Evidence map›Paper›PMID 37939148›Full record

ArticleClinical cancer research : an official journal of the American Association for Cancer Research2024

Impact of Rare Structural Variant Events in Newly Diagnosed Multiple Myeloma.

Monika Chojnacka, Benjamin Diamond, Bachisio Ziccheddu, Even Rustad, Kylee Maclachlan, Marios Papadimitriou, Eileen M Boyle, Patrick Blaney, Saad Usmani, Gareth Morgan and 2 more

Open access · greenAbstract read
In one paragraph

Article in Clinical cancer research : an official journal of the American Association for Cancer Research, 2024. 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
0.3field-weighted citation impact, top 34% 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, 1 citations in OpenAlex.

  1. Article
  2. An Overview of Advances in Rare Cancer Diagnosis and Treatment.International journal of molecular sciences · 2024
    Review
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

12 authors at 4 institutions in 2 countries.

Monika ChojnackaMyeloma Division, Sylvester Comprehensive Cancer Center, University of Miami, Miami, Florida.ORCID 0000-0001-7176-6108
Benjamin DiamondMyeloma Division, Sylvester Comprehensive Cancer Center, University of Miami, Miami, Florida.ORCID 0000-0002-8638-9365
Bachisio ZicchedduMyeloma Division, Sylvester Comprehensive Cancer Center, University of Miami, Miami, Florida.ORCID 0000-0002-2746-0053
Even RustadInstitute for Cancer Research, Oslo University Hospital, Oslo, Norway.ORCID 0000-0002-9320-4963
Kylee MaclachlanMyeloma Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, New York.ORCID 0000-0001-7873-4854
Marios PapadimitriouMyeloma Division, Sylvester Comprehensive Cancer Center, University of Miami, Miami, Florida.ORCID 0009-0009-1852-3495
Eileen M BoyleMyeloma Research Program, NYU Langone, Perlmutter Cancer Center, New York, New York.ORCID 0000-0001-8791-1744
Patrick BlaneyMyeloma Research Program, NYU Langone, Perlmutter Cancer Center, New York, New York.ORCID 0000-0002-9319-8866
Saad UsmaniMyeloma Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, New York.ORCID 0000-0002-5484-8731
Gareth MorganMyeloma Research Program, NYU Langone, Perlmutter Cancer Center, New York, New York.ORCID 0000-0002-4271-6360
Ola Landgren *Myeloma Division, Sylvester Comprehensive Cancer Center, University of Miami, Miami, Florida.ORCID 0000-0001-6485-4839
Francesco Maura *Myeloma Division, Sylvester Comprehensive Cancer Center, University of Miami, Miami, Florida.ORCID 0000-0002-5017-1620
Sylvester Comprehensive Cancer Center · USNYU Langone Health · USMemorial Sloan Kettering Cancer Center · USOslo University Hospital · NO

Funding

X-RAY CRYSTALLOGRAPHYP30CA008748 · NCI · SLOAN-KETTERING INSTITUTE FOR CANCER RES · PI SELWYN M VICKERS · 1985 to 2026
$347.4M
Tumor Biology Research ProgramP30CA240139 · NCI · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI Stephen D. Nimer · 2019 to 2026
$24.1M
UM Calabresi Clinical Oncology Research Career Development AwardK12CA226330 · NCI · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI Alan Pollack · 2018 to 2026
$5.1M
NCI NIH HHS K12 CA226330NCI NIH HHS P30 CA008748NCI NIH HHS P30 CA240139
6 · The paper itself

Abstract

purposeWhole-genome sequencing (WGS) of patients with newly diagnosed multiple myeloma (NDMM) has shown recurrent structural variant (SV) involvement in distinct regions of the genome (i.e., hotspots) and causing recurrent copy-number alterations. Together with canonical immunoglobulin translocations, these SVs are recognized as "recurrent SVs." More than half of SVs were not involved in recurrent events. The significance of these "rare SVs" has not been previously examined. EXPERIMENTAL

designIn this study, we utilize 752 WGS and 591 RNA sequencing data from patients with NDMM to determine the role of rare SVs in myeloma pathogenesis.

resultsNinety-four percent of patients harbored at least one rare SV event. Rare SVs showed an SV class-specific enrichment within genes and superenhancers associated with outlier gene expression. Furthermore, known myeloma driver genes recurrently impacted by point mutations were dysregulated by rare SVs.

conclusionsOverall, we demonstrate the association of rare SVs with aberrant gene expression supporting a potential driver role in myeloma pathogenesis.

Indexed as

Multiple MyelomaDNA Copy Number VariationsGenome, HumanHumansTranslocation, GeneticWhole Genome Sequencing

Identifiers

PMID37939148
PMCPMC10841766
OpenAlexW4388487594

What OpenQuestion holds

Textmetadata
LicenceTDM
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.