Evidence map›Paper›PMID 32474730›Full record

ArticleVirchows Archiv : an international journal of pathology2020

Soft tissue tumor with novel NR1D1-MAML1 fusion in a pediatric case.

Masato Komatsu, Nobuyuki Yamamoto, Teruya Kawamoto, Yohei Kawakami, Hitomi Hara, Suguru Uemura, Noriyuki Nishimura, Toshihiro Akisue, Ryosuke Kuroda, Kazumoto Iijima and 5 more

Abstract readCase Reports
PubMed Publisher
In one paragraph

Article in Virchows Archiv : an international journal of pathology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.6field-weighted citation impact, top 27% 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

2 citing papers in PubMed, 11 citations in OpenAlex.

  1. Article
  2. Fibroma of tendon sheath is defined by a USP6 gene fusion-morphologic and molecular reappraisal of the entity.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2021
    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

15 authors at 4 institutions in 1 country.

Masato KomatsuDepartment of Diagnostic Pathology, Kobe University Graduate School of Medicine, -5-1 Kusunoki-cho, Chuo-ku, Kobe, Hyogo Prefecture, 650-0017, Japan. mkomatsu@med.kobe-u.ac.jp.ORCID https://orcid.org/0000-0003-2007-0252
Nobuyuki YamamotoDepartment of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe, Hyogo Prefecture, 650-0017, Japan.
Teruya KawamotoDepartment of Orthopedic Surgery, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe, Hyogo Prefecture, 650-0017, Japan.
Yohei KawakamiDepartment of Orthopedic Surgery, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe, Hyogo Prefecture, 650-0017, Japan.
Hitomi HaraDepartment of Orthopedic Surgery, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe, Hyogo Prefecture, 650-0017, Japan.
Suguru UemuraDepartment of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe, Hyogo Prefecture, 650-0017, Japan.
Noriyuki NishimuraDepartment of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe, Hyogo Prefecture, 650-0017, Japan.
Toshihiro AkisueDepartment of Rehabilitation Science, Kobe University Graduate School of Health Sciences, 7-10-2 Tomogaoka, Suma-ku, Kobe, Hyogo Prefecture, 654-0142, Japan.
Ryosuke KurodaDepartment of Orthopedic Surgery, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe, Hyogo Prefecture, 650-0017, Japan.
Kazumoto IijimaDepartment of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe, Hyogo Prefecture, 650-0017, Japan.
Naoe JimboDepartment of Diagnostic Pathology, Kobe University Graduate School of Medicine, -5-1 Kusunoki-cho, Chuo-ku, Kobe, Hyogo Prefecture, 650-0017, Japan.
Maki KanzawaDepartment of Diagnostic Pathology, Kobe University Graduate School of Medicine, -5-1 Kusunoki-cho, Chuo-ku, Kobe, Hyogo Prefecture, 650-0017, Japan.
Kazuyoshi KajimotoDepartment of Diagnostic Pathology, Hyogo Cancer Center, 13-70 Kitaooji-cho, Akashi, Hyogo Prefecture, 673-0021, Japan.
Tomoo ItohDepartment of Diagnostic Pathology, Kobe University Graduate School of Medicine, -5-1 Kusunoki-cho, Chuo-ku, Kobe, Hyogo Prefecture, 650-0017, Japan.
Takanori HiroseDepartment of Diagnostic Pathology, Hyogo Cancer Center, 13-70 Kitaooji-cho, Akashi, Hyogo Prefecture, 673-0021, Japan.
Kobe University · JPHyogo Prefectural Cancer Center · JPKobe International University · JPKobe University Hospital · JP

Funding

JSPS Grant-in-Aid for Scientific Research 18K16660
6 · The paper itself

Abstract

We herein describe soft tissue tumor arising in the lower extremity of a pediatric patient. The tumor displayed a unique and wide range of histological features, sheet-like and cohesive growth pattern consisting of enlarged round to epithelioid atypical cells with a large alveolar and pseudopapillary histological architecture, focally mimicking alveolar soft part sarcoma and MiT family translocation renal cell carcinoma. Tumor cells were focally immunoreactive for cytokeratin, S-100, and EMA. RNA sequencing identified a novel in-frame NR1D1 (exon 5)-MAML1 (exon 2) gene rearrangement resulting in the formation of a putative chimeric protein containing the N-terminal C4-type zing finger domains of NR1D1 and the C-terminal MAML1 protein, which was confirmed by subsequent RT-PCR, Sanger sequencing, and FISH assay. To the best of our knowledge, NR1D1-MAML1 fusion has not yet been described in any neoplasms, suggesting the emergence of a novel tumor entity.

Indexed as

CarcinomaChildDNA-Binding ProteinsHumansLegMaleMyoepitheliomaNuclear Receptor Subfamily 1, Group D, Member 1Oncogene FusionSoft Tissue NeoplasmsTranscription FactorsDNA-Binding ProteinsMAML1 protein, humanNR1D1 protein, humanNuclear Receptor Subfamily 1, Group D, Member 1Transcription FactorsFusion geneMAML1NR1D1

Identifiers

PMID32474730
OpenAlexW3031712437

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.