Evidence map›Paper›PMID 34042280›Full record

ArticleCancer medicine2021

Mutational profile of ZBTB16-RARA-positive acute myeloid leukemia.

Emiliano Fabiani, Laura Cicconi, Anna Maria Nardozza, Antonio Cristiano, Marianna Rossi, Tiziana Ottone, Giulia Falconi, Mariadomenica Divona, Anna Maria Testi, Ombretta Annibali and 10 more

Open access · goldAbstract read
In one paragraph

Article in Cancer medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.

0numbers the graph read from it
0cells of the map it votes in
12citing papers in PubMed
1.3field-weighted citation impact, top 20% 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

12 citing papers in PubMed, 19 citations in OpenAlex.

  1. Article
  2. Review
  3. Article
  4. Article
  5. Function of PML-RARA in Acute Promyelocytic Leukemia.Advances in experimental medicine and biology · 2024
    Review
  6. Article
  7. Article
  8. Correlation analysis between auto-immunological and mutational profiles in myelodysplastic syndromes.Inflammation research : official journal of the European Histamine Research Society ... [et al.] · 2023
    Article
  9. Review
  10. Article
  11. Review
  12. 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

20 authors at 10 institutions in 4 countries.

Emiliano FabianiDepartment of Biomedicine and Prevention, University Tor Vergata Rome, Rome, Italy.ORCID 0000-0002-6209-8934
Laura CicconiUnit of Hematology, Santo Spirito Hospital, Rome, Italy.
Anna Maria NardozzaDepartment of Biomedicine and Prevention, University Tor Vergata Rome, Rome, Italy.
Antonio CristianoDepartment of Biomedicine and Prevention, University Tor Vergata Rome, Rome, Italy.
Marianna RossiCancer Center - IRCCS Humanitas Clinical & Research Hospital and Humanitas University, Milan, Italy.
Tiziana OttoneDepartment of Biomedicine and Prevention, University Tor Vergata Rome, Rome, Italy.
Giulia FalconiDepartment of Biomedicine and Prevention, University Tor Vergata Rome, Rome, Italy.
Mariadomenica DivonaDepartment of Biomedicine and Prevention, University Tor Vergata Rome, Rome, Italy.
Anna Maria TestiDepartment of Translational and Precision Medicine and Hematology, Sapienza University, Rome, Italy.
Ombretta AnnibaliHematology and Stem Cell Transplantation Unit, University Campus Biomedico, Rome, Italy.ORCID 0000-0002-3095-5313
Roberto CastelliDepartment of Biomedical and Clinical Sciences, Luigi Sacco Hospital, Milan, Italy.
Vladimir LazarevicDepartment of Hematology, Oncology and Radiation Physics, Skåne University Hospital, Lund, Sweden.ORCID 0000-0002-1782-4423
Eduardo RegoDepartment of Internal Medicine, Medical School of Ribeirao Preto, Sau Paulo, Brazil.
Pau MontesinosHematology Department, Hospital Universitari i Politècnico la Fe, Valencia, Spain.
Jordi EsteveDepartment of Hematology, Hospital Clínic de Barcelona, Barcelona, Spain.
Adriano VendittiDepartment of Biomedicine and Prevention, University Tor Vergata Rome, Rome, Italy.
Matteo Della PortaCancer Center - IRCCS Humanitas Clinical & Research Hospital and Humanitas University, Milan, Italy.
William ArceseDepartment of Biomedicine and Prevention, University Tor Vergata Rome, Rome, Italy.
Francesco Lo-CocoDepartment of Biomedicine and Prevention, University Tor Vergata Rome, Rome, Italy.
Maria Teresa VosoDepartment of Biomedicine and Prevention, University Tor Vergata Rome, Rome, Italy.
University of Rome Tor Vergata · ITHumanitas University · ITClinics Hospital of Ribeirão Preto · BRHospital Clínic de Barcelona · ESHospital Universitari i Politècnic La Fe · ESLuigi Sacco Hospital · ITOspedale di Santo Spirito · ITSapienza University of Rome · ITSkåne University Hospital · SEUniversità Campus Bio-Medico · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundThe ZBTB16-RARA fusion gene, resulting from the reciprocal translocation between ZBTB16 on chromosome 11 and RARA genes on chromosome 17 [t(11;17)(q23;q21)], is rarely observed in acute myeloid leukemia (AML), and accounts for about 1% of retinoic acid receptor-α (RARA) rearrangements. AML with this rare translocation shows unusual bone marrow (BM) morphology, with intermediate aspects between acute promyelocytic leukemia (APL) and AML with maturation. Patients may have a high incidence of disseminated intravascular coagulation at diagnosis, are poorly responsive to all-trans retinoic acid (ATRA) and arsenic tryoxyde, and are reported to have an overall poor prognosis.

aimsThe mutational profile of ZBTB16-RARA rearranged AML has not been described so far. MATERIALS AND

methodsWe performed targeted next-generation sequencing of 24 myeloid genes in BM diagnostic samples from seven ZBTB16-RARA+AML, 103 non-RARA rearranged AML, and 46 APL. The seven ZBTB16-RARA-positive patients were then screened for additional mutations using whole exome sequencing (n = 3) or an extended cancer panel including 409 genes (n = 4).

resultsZBTB16-RARA+AML showed an intermediate number of mutations per patient and involvement of different genes, as compared to APL and other AMLs. In particular, we found a high incidence of ARID1A mutations in ZBTB16-RARA+AML (five of seven cases, 71%). Mutations in ARID2 and SMARCA4, other tumor suppressor genes also belonging to SWI/SNF chromatin remodeling complexes, were also identified in one case (14%). DISCUSSION AND

conclusionOur data suggest the association of mutations of the ARID1A gene and of the other members of the SWI/SNF chromatin remodeling complexes with ZBTB16-RARA+AMLs, where they may support the peculiar disease phenotype.

Indexed as

Translocation, GeneticAdultAgedAged, 80 and overAntineoplastic AgentsArsenic TrioxideBone MarrowChildChromosomes, Human, Pair 11Chromosomes, Human, Pair 17Disseminated Intravascular CoagulationDNA-Binding ProteinsDNA HelicasesFemaleHigh-Throughput Nucleotide SequencingHumansAntineoplastic AgentsARID1A protein, humanARID2 protein, humanArsenic TrioxideDNA-Binding ProteinsDNA HelicasesNuclear ProteinsOncogene Proteins, FusionPromyelocytic Leukemia Zinc Finger ProteinRARA protein, humanRetinoic Acid Receptor alphaSMARCA4 protein, humanTranscription FactorsTretinoinZBTB16 protein, humanAMLARID1ANGSZBTB16-RARA

Identifiers

PMID34042280
PMCPMC8209618
OpenAlexW3164327598

What OpenQuestion holds

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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.