Evidence map›Paper›PMID 30083851›Full record

ArticleInternational journal of hematology2018

C-terminal RUNX1 mutation in familial platelet disorder with predisposition to myeloid malignancies.

Kateřina Staňo Kozubík, Lenka Radová, Michaela Pešová, Kamila Réblová, Jakub Trizuljak, Karla Plevová, Veronika Fiamoli, Jaromír Gumulec, Helena Urbánková, Tomáš Szotkowski and 3 more

Abstract readCase Reports
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In one paragraph

Article in International journal of hematology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
1.0field-weighted citation impact, top 23% 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

5 citing papers in PubMed, 9 citations in OpenAlex.

  1. Review
  2. Beyond PathogenicCancers · 2022
    Review
  3. Review
  4. Frontiers in oncology · 2021
    Review
  5. 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

13 authors at 4 institutions in 1 country.

Kateřina Staňo KozubíkCentral European Institute of Technology (CEITEC), University Hospital, Masaryk University, Brno, Czech Republic.
Lenka RadováCentral European Institute of Technology (CEITEC), University Hospital, Masaryk University, Brno, Czech Republic.
Michaela PešováCentral European Institute of Technology (CEITEC), University Hospital, Masaryk University, Brno, Czech Republic.
Kamila RéblováCentral European Institute of Technology (CEITEC), University Hospital, Masaryk University, Brno, Czech Republic.
Jakub TrizuljakCentral European Institute of Technology (CEITEC), University Hospital, Masaryk University, Brno, Czech Republic.
Karla PlevováCentral European Institute of Technology (CEITEC), University Hospital, Masaryk University, Brno, Czech Republic.
Veronika FiamoliDepartment of Pediatric Hematology, University Hospital, Brno, Czech Republic.
Jaromír GumulecDepartment of Hematologic Oncology, University Hospital, Ostrava, Czech Republic.
Helena UrbánkováDepartment of Hematologic Oncology, University Hospital, Palacký University, Olomouc, Czech Republic.
Tomáš SzotkowskiDepartment of Hematologic Oncology, University Hospital, Palacký University, Olomouc, Czech Republic.
Jiří MayerCentral European Institute of Technology (CEITEC), University Hospital, Masaryk University, Brno, Czech Republic.
Šárka PospíšilováCentral European Institute of Technology (CEITEC), University Hospital, Masaryk University, Brno, Czech Republic.
Michael DoubekCentral European Institute of Technology (CEITEC), University Hospital, Masaryk University, Brno, Czech Republic. doubek.michael@fnbrno.cz.ORCID http://orcid.org/0000-0002-1269-6282
Central European Institute of Technology · CZPalacký University Olomouc · CZUniversity Hospital Brno · CZUniversity Hospital Ostrava · CZ

Funding

Ministerstvo Zdravotnictví Ceské Republiky AZV 16-29447A
6 · The paper itself

Abstract

Here we report a C-terminal RUNX1 mutation in a family with platelet disorder and predisposition to myeloid malignancies. We identified the mutation c.866delG:p.Gly289Aspfs*22 (NM_001754) (RUNX1 b-isoform NM_001001890; c.785delG:p.Gly262Aspfs*22) using exome sequencing of samples obtained from eight members of a single family. The mutation found in our pedigree is within exon eight and the transactivation domain of RUNX1. One of the affected individuals developed myelodysplastic syndrome (MDS), which progressed to acute myelogenous leukemia (AML). A search for the second hit which led to the development of MDS and later AML in this individual revealed the PHF6 gene variant (exon9:c.872G > A:p.G291E; NM_001015877), BCORL1 (exon3:c.1111A > C:p.T371P; NM_001184772) and BCOR gene variant (exon4:c.2076dupT:p.P693fs; NM_001123383), which appear to be very likely second hits participating in the progression to myeloid malignancy.

Indexed as

Genetic Predisposition to DiseaseMutationBiopsyBlood Platelet DisordersChild, PreschoolChromosome AberrationsCore Binding Factor Alpha 2 SubunitDisease ProgressionDNA Mutational AnalysisFamilyFemaleHumansKaryotypeLeukemia, MyeloidPlatelet CountPolymorphism, Single NucleotideCore Binding Factor Alpha 2 SubunitRUNX1 protein, humanFamilial platelet disorder with predisposition to myeloid malignanciesInherited thrombocytopeniaRUNX1

Identifiers

PMID30083851
OpenAlexW2887385688

What OpenQuestion 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 OpenQuestion graph.