Evidence map›Paper›PMID 23685749›Full record

ArticleNature genetics2013

The mutational landscape of adenoid cystic carcinoma.

Allen S Ho, Kasthuri Kannan, David M Roy, Luc G T Morris, Ian Ganly, Nora Katabi, Deepa Ramaswami, Logan A Walsh, Stephanie Eng, Jason T Huse and 28 more

Registry-linked trialOpen access · greenAbstract read
In one paragraph

Article in Nature genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT07695311 (Precision Analysis of Fusion Genes in Ewing Sarcoma), which is not on this map. Cited by 261 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
261citing papers in PubMed, 1 pooled it
34.3field-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.

NCT07695311 phase1not yet recruitingnot on this mapstarted 2026, after this paper: background citation

Precision Analysis of Fusion Genes in Ewing Sarcoma (ES) and Desmoplastic Small Round Cell Tumor (DSRCT), Then EWSR1 (Ewing Sarcoma Gene Breakpoint Region 1 Gene) Immunotherapy Without or With Anti-CTLA-4 (Botensilimab) and Anti-PD1 (Balstilimab)

TypeinterventionalSponsorRabi HannaRan2026 to 2030Enrolled24ConditionsEwing Sarcoma, Desmoplastic Small Round Cell TumorArmsEWSR1 immunotherapy, Botensilimab, Balstilimab
3 · Its place in the literature

Who cites it

261 citing papers in PubMed, 1 synthesis or guideline pooled it, 455 citations in OpenAlex.

  1. Clinicopathological Profile of Intraosseous Adenoid Cystic Carcinoma of the Jaws: A Systematic Review.Journal of oral pathology & medicine : official publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology · 2026
    Pooled it
  2. Axitinib plus Avelumab in Recurrent/Metastatic Adenoid Cystic Carcinoma: Biomarker Analysis and Updated Results of the Phase II Trial.Clinical cancer research : an official journal of the American Association for Cancer Research · 2026
    Trial
  3. Trial
  4. Phase 2 Trial of Regorafenib in Recurrent/Metastatic Adenoid Cystic Carcinoma.Clinical cancer research : an official journal of the American Association for Cancer Research · 2024
    Trial
  5. Trial
  6. Trial
  7. Phase II Study of Lenvatinib in Patients With Progressive, Recurrent or Metastatic Adenoid Cystic Carcinoma.Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2019
    Trial
  8. Trial
  9. A phase II study of axitinib (AG-013736) in patients with incurable adenoid cystic carcinoma.Annals of oncology : official journal of the European Society for Medical Oncology · 2016
    Trial
  10. Article
  11. Article
  12. Article
  13. Article
  14. Fibroblast growth factor receptor signaling in head and neck tumors: molecular pathogenesis and potential therapeutic targets.Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2026
    Review
  15. Article
  16. Article
  17. Article
  18. Article
  19. Article
  20. Article

201 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

38 authors at 5 institutions in 3 countries.

Allen S HoHuman Oncology and Pathogenesis Program, Memorial Sloan-Kettering Cancer Center, New York, NY, USA.
Kasthuri Kannan
David M Roy
Luc G T Morris
Ian Ganly
Nora Katabi
Deepa Ramaswami
Logan A Walsh
Stephanie Eng
Jason T Huse
Jianan Zhang
Igor Dolgalev
Kety Huberman
Adriana Heguy
Agnes Viale
Marija Drobnjak
Margaret A Leversha
Christine E Rice
Bhuvanesh Singh
N Gopalakrishna Iyer
C Rene Leemans
Elisabeth Bloemena
Robert L Ferris
Raja R Seethala
Benjamin E Gross
Yupu Liang
Rileen Sinha
Luke Peng
Benjamin J Raphael
Sevin Turcan
Yongxing Gong
Nikolaus Schultz
Seungwon Kim
Simion Chiosea
Jatin P Shah
Chris Sander
William Lee
Timothy A Chan
Memorial Sloan Kettering Cancer Center · USUniversity of Pittsburgh Medical Center · USAmsterdam UMC Location VUmc · NLBrown University · USNational Cancer Centre Singapore · SG

