Evidence map›Paper›PMID 26429975›Full record

ArticleBlood2015

MDS-associated somatic mutations and clonal hematopoiesis are common in idiopathic cytopenias of undetermined significance.

Brian Kwok, Jeff M Hall, John S Witte, Yin Xu, Prashanti Reddy, Keming Lin, Rachel Flamholz, Bashar Dabbas, Aine Yung, Jenan Al-Hafidh and 7 more

Open access · bronzeAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Blood, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 141 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
141citing papers in PubMed, 2 pooled it
25.9field-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

141 citing papers in PubMed, 2 syntheses or guidelines pooled it, 308 citations in OpenAlex.

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

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

17 authors at 2 institutions in 1 country.

Brian KwokGenoptix Medical Laboratory, Carlsbad, CA;
Jeff M HallGenoptix Medical Laboratory, Carlsbad, CA;
John S WitteDepartment of Epidemiology and Biostatistics, University of California at San Francisco, San Francisco, CA; and.
Yin XuGenoptix Medical Laboratory, Carlsbad, CA;
Prashanti ReddyGenoptix Medical Laboratory, Carlsbad, CA;
Keming LinGenoptix Medical Laboratory, Carlsbad, CA;
Rachel FlamholzGenoptix Medical Laboratory, Carlsbad, CA;
Bashar DabbasGenoptix Medical Laboratory, Carlsbad, CA;
Aine YungGenoptix Medical Laboratory, Carlsbad, CA;
Jenan Al-HafidhGenoptix Medical Laboratory, Carlsbad, CA;
Emily BalmertGenoptix Medical Laboratory, Carlsbad, CA;
Christine VaupelGenoptix Medical Laboratory, Carlsbad, CA;
Carlos El HaderGenoptix Medical Laboratory, Carlsbad, CA;
Matthew J McGinnissGenoptix Medical Laboratory, Carlsbad, CA;
Shareef A NahasGenoptix Medical Laboratory, Carlsbad, CA;
Julie KinesGenoptix Medical Laboratory, Carlsbad, CA;
Rafael BejarDivision of Hematology-Oncology, Moores Cancer Center at the University of California at San Diego, La Jolla, CA.
University of California, San Diego · USUniversity of California, San Francisco · US

Funding

Characterization of Genetic Abnormalities in MDS and Their Clinical ImpactK08DK091360 · NIDDK · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI BEJAR, RAFAEL · 2012 to 2016
$789k
NIDDK NIH HHS K08 DK091360NIDDK NIH HHS K08DK091360
6 · The paper itself

Abstract

Establishing a diagnosis in patients suspected of having a myelodysplastic syndrome (MDS) can be challenging and could be informed by the identification of somatic mutations. We performed a prospective study to examine the frequency and types of mutations encountered in 144 patients with unexplained cytopenias. Based on bone marrow findings, 17% were diagnosed with MDS, 15% with idiopathic cytopenias of undetermined significance (ICUS) and some evidence of dysplasia, and 69% with ICUS and no dysplasia. Bone marrow DNA was sequenced for mutations in 22 frequently mutated myeloid malignancy genes. Somatic mutations were identified in 71% of MDS patients, 62% of patients with ICUS and some dysplasia, and 20% of ICUS patients and no dysplasia. In total, 35% of ICUS patients carried a somatic mutation or chromosomal abnormality indicative of clonal hematopoiesis. We validated these results in a cohort of 91 lower-risk MDS and 249 ICUS cases identified over a 6-month interval. Mutations were found in 79% of those with MDS, in 45% of those with ICUS with dysplasia, and in 17% of those with ICUS without dysplasia. The spectrum of mutated genes was similar with the exception of SF3B1 which was rarely mutated in patients without dysplasia. Variant allele fractions were comparable between clonal ICUS (CCUS) and MDS as were mean age and blood counts. We demonstrate that CCUS is a more frequent diagnosis than MDS in cytopenic patients. Clinical and mutational features are similar in these groups and may have diagnostic utility once outcomes in CCUS patients are better understood.

Indexed as

AllelesChromosome AberrationsGene FrequencyMutationMyelodysplastic SyndromesAge FactorsFemaleHematopoiesisHumansMaleProspective StudiesRetrospective Studies

Identifiers

PMID26429975
PMCPMC4653764
OpenAlexW2406284768

What OpenQuestion holds

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Read underepoch 390

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.