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ArticleExperimental hematology & oncology2015

Rare MLL-ELL fusion transcripts in childhood acute myeloid leukemia-association with young age and myeloid sarcomas?

Ioannis Panagopoulos, Ludmila Gorunova, Gitte Kerndrup, Signe Spetalen, Anne Tierens, Liv T N Osnes, Kristin Andersen, Lil-Sofie Ording Müller, Marit Hellebostad, Bernward Zeller and 1 more

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In one paragraph

Article in Experimental hematology & oncology, 2015. 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
0.2field-weighted citation impact, top 40% 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, 5 citations in OpenAlex.

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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

11 authors at 5 institutions in 3 countries.

Ioannis PanagopoulosSection for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, The Norwegian Radium Hospital, Oslo University Hospital, Nydalen, P.O.Box 4953, 0424 Oslo, Norway ; Centre for Cancer Biomedicine, Faculty of Medicine, University of Oslo, Oslo, Norway.
Ludmila GorunovaSection for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, The Norwegian Radium Hospital, Oslo University Hospital, Nydalen, P.O.Box 4953, 0424 Oslo, Norway ; Centre for Cancer Biomedicine, Faculty of Medicine, University of Oslo, Oslo, Norway.
Gitte KerndrupDepartment of Pathology, Aarhus University Hospital, Aarhus, Denmark.
Signe SpetalenDepartment of Pathology, Oslo University Hospital, Oslo, Norway.
Anne TierensLaboratory Medicine Program, Department of Haematopathology, University Health Network, Toronto, Canada.
Liv T N OsnesDepartment of Immunology, Oslo University Hospital, Oslo, Norway.
Kristin AndersenSection for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, The Norwegian Radium Hospital, Oslo University Hospital, Nydalen, P.O.Box 4953, 0424 Oslo, Norway ; Centre for Cancer Biomedicine, Faculty of Medicine, University of Oslo, Oslo, Norway.
Lil-Sofie Ording MüllerDepartment of Radiology, Oslo University Hospital, Oslo, Norway.
Marit HellebostadDepartment of Pediatrics, Drammen Hospital, Vestre Viken HF, Drammen, Norway.
Bernward ZellerDepartment of Pediatrics, Oslo University Hospital, Oslo, Norway.
Sverre HeimSection for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, The Norwegian Radium Hospital, Oslo University Hospital, Nydalen, P.O.Box 4953, 0424 Oslo, Norway ; Centre for Cancer Biomedicine, Faculty of Medicine, University of Oslo, Oslo, Norway ; Faculty of Medicine, University of Oslo, Oslo, Norway.
Oslo University Hospital · NOUniversity of Oslo · NOAarhus University Hospital · DKUniversity Health Network · CAVestre Viken Hospital Trust · NO

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundThe chromosomal translocation t(11;19)(q23;p13) with a breakpoint within subband 19p13.1 is found mainly in acute myeloid leukemia (AML) and results in the MLL-ELL fusion gene. Variations in the structure of MLL-ELL seem to influence the leukemogenic potency of the fusion in vivo and may lie behind differences in clinical features. The number of cases reported so far is very limited and the addition of more information about MLL-ELL variants is essential if the possible clinical significance of rare fusions is to be determined. CASE PRESENTATION: Cytogenetic and molecular genetic analyses were done on the bone marrow cells of a 20-month-old boy with an unusual form of myelomonocytic AML with multiple myeloid sarcomas infiltrating bone and soft tissues. The G-banding analysis together with FISH yielded the karyotype 47,XY, +6,t(8;19;11)(q24;p13;q23). FISH analysis also demonstrated that MLL was split. RNA-sequencing showed that the translocation had generated an MLL-ELL chimera in which exon 9 of MLL (nt 4241 in sequence with accession number NM_005933.3) was fused to exon 6 of ELL (nt 817 in sequence with accession number NM_006532.3). RT-PCR together with Sanger sequencing verified the presence of the above-mentioned fusion transcript.

conclusionsBased on our findings and information on a few previously reported patients, we speculate that young age, myelomonoblastic AML, and the presence of extramedullary disease may be typical of children with rare MLL-ELL fusion transcripts.

Indexed as

Acute myeloid leukemiaChromosomal translocationELLFusion geneMLLMyeloid sarcomaRNA-sequencingt(11;19)(q23;p13)

Identifiers

PMID26949571
PMCPMC4779576
OpenAlexW2300107978

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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.