Evidence map›Paper›PMID 30670445›Full record

ReviewBlood2019

Genetic predisposition to MDS: clinical features and clonal evolution.

Alyssa L Kennedy, Akiko Shimamura

Open access · bronzeAbstract readReview
In one paragraph

Review in Blood, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 83 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
83citing papers in PubMed, 2 pooled it
13.4field-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

83 citing papers in PubMed, 2 syntheses or guidelines pooled it, 150 citations in OpenAlex.

  1. Pooled it
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  6. GATA2 deficiency exacerbates chronic liver injuryWorld journal of stem cells · 2026
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23 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.

Alyssa L KennedyDana Farber/Boston Children's Cancer and Blood Disorders Center, Harvard Medical School, Boston, MA.ORCID 0000-0001-7948-5933
Akiko ShimamuraDana Farber/Boston Children's Cancer and Blood Disorders Center, Harvard Medical School, Boston, MA.ORCID 0000-0002-4683-9958
Harvard University · US

Funding

Translational Studies of Inherited Marrow Failure and Myelodysplastic SyndromesR24DK099808 · NIDDK · FRED HUTCHINSON CANCER RESEARCH CENTER · PI ABKOWITZ, JANIS L, EBERT, BENJAMIN LEVINE · 2013 to 2017
$8.2M
NIDDK NIH HHS R24 DK099808
6 · The paper itself

Abstract

Myelodysplastic syndrome (MDS) typically presents in older adults with the acquisition of age-related somatic mutations, whereas MDS presenting in children and younger adults is more frequently associated with germline genetic predisposition. Germline predisposition is increasingly recognized in MDS presenting at older ages as well. Although each individual genetic disorder is rare, as a group, the genetic MDS disorders account for a significant subset of MDS in children and young adults. Because many patients lack overt syndromic features, genetic testing plays an important role in the diagnostic evaluation. This review provides an overview of syndromes associated with genetic predisposition to MDS, discusses implications for clinical evaluation and management, and explores scientific insights gleaned from the study of MDS predisposition syndromes. The effects of germline genetic context on the selective pressures driving somatic clonal evolution are explored. Elucidation of the molecular and genetic pathways driving clonal evolution may inform surveillance and risk stratification, and may lead to the development of novel therapeutic strategies.

Indexed as

Clonal EvolutionGenetic Predisposition to DiseaseAdultAgedAnemia, Diamond-BlackfanBone Marrow DiseasesChildDyskeratosis CongenitaExocrine Pancreatic InsufficiencyFanconi AnemiaGATA2 Transcription FactorGenetic Association StudiesGerm-Line MutationHumansIntracellular Signaling Peptides and ProteinsLi-Fraumeni SyndromeGATA2 protein, humanGATA2 Transcription FactorIntracellular Signaling Peptides and ProteinsProteinsSAMD9 protein, human

Identifiers

PMID30670445
PMCPMC6405331
OpenAlexW2912150483

What Socratic 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 Socratic graph.