Evidence map›Paper›PMID 29321523›Full record

ArticleNature communications2018

Integrative genomic and transcriptomic analysis of leiomyosarcoma.

Priya Chudasama, Sadaf S Mughal, Mathijs A Sanders, Daniel Hübschmann, Inn Chung, Katharina I Deeg, Siao-Han Wong, Sophie Rabe, Mario Hlevnjak, Marc Zapatka and 31 more

Open access · goldAbstract read
In one paragraph

Article in Nature communications, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 170 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
170citing papers in PubMed, 2 pooled it
9.4field-weighted citation impact, top 1% 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

170 citing papers in PubMed, 2 syntheses or guidelines pooled it, 296 citations in OpenAlex.

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  14. Exploring Dystrophin Expression and Mutations in theInternational journal of molecular sciences · 2026
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110 more citing papers are in PubMed but not listed here.

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

41 authors at 7 institutions in 4 countries.

Priya ChudasamaDivision of Translational Oncology, National Center for Tumor Diseases (NCT) Heidelberg and German Cancer Research Center (DKFZ), 69120, Heidelberg, Germany.
Sadaf S MughalDivision of Applied Bioinformatics, DKFZ and NCT Heidelberg, 69120, Heidelberg, Germany.
Mathijs A SandersDepartment of Hematology, Erasmus Medical Center, 3015 CN, Rotterdam, The Netherlands.
Daniel HübschmannDivision of Theoretical Bioinformatics, DKFZ, 69120, Heidelberg, Germany.
Inn ChungResearch Group Genome Organization and Function, DKFZ and BioQuant Center, 69120, Heidelberg, Germany.
Katharina I DeegResearch Group Genome Organization and Function, DKFZ and BioQuant Center, 69120, Heidelberg, Germany.
Siao-Han WongDivision of Applied Bioinformatics, DKFZ and NCT Heidelberg, 69120, Heidelberg, Germany.
Sophie RabeDivision of Translational Oncology, National Center for Tumor Diseases (NCT) Heidelberg and German Cancer Research Center (DKFZ), 69120, Heidelberg, Germany.
Mario HlevnjakDivision of Molecular Genetics, DKFZ, 69120, Heidelberg, Germany.
Marc ZapatkaDivision of Molecular Genetics, DKFZ, 69120, Heidelberg, Germany.ORCID http://orcid.org/0000-0001-8287-5967
Aurélie ErnstDivision of Molecular Genetics, DKFZ, 69120, Heidelberg, Germany.
Kortine KleinheinzDivision of Theoretical Bioinformatics, DKFZ, 69120, Heidelberg, Germany.ORCID http://orcid.org/0000-0002-1859-2281
Matthias SchlesnerDivision of Theoretical Bioinformatics, DKFZ, 69120, Heidelberg, Germany.ORCID http://orcid.org/0000-0002-5896-4086
Lina SieverlingDivision of Applied Bioinformatics, DKFZ and NCT Heidelberg, 69120, Heidelberg, Germany.
Barbara KlinkInstitute for Clinical Genetics, Faculty of Medicine Carl Gustav Carus, Technical University Dresden, 01307, Dresden, Germany.ORCID http://orcid.org/0000-0002-8753-8238
Evelin SchröckInstitute for Clinical Genetics, Faculty of Medicine Carl Gustav Carus, Technical University Dresden, 01307, Dresden, Germany.
Remco M HoogenboezemDepartment of Hematology, Erasmus Medical Center, 3015 CN, Rotterdam, The Netherlands.
Bernd KasperSarcoma Unit, Interdisciplinary Tumor Center Mannheim, Mannheim University Medical Center, Heidelberg University, 68167, Mannheim, Germany.
Christoph E HeiligDepartment of Internal Medicine V, Heidelberg University Hospital, 69120, Heidelberg, Germany.
Gerlinde EgererDepartment of Internal Medicine V, Heidelberg University Hospital, 69120, Heidelberg, Germany.
Stephan WolfGenomics and Proteomics Core Facility, DKFZ, 69120, Heidelberg, Germany.
Christof von KalleDivision of Translational Oncology, National Center for Tumor Diseases (NCT) Heidelberg and German Cancer Research Center (DKFZ), 69120, Heidelberg, Germany.
Roland EilsDivision of Theoretical Bioinformatics, DKFZ, 69120, Heidelberg, Germany.ORCID http://orcid.org/0000-0002-0034-4036
Albrecht StenzingerGerman Cancer Consortium (DKTK), 69120, Heidelberg, Germany.
