematopoietic disorders characterized by cytopenias, ineffective hematopoiesis, myelodysplasia, and an increased risk of acute myeloid leukemia (AML). While sporadic MDS is primarily a disease of the elderly, MDS in children and young and middle-aged adults is frequently associated with underlying genetic predisposition syndromes. In addition to the classic hereditary bone marrow failure syndromes (BMFS) such as Fanconi Anemia and Dyskeratosis Congenita, in recent years there has been an increased awareness of non-syndromic familial MDS/AML predisposition syndromes such as those caused by mutations in GATA2, RUNX1, CEBPA, and SRP72 genes. Here, we will discuss the importance of recognizing an underlying genetic predisposition syndrome a patient with MDS, will review clinical scenarios when genetic predisposition should be considered, and will provide a practical overview of the common BMFS and familial MDS/AML syndromes which may be encountered in adult patients with MDS.

Indexed as

Genetic Predisposition to DiseaseMutationAdolescentAgedAntineoplastic AgentsCCAAT-Enhancer-Binding ProteinsCore Binding Factor Alpha 2 SubunitDyskeratosis CongenitaFanconi AnemiaGATA2 Transcription FactorHematopoietic Stem Cell TransplantationHumansLeukemia, Myeloid, AcuteMyelodysplastic SyndromesSignal Recognition ParticleAntineoplastic AgentsCCAAT-Enhancer-Binding ProteinsCEBPA protein, humanCore Binding Factor Alpha 2 SubunitGATA2 protein, humanGATA2 Transcription FactorRUNX1 protein, humanSignal Recognition ParticleSRP72 protein, humanbone marrow failure syndromesCEBPACongenital Amegakaryocytic ThrombocytopeniaDiamond-Blackfan AnemiaDyskeratosis CongenitaEmberger Syndromefamilial leukemiafamilial MDSFanconi AnemiaFPD/AMLGATA2genetic predispositionMDSMonoMacmyelodysplastic syndromesRUNX1Severe Congenital NeutropeniaShwachman-Diamond SyndromeSRP72

Identifiers

PMID25659730
PMCPMC4323616
OpenAlexW2111726869

What OpenQuestion holds

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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.