Evidence map›Paper›PMID 24944587›Full record

ArticleGenome medicine2014

Genome-wide mutational landscape of mucinous carcinomatosis peritonei of appendiceal origin.

Hakan Alakus, Michele L Babicky, Pradipta Ghosh, Shawn Yost, Kristen Jepsen, Yang Dai, Angelo Arias, Michael L Samuels, Evangeline S Mose, Richard B Schwab and 4 more

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Genome medicine, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 65 papers.

0numbers the graph read from it
0cells of the map it votes in
65citing papers in PubMed
7.6field-weighted citation impact, top 2% 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

65 citing papers in PubMed, 125 citations in OpenAlex.

  1. Trial
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  9. Cyclin-Dependent Kinase 4/6 Inhibition as a Novel Therapy for Peritoneal Mucinous Carcinomatosis With GNAS Mutations.Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2025
    Article
  10. Article
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  13. Precision Oncology and Systemic Targeted Therapy in Pseudomyxoma Peritonei.Clinical cancer research : an official journal of the American Association for Cancer Research · 2024
    Article
  14. Article
  15. Review
  16. Review
  17. Article
  18. Review
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  20. Article

5 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

14 authors at 2 institutions in 1 country.

Hakan AlakusDivision of Genome Information Sciences, Department of Pediatrics and Rady Children's Hospital, University of California San Diego, La Jolla, CA, USA ; Department of General, Visceral and Cancer Surgery, University of Cologne, Köln, Germany.
Michele L BabickyDivision of Surgical Oncology, Department of Surgery, University of California San Diego, La Jolla, CA, USA.
Pradipta GhoshDepartment of Medicine, University of California San Diego, La Jolla, CA, USA ; Moores UCSD Cancer Center, University of California San Diego, La Jolla, CA, USA.
Shawn YostBioinformatics Graduate Program, University of California San Diego, La Jolla, CA, USA.
Kristen JepsenDivision of Genome Information Sciences, Department of Pediatrics and Rady Children's Hospital, University of California San Diego, La Jolla, CA, USA.
Yang DaiDivision of Genome Information Sciences, Department of Pediatrics and Rady Children's Hospital, University of California San Diego, La Jolla, CA, USA.
Angelo AriasDivision of Genome Information Sciences, Department of Pediatrics and Rady Children's Hospital, University of California San Diego, La Jolla, CA, USA.
Michael L SamuelsRainDance Technologies, Lexington, MA, USA.
Evangeline S MoseDivision of Surgical Oncology, Department of Surgery, University of California San Diego, La Jolla, CA, USA.
Richard B SchwabDepartment of Medicine, University of California San Diego, La Jolla, CA, USA ; Moores UCSD Cancer Center, University of California San Diego, La Jolla, CA, USA.
Michael R PetersonDepartment of Pathology, University of California San Diego, La Jolla, CA, USA.
Andrew M LowyDivision of Surgical Oncology, Department of Surgery, University of California San Diego, La Jolla, CA, USA ; Moores UCSD Cancer Center, University of California San Diego, La Jolla, CA, USA.
Kelly A FrazerDivision of Genome Information Sciences, Department of Pediatrics and Rady Children's Hospital, University of California San Diego, La Jolla, CA, USA ; Moores UCSD Cancer Center, University of California San Diego, La Jolla, CA, USA ; Clinical and Translational Science Institute, University of California San Diego, La Jolla, CA, USA ; Institute for Genomic Medicine, University of California San Diego, La Jolla, CA, USA.
Olivier HarismendyDivision of Genome Information Sciences, Department of Pediatrics and Rady Children's Hospital, University of California San Diego, La Jolla, CA, USA ; Moores UCSD Cancer Center, University of California San Diego, La Jolla, CA, USA ; Clinical and Translational Science Institute, University of California San Diego, La Jolla, CA, USA.
University of California, San Diego · USRady Children's Hospital-San Diego · US

Funding

VIRAL MALIGNANCYP30CA023100 · NCI · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI DIANE M SIMEONE · 1985 to 2026
$124.9M
UCSD Cancer Center Training Program in Drug DevelopmentT32CA121938 · NCI · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI Michael Bouvet, Dwayne G. Stupack · 2006 to 2026
$10.3M
Modulation of G proteins by Growth FactorsR01CA160911 · NCI · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI GHOSH, PRADIPTA · 2013 to 2017
$1.8M
NCI NIH HHS P30 CA023100NCI NIH HHS R01 CA160911NCI NIH HHS T32 CA121938
6 · The paper itself

Abstract

backgroundMucinous neoplasms of the appendix (MNA) are rare tumors which may progress from benign to malignant disease with an aggressive biological behavior. MNA is often diagnosed after metastasis to the peritoneal surfaces resulting in mucinous carcinomatosis peritonei (MCP). Genetic alterations in MNA are poorly characterized due to its low incidence, the hypo-cellularity of MCPs, and a lack of relevant pre-clinical models. As such, application of targeted therapies to this disease is limited to those developed for colorectal cancer and not based on molecular rationale.

methodsWe sequenced the whole exomes of 10 MCPs of appendiceal origin to identify genome-wide somatic mutations and copy number aberrations and validated significant findings in 19 additional cases.

resultsOur study demonstrates that MNA has a different molecular makeup than colorectal cancer. Most tumors have co-existing oncogenic mutations in KRAS (26/29) and GNAS (20/29) and are characterized by downstream PKA activation. High-grade tumors are GNAS wild-type (5/6), suggesting they do not progress from low-grade tumors. MNAs do share some genetic alterations with colorectal cancer including gain of 1q (5/10), Wnt, and TGFβ pathway alterations. In contrast, mutations in TP53 (1/10) and APC (0/10), common in colorectal cancer, are rare in MNA. Concurrent activation of the KRAS and GNAS mediated signaling pathways appears to be shared with pancreatic intraductal papillary mucinous neoplasm.

conclusionsMNA genome-wide mutational analysis reveals genetic alterations distinct from colorectal cancer, in support of its unique pathophysiology and suggests new targeted therapeutic opportunities.

Identifiers

PMID24944587
PMCPMC4062050
OpenAlexW2104644129

What OpenQuestion holds

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Registered trials

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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.