Evidence map›Paper›PMID 35294081›Full record

ArticleGenes, chromosomes & cancer2022

Acute megakaryoblastic leukemia with trisomy 3 and CBFA2T3::GLIS2: A case report.

Joseph Gillam, Aida Catic, Prabakaran Paulraj, Justin Dalton, Guanhua Lai, Colleen Jackson-Cook, Scott Turner, Andrea Ferreira-Gonzalez, Elizabeth Barrie

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

Article in Genes, chromosomes & cancer, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.2field-weighted citation impact, top 48% 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

3 citing papers in PubMed, 2 citations in OpenAlex.

  1. Review
  2. Review
  3. 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

9 authors at 1 institution in 1 country.

Joseph GillamDepartment of Anatomic and Clinical Pathology, Virginia Commonwealth University, Richmond, Virginia, USA.ORCID 0000-0002-3613-1542
Aida CaticDepartments of Cytogenetics and Molecular Diagnostics, Virginia Commonwealth University, Richmond, Virginia, USA.
Prabakaran PaulrajDepartments of Cytogenetics and Molecular Diagnostics, Virginia Commonwealth University, Richmond, Virginia, USA.
Justin DaltonDepartment of Hematopathology, Virginia Commonwealth University, Richmond, Virginia, USA.
Guanhua LaiDepartment of Hematopathology, Virginia Commonwealth University, Richmond, Virginia, USA.
Colleen Jackson-CookDepartments of Cytogenetics and Molecular Diagnostics, Virginia Commonwealth University, Richmond, Virginia, USA.
Scott TurnerDepartments of Cytogenetics and Molecular Diagnostics, Virginia Commonwealth University, Richmond, Virginia, USA.
Andrea Ferreira-GonzalezDepartments of Cytogenetics and Molecular Diagnostics, Virginia Commonwealth University, Richmond, Virginia, USA.
Elizabeth BarrieDepartments of Cytogenetics and Molecular Diagnostics, Virginia Commonwealth University, Richmond, Virginia, USA.ORCID 0000-0002-1146-5001
Virginia Commonwealth University · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Non-Down-syndrome-related acute megakaryoblastic leukemia (non-DS-AMKL) is a rare form of leukemia that can present with a variety of initial symptoms, including fever, rash, bruising, bleeding, or other more clinically challenging symptoms. Herein, we describe a 19-month-old female patient who presented with left lower extremity pain and language regression who was diagnosed with AMKL, not otherwise specified (NOS), on the basis of peripheral blood and bone marrow analysis, as well as cytogenetic and molecular diagnostic phenotyping. Of note, in addition to this patient's karyotype showing trisomy 3, a fusion between CBFA2T3 (core-binding factor, alpha subunit 2, translocated to, 3) on chromosome 16 and GLIS2 (GLIS family zinc finger protein 2), also on chromosome 16, was observed. Patients with AMKL who have trisomy 3 with CBFA2T3::GLIS2 fusions are rare, and it is not known if the co-occurrence of these abnormalities is coincidental or biologically related. This highlights the continued need for further expansion of genetic testing in individuals with rare disease to establish the groundwork for identifying additional commonalities that could potentially be used to identify therapeutic targets or improve prognostication.

Indexed as

Leukemia, Megakaryoblastic, AcuteChildFemaleHumansInfantKaryotypeOncogene Proteins, FusionRepressor ProteinsTrisomyCBFA2T3 protein, humanOncogene Proteins, FusionRepressor Proteinsacute megakaryoblastic leukemiaCBFA2T3::GLIS2 fusioninv(16)(p13.3q24.3)non-Down-syndrome-related acute megakaryoblastic leukemiatrisomy 3

Identifiers

PMID35294081
PMCPMC9544894
OpenAlexW4220767844

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.