Evidence map›Paper›PMID 24116929›Full record

ArticleBritish journal of haematology2014

Single nucleotide polymorphism array analysis of bone marrow failure patients reveals characteristic patterns of genetic changes.

Daria V Babushok, Hongbo M Xie, Jacquelyn J Roth, Nieves Perdigones, Timothy S Olson, Joshua D Cockroft, Xiaowu Gai, Juan C Perin, Yimei Li, Michele E Paessler and 5 more

Open access · greenAbstract read
In one paragraph

Article in British journal of haematology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.

0numbers the graph read from it
0cells of the map it votes in
14citing papers in PubMed
1.0field-weighted citation impact, top 25% 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

14 citing papers in PubMed, 22 citations in OpenAlex.

  1. Article
  2. Review
  3. Article
  4. The clinical and laboratory evaluation of patients with suspected hypocellular marrow failure.Hematology. American Society of Hematology. Education Program · 2021
    Review
  5. Article
  6. Review
  7. Review
  8. A brief, but comprehensive, guide to clonal evolution in aplastic anemia.Hematology. American Society of Hematology. Education Program · 2018
    Review
  9. Article
  10. Review
  11. Article
  12. Article
  13. Acquired aplastic anemia in children.Pediatric clinics of North America · 2013
    Review
  14. Article
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

15 authors at 3 institutions in 1 country.

Daria V BabushokDivision of Hematology, Department of Medicine, Hospital of the University of Pennsylvania, Philadelphia, PA, USA; Comprehensive Bone Marrow Failure Center, Division of Hematology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Hongbo M Xie
Jacquelyn J Roth
Nieves Perdigones
Timothy S Olson
Joshua D Cockroft
Xiaowu Gai
Juan C Perin
Yimei Li
Michele E Paessler
Hakon Hakonarson
Gregory M Podsakoff
Philip J Mason
Jaclyn A Biegel
Monica Bessler
Children's Hospital of Philadelphia · USHospital of the University of Pennsylvania · USLoyola University Chicago · US

Funding

UNIVERSITY OF PENNSYLVANIA CAN CTR SUPPORT GRANTP30CA016520 · NCI · UNIVERSITY OF PENNSYLVANIA · PI SHELLEY L BERGER · 1985 to 2026
$222.3M
HEMATOLOGY CLINICAL RESEARCH TRAINING PROGRAMT32HL007439 · NHLBI · UNIVERSITY OF PENNSYLVANIA · PI LAWRENCE F BRASS, PETER S KLEIN · 1985 to 2026
$17.1M
MEDICAL GENETICS RESEARCH TRAINING GRANTT32GM008638 · NIGMS · UNIVERSITY OF PENNSYLVANIA · PI Rebecca Ganetzky · 1997 to 2026
$8.7M
MOLECULAR STUDIES OF BONE MARROW FAILURER01CA105312 · NCI · WASHINGTON UNIVERSITY · PI BESSLER, MONICA · 2004 to 2014
$4.9M
Mentored career development in clinical research in non-malignant hematologyK12HL087064 · NHLBI · UNIVERSITY OF PENNSYLVANIA · PI ABRAMS, CHARLES S. · 2006 to 2016
$3.9M
NCI NIH HHS P30 CA016520NCI NIH HHS R01 CA105312NHLBI NIH HHS 5-T32-HL-07439-34NHLBI NIH HHS K12 HL087064NHLBI NIH HHS T32 HL007439NIGMS NIH HHS T32 GM008638NIGMS NIH HHS T32-GM008638
6 · The paper itself

Abstract

The bone marrow failure syndromes (BMFS) are a heterogeneous group of rare blood disorders characterized by inadequate haematopoiesis, clonal evolution, and increased risk of leukaemia. Single nucleotide polymorphism arrays (SNP-A) have been proposed as a tool for surveillance of clonal evolution in BMFS. To better understand the natural history of BMFS and to assess the clinical utility of SNP-A in these disorders, we analysed 124 SNP-A from a comprehensively characterized cohort of 91 patients at our BMFS centre. SNP-A were correlated with medical histories, haematopathology, cytogenetic and molecular data. To assess clonal evolution, longitudinal analysis of SNP-A was performed in 25 patients. We found that acquired copy number-neutral loss of heterozygosity (CN-LOH) was significantly more frequent in acquired aplastic anaemia (aAA) than in other BMFS (odds ratio 12·2, P < 0·01). Homozygosity by descent was most common in congenital BMFS, frequently unmasking autosomal recessive mutations. Copy number variants (CNVs) were frequently polymorphic, and we identified CNVs enriched in neutropenia and aAA. Our results suggest that acquired CN-LOH is a general phenomenon in aAA that is probably mechanistically and prognostically distinct from typical CN-LOH of myeloid malignancies. Our analysis of clinical utility of SNP-A shows the highest yield of detecting new clonal haematopoiesis at diagnosis and at relapse.

Indexed as

Chromosome AberrationsAdolescentAdultAnemia, AplasticBase SequenceBone MarrowBone Marrow DiseasesBone Marrow Failure DisordersChildChild, PreschoolCohort StudiesDNA Copy Number VariationsFemaleHemoglobinuria, ParoxysmalHumansInfantaplastic anaemiabone marrow failurechromosomal rearrangementsclonal evolutioncytogenetic diagnosis

Identifiers

PMID24116929
PMCPMC3986350
OpenAlexW1966149362

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.