Evidence map›Paper›PMID 27072194›Full record

ArticleGenes, chromosomes & cancer2016

Genomic aberrations frequently alter chromatin regulatory genes in chordoma.

Lu Wang, Ahmet Zehir, Khedoudja Nafa, Nengyi Zhou, Michael F Berger, Jacklyn Casanova, Justyna Sadowska, Chao Lu, C David Allis, Mrinal Gounder and 4 more

Abstract read
In one paragraph

Article in Genes, chromosomes & cancer, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers.

0numbers the graph read from it
0cells of the map it votes in
38citing papers in PubMed
5.4field-weighted citation impact, top 4% 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

38 citing papers in PubMed, 76 citations in OpenAlex.

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  16. Frontiers in oncology · 2022
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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

14 authors at 2 institutions in 1 country.

Lu WangDepartment of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY.
Ahmet ZehirDepartment of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY.
Khedoudja NafaDepartment of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY.
Nengyi ZhouDepartment of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY.
Michael F BergerDepartment of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY.
Jacklyn CasanovaDepartment of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY.
Justyna SadowskaDepartment of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY.
Chao LuDepartment of Laboratory of Chromatin Biology and Epigenetics, the Rockefeller University, New York, NY.
C David AllisDepartment of Laboratory of Chromatin Biology and Epigenetics, the Rockefeller University, New York, NY.
Mrinal GounderDepartment of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY.
Chandhanarat ChandhanayingyongDepartment of Surgery, Memorial Sloan Kettering Cancer Center, New York, NY.
Marc LadanyiDepartment of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY.
Patrick J BolandDepartment of Surgery, Memorial Sloan Kettering Cancer Center, New York, NY.
Meera HameedDepartment of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY.
Memorial Sloan Kettering Cancer Center · USRockefeller University · US

Funding

X-RAY CRYSTALLOGRAPHYP30CA008748 · NCI · SLOAN-KETTERING INSTITUTE FOR CANCER RES · PI Nicholas D Socci · 1985 to 2026
$347.4M
NCI NIH HHS P30 CA008748
6 · The paper itself

Abstract

Chordoma is a rare primary bone neoplasm that is resistant to standard chemotherapies. Despite aggressive surgical management, local recurrence and metastasis is not uncommon. To identify the specific genetic aberrations that play key roles in chordoma pathogenesis, we utilized a genome-wide high-resolution SNP-array and next generation sequencing (NGS)-based molecular profiling platform to study 24 patient samples with typical histopathologic features of chordoma. Matching normal tissues were available for 16 samples. SNP-array analysis revealed nonrandom copy number losses across the genome, frequently involving 3, 9p, 1p, 14, 10, and 13. In contrast, copy number gain is uncommon in chordomas. Two minimum deleted regions were observed on 3p within a ∼8 Mb segment at 3p21.1-p21.31, which overlaps SETD2, BAP1 and PBRM1. The minimum deleted region on 9p was mapped to CDKN2A locus at 9p21.3, and homozygous deletion of CDKN2A was detected in 5/22 chordomas (∼23%). NGS-based molecular profiling demonstrated an extremely low level of mutation rate in chordomas, with an average of 0.5 mutations per sample for the 16 cases with matched normal. When the mutated genes were grouped based on molecular functions, many of the mutation events (∼40%) were found in chromatin regulatory genes. The combined copy number and mutation profiling revealed that SETD2 is the single gene affected most frequently in chordomas, either by deletion or by mutations. Our study demonstrated that chordoma belongs to the C-class (copy number changes) tumors whose oncogenic signature is non-random multiple copy number losses across the genome and genomic aberrations frequently alter chromatin regulatory genes. © 2016 Wiley Periodicals, Inc.

Indexed as

Chromosome AberrationsAdultAgedAged, 80 and overBiomarkers, TumorChordomaChromatinDNA-Binding ProteinsFemaleFollow-Up StudiesHigh-Throughput Nucleotide SequencingHistone-Lysine N-MethyltransferaseHumansImmunoenzyme TechniquesIn Situ Hybridization, FluorescenceMaleBAP1 protein, humanBiomarkers, TumorChromatinDNA-Binding ProteinsHistone-Lysine N-MethyltransferaseNuclear ProteinsPBRM1 protein, humanSETD2 protein, humanTranscription FactorsTumor Suppressor ProteinsUbiquitin Thiolesterase

Identifiers

PMID27072194
PMCPMC5031498
OpenAlexW2337998143

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.