Evidence map›Paper›PMID 26857357›Full record

ArticleDiagnostic pathology2016

Fusion of the HMGA2 and C9orf92 genes in myolipoma with t(9;12)(p22;q14).

Ioannis Panagopoulos, Ludmila Gorunova, Antonio Agostini, Ingvild Lobmaier, Bodil Bjerkehagen, Sverre Heim

Open access · goldAbstract readCase Reports
In one paragraph

Article in Diagnostic pathology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.

0numbers the graph read from it
0cells of the map it votes in
10citing papers in PubMed
1.0field-weighted citation impact, top 22% 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

10 citing papers in PubMed, 24 citations in OpenAlex.

  1. Article
  2. Review
  3. Article
  4. Thymolipoma - the frontier between hamartoma and neoplasia?Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologie
    Article
  5. Article
  6. Fusion of theIn vivo (Athens, Greece)
    Article
  7. Review
  8. Article
  9. Article
  10. Cancer genomics & proteomics
    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

6 authors at 2 institutions in 1 country.

Ioannis PanagopoulosSection for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, The Norwegian Radium Hospital, Oslo University Hospital, P.O. Box 4953, Nydalen, NO-0424, Oslo, Norway. ioannis.panagopoulos@rr-research.no.
Ludmila GorunovaSection for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, The Norwegian Radium Hospital, Oslo University Hospital, P.O. Box 4953, Nydalen, NO-0424, Oslo, Norway. ludmila.gorunova@rr-research.no.
Antonio AgostiniSection for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, The Norwegian Radium Hospital, Oslo University Hospital, P.O. Box 4953, Nydalen, NO-0424, Oslo, Norway. Antonio.Agostini@rr-research.no.
Ingvild LobmaierDepartment of Pathology, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway. sbkori@ous-hf.no.
Bodil BjerkehagenDepartment of Pathology, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway. BOB@ous-hf.no.
Sverre HeimSection for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, The Norwegian Radium Hospital, Oslo University Hospital, P.O. Box 4953, Nydalen, NO-0424, Oslo, Norway. sverre.heim@medisin.uio.no.
Oslo University Hospital · NOUniversity of Oslo · NO

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundMyolipoma of soft tissue is an extremely rare benign tumor composed of mature adipose tissue and smooth muscle cells. It is found predominantly in women. The cytogenetic and molecular genetic features of myolipomas remain largely unexplored. Here we present the first cytogenetically analyzed myolipoma.

methodsCytogenetic and molecular genetic analyses were done on a myolipoma.

resultsG-banding analysis of short-term cultured cells from the myolipoma yielded a karyotype with a single clonal chromosome abnormality: 46,XX,t(9;12)(p22;q14). Fluorescence in situ hybridization experiments demonstrated that HMGA2 (in 12q14) was rearranged. Molecular genetic analysis showed that the translocation resulted in fusion of HMGA2 with the C9orf92 gene (from 9p22). The HMGA2-C9orf92 fusion transcript would code for a putative protein containing amino acid residues 1-94 of HMGA2 and 6 amino acid residues from the out-of-frame fusion with exon 4 of C9orf92.

conclusionThe pattern of HMGA2 rearrangement in the present case of myolipoma is similar to what is found in other benign connective tissue tumor types, including lipomas, i.e., disruption of the HMGA2 locus leaves intact exons which encode the AT-hook domains but separates them from the 3´-terminal part of the gene. Whether any genetic features differentiate myolipomas from regular lipomas with HMGA2-involvement is a question that cannot be answered until more cases of the former tumor type are subjected to genetic analysis.

Indexed as

Chromosomes, Human, Pair 12Chromosomes, Human, Pair 9Gene FusionTranslocation, GeneticAgedBiomarkers, TumorBiopsyChromosome BandingFemaleHMGA2 ProteinHumansImmunohistochemistryIn Situ Hybridization, FluorescenceIntracellular Signaling Peptides and ProteinsKaryotypingLipomaBiomarkers, TumorHMGA2 ProteinIntracellular Signaling Peptides and ProteinsLINC03041 protein, humanProteins

Identifiers

PMID26857357
PMCPMC4746792
OpenAlexW2265223552

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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.