Wilko WeichertInstitute of Pathology, Technical University Munich, 81675, Munich, Germany.
Hanno GlimmDivision of Translational Oncology, National Center for Tumor Diseases (NCT) Heidelberg and German Cancer Research Center (DKFZ), 69120, Heidelberg, Germany.
Stefan GröschelDivision of Translational Oncology, National Center for Tumor Diseases (NCT) Heidelberg and German Cancer Research Center (DKFZ), 69120, Heidelberg, Germany.
Hans-Georg KoppDepartment of Hematology and Oncology, Eberhard Karls University, 72076, Tübingen, Germany.
Georg OmlorDepartment of Orthopedics, Heidelberg University Hospital, 69118, Heidelberg, Germany.
Burkhard LehnerDepartment of Orthopedics, Heidelberg University Hospital, 69118, Heidelberg, Germany.
Sebastian BauerSarcoma Center, Western German Cancer Center, 45147, Essen, Germany.
Simon SchimmackDepartment of General, Visceral and Transplantation Surgery, Heidelberg University Hospital, 69120, Heidelberg, Germany.
Alexis UlrichDepartment of General, Visceral and Transplantation Surgery, Heidelberg University Hospital, 69120, Heidelberg, Germany.
Gunhild MechtersheimerInstitute of Pathology, Heidelberg University Hospital, 69120, Heidelberg, Germany.
Karsten RippeResearch Group Genome Organization and Function, DKFZ and BioQuant Center, 69120, Heidelberg, Germany.ORCID http://orcid.org/0000-0001-9951-9395
Benedikt BrorsDivision of Applied Bioinformatics, DKFZ and NCT Heidelberg, 69120, Heidelberg, Germany.ORCID http://orcid.org/0000-0001-5940-3101
Barbara HutterDivision of Applied Bioinformatics, DKFZ and NCT Heidelberg, 69120, Heidelberg, Germany.ORCID http://orcid.org/0000-0002-9034-0329
Marcus RennerInstitute of Pathology, Heidelberg University Hospital, 69120, Heidelberg, Germany.
Peter HohenbergerSarcoma Unit, Interdisciplinary Tumor Center Mannheim, Mannheim University Medical Center, Heidelberg University, 68167, Mannheim, Germany.
Claudia SchollDivision of Translational Oncology, National Center for Tumor Diseases (NCT) Heidelberg and German Cancer Research Center (DKFZ), 69120, Heidelberg, Germany.
Stefan FröhlingDivision of Translational Oncology, National Center for Tumor Diseases (NCT) Heidelberg and German Cancer Research Center (DKFZ), 69120, Heidelberg, Germany. stefan.froehling@nct-heidelberg.de.
Heidelberg University · DEGerman Cancer Research Center · DEErasmus MC · NLUniversity Hospital Carl Gustav Carus · DEDeutsche Knochenmarkspenderdatei · DEInstitut für Rundfunktechnik · DERWE (Germany) · DE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Leiomyosarcoma (LMS) is an aggressive mesenchymal malignancy with few therapeutic options. The mechanisms underlying LMS development, including clinically actionable genetic vulnerabilities, are largely unknown. Here we show, using whole-exome and transcriptome sequencing, that LMS tumors are characterized by substantial mutational heterogeneity, near-universal inactivation of TP53 and RB1, widespread DNA copy number alterations including chromothripsis, and frequent whole-genome duplication. Furthermore, we detect alternative telomere lengthening in 78% of cases and identify recurrent alterations in telomere maintenance genes such as ATRX, RBL2, and SP100, providing insight into the genetic basis of this mechanism. Finally, most tumors display hallmarks of "BRCAness", including alterations in homologous recombination DNA repair genes, multiple structural rearrangements, and enrichment of specific mutational signatures, and cultured LMS cells are sensitive towards olaparib and cisplatin. This comprehensive study of LMS genomics has uncovered key biological features that may inform future experimental research and enable the design of novel therapies.

Indexed as

AdultAgedAged, 80 and overChromothripsisDNA Copy Number VariationsExome SequencingFemaleGene DuplicationGene Expression ProfilingGenes, p53Genes, RetinoblastomaGenomicsHumansLeiomyosarcomaMaleMiddle Aged

Identifiers

PMID29321523
PMCPMC5762758
OpenAlexW2782477516

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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.