Evidence map›Paper›PMID 30338611›Full record

ArticleGenes, chromosomes & cancer2018

Novel MXD4-NUTM1 fusion transcript identified in primary ovarian undifferentiated small round cell sarcoma.

Ryo Tamura, Hirofumi Nakaoka, Kosuke Yoshihara, Yutaro Mori, Nozomi Yachida, Nobumichi Nishikawa, Teiichi Motoyama, Shujiro Okuda, Ituro Inoue, Takayuki Enomoto

Open access · hybridAbstract readCase Reports
In one paragraph

Article in Genes, chromosomes & cancer, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
26citing papers in PubMed, 1 pooled it
1.7field-weighted citation impact, top 15% 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

26 citing papers in PubMed, 1 synthesis or guideline pooled it, 44 citations in OpenAlex.

  1. Pooled it
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  14. Detection of sarcoma fusions by a next-generation sequencing based-ligation-dependent multiplex RT-PCR assay.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2022
    Article
  15. Review
  16. Article
  17. Skin adnexal carcinoma with BRD3-NUTM2B fusion.Journal of cutaneous pathology · 2021
    Article
  18. Current oncology (Toronto, Ont.) · 2021
    Review
  19. NUTM1-rearranged colorectal sarcoma: a clinicopathologically and genetically distinctive malignant neoplasm with a poor prognosis.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2021
    Article
  20. Review
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

10 authors at 2 institutions in 1 country.

Ryo TamuraDepartment of Obstetrics and Gynecology, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.ORCID 0000-0002-9673-7941
Hirofumi NakaokaDivision of Human Genetics, National Institute of Genetics, Mishima, Japan.
Kosuke YoshiharaDepartment of Obstetrics and Gynecology, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.ORCID 0000-0002-2254-3378
Yutaro MoriDepartment of Obstetrics and Gynecology, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.
Nozomi YachidaDepartment of Obstetrics and Gynecology, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.
Nobumichi NishikawaDepartment of Obstetrics and Gynecology, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.
Teiichi MotoyamaDepartment of Molecular and Diagnostic Pathology, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.
Shujiro OkudaDepartment of Bioinformatics, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.
Ituro InoueDivision of Human Genetics, National Institute of Genetics, Mishima, Japan.
Takayuki EnomotoDepartment of Obstetrics and Gynecology, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.
Niigata University · JPNational Institute of Genetics · JP

Funding

JSPS KAKENHI JP16H06267JSPS KAKENHI JP16H06279
6 · The paper itself

Abstract

Primary ovarian sarcomas are extremely rare tumors, and their genomic and transcriptomic alterations remain to be elucidated. We performed whole exome sequencing of primary tumor and matched normal blood samples derived from one patient with ovarian undifferentiated small round cell sarcoma. We identified 8 nonsynonymous somatic mutations, and all mutations were missense or nonsense changes. Next, we performed RNA sequencing of the tumor sample and identified two in-frame fusion transcripts: MXD4-NUTM1 and ARL6-POT1. Most NUTM1 exons were retained in the MXD4-NUTM1 fusion transcript, and we confirmed an increase in NUTM1 mRNA and protein expression in tumor tissue. Further genomic and transcriptomic analyses might lead to the development of new therapeutic strategies based on the molecular characteristics of ovarian undifferentiated small round cell sarcoma.

Indexed as

AdultBasic Helix-Loop-Helix ProteinsFemaleHumansOncogene Proteins, FusionOvarian NeoplasmsRepressor ProteinsSarcomaBasic Helix-Loop-Helix ProteinsMXD4 protein, humanOncogene Proteins, FusionRepressor Proteinsfusion transcriptMXD4-NUTM1NUT rearrangementovarian sarcomasmall round cell sarcoma

Identifiers

PMID30338611
PMCPMC6221051
OpenAlexW2896381907

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.