Funding

X-RAY CRYSTALLOGRAPHYP30CA008748 · NCI · SLOAN-KETTERING INSTITUTE FOR CANCER RES · PI Nicholas D Socci · 1985 to 2026
$347.4M
Weill Cornell/Rockefeller/Sloan-Kettering MST ProgramT32GM007739 · NIGMS · WEILL MEDICAL COLL OF CORNELL UNIV · PI HSU, KATHARINE C · 1985 to 2023
$51.1M
TR&D 3 - Network Guided Machine LearningP41GM103504 · NIGMS · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI IDEKER, TREY · 2012 to 2024
$17.3M
HEAD AND NECK TRAINING PROGRAM SURGICAL ONCOLOGYT32CA009685 · NCI · SLOAN-KETTERING INSTITUTE FOR CANCER RES · PI FAGIN, JAMES A, WONG, RICHARD J · 1992 to 2022
$3.6M
Computational Approaches for Structural Variation Studies in GenomesR01HG005690 · NHGRI · BROWN UNIVERSITY · PI RAPHAEL, BENJAMIN · 2011 to 2015
$2.4M
Translational Research in Oncology Training ProgramT32CA160001 · NCI · SLOAN-KETTERING INST CAN RESEARCH · PI SAWYERS, CHARLES L. · 2011 to 2020
$2.0M
Elucidating the function of the widely inactivated phosphatase PTPRD in the molecR01CA154767 · NCI · SLOAN-KETTERING INST CAN RESEARCH · PI CHAN, TIMOTHY AN-THY · 2011 to 2015
$1.9M
The mutational landscapes underlying aggressiveness in adenoid cystic carcinomaR21DE023229 · NIDCR · SLOAN-KETTERING INST CAN RESEARCH · PI CHAN, TIMOTHY AN-THY · 2012 to 2013
$470k
NCI NIH HHS 5T32CA009685NCI NIH HHS P30 CA008748NCI NIH HHS R01 CA154767NCI NIH HHS R01CA154767NCI NIH HHS T32 CA009685NCI NIH HHS T32 CA160001NHGRI NIH HHS R01 HG005690NIDCR NIH HHS R21 DE023229NIDCR NIH HHS R21DE023229NIGMS NIH HHS GM103504NIGMS NIH HHS P41 GM103504NIGMS NIH HHS T32 GM007739
6 · The paper itself

Abstract

Adenoid cystic carcinomas (ACCs) are among the most enigmatic of human malignancies. These aggressive salivary gland cancers frequently recur and metastasize despite definitive treatment, with no known effective chemotherapy regimen. Here we determined the ACC mutational landscape and report the exome or whole-genome sequences of 60 ACC tumor-normal pairs. These analyses identified a low exonic somatic mutation rate (0.31 non-silent events per megabase) and wide mutational diversity. Notably, we found mutations in genes encoding chromatin-state regulators, such as SMARCA2, CREBBP and KDM6A, suggesting that there is aberrant epigenetic regulation in ACC oncogenesis. Mutations in genes central to the DNA damage response and protein kinase A signaling also implicate these processes. We observed MYB-NFIB translocations and somatic mutations in MYB-associated genes, solidifying the role of these aberrations as critical events in ACC. Lastly, we identified recurrent mutations in the FGF-IGF-PI3K pathway (30% of tumors) that might represent new avenues for therapy. Collectively, our observations establish a molecular foundation for understanding and exploring new treatments for ACC.

Indexed as

MutationAnimalsCarcinoma, Adenoid CysticCase-Control StudiesCells, CulturedCell Transformation, NeoplasticChlorocebus aethiopsCOS CellsDNA Mutational AnalysisGene Expression ProfilingGenetic Association StudiesHumansModels, BiologicalSalivary Gland NeoplasmsSignal TransductionTissue Array Analysis

Identifiers

PMID23685749
PMCPMC3708595
OpenAlexW1992894543

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

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.