ArticlePloS one2017
Multiple components of PKA and TGF-β pathways are mutated in pseudomyxoma peritonei.
Article in PloS one, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 1 of them a synthesis that pooled it.
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Who cites it
11 citing papers in PubMed, 1 synthesis or guideline pooled it, 18 citations in OpenAlex.
- The genetic profile and molecular subtypes of human pseudomyxoma peritonei and appendiceal mucinous neoplasms: a systematic review.Cancer metastasis reviews · 2023Pooled it
- Review
- A combinatorial culture strategy to develop pseudomyxoma peritonei organoid models.Journal of surgical oncology · 2024Article
- Review
- Prognostic significance of CEA, Ki67 and p53 in pseudomyxoma peritonei of appendiceal origin.The Journal of international medical research · 2021Article
- Omics analyses in peritoneal metastasis-utility in the management of peritoneal metastases from colorectal cancer and pseudomyxoma peritonei: a narrative review.Journal of gastrointestinal oncology · 2021Review
- Germline and somatic genetic alterations in two first-degree relatives with appendiceal low-grade mucinous carcinoma peritonei.Clinical case reports · 2020Article
- Role of Epithelial-Mesenchymal Plasticity in Pseudomyxoma Peritonei: Implications for Locoregional Treatments.International journal of molecular sciences · 2020Review
- The biological basis and function of GNAS mutation in pseudomyxoma peritonei: a review.Journal of cancer research and clinical oncology · 2020Review
- The molecular origin and taxonomy of mucinous ovarian carcinoma.Nature communications · 2019Article
- Glycomic Profiling Highlights Increased Fucosylation in Pseudomyxoma Peritonei.Molecular & cellular proteomics : MCP · 2018Article
Corrections and comments
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Authors and funding
10 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Pseudomyxoma peritonei (PMP) is a subtype of mucinous adenocarcinoma mainly restricted to the peritoneal cavity and most commonly originating from the appendix. The genetic background of PMP is poorly understood and no targeted treatments are currently available for this fatal disease. While RAS signaling pathway is affected in most if not all PMP cases and over half of them also have a mutation in the GNAS gene, other genetic alterations and affected pathways are, to a large degree, poorly known. In this study, we sequenced whole coding genome of nine PMP tumors and paired normal tissues in order to identify additional, commonly mutated genes and signaling pathways affected in PMP. These exome sequencing results were validated with an ultra-deep amplicon sequencing method, leading to 14 validated variants. The validated results contain seven genes that contribute to the protein kinase A (PKA) pathway. PKA pathway, which also contains GNAS, is a major player of overproduction of mucin, which is the characteristic feature of PMP. In addition to PKA pathway, we identified mutations in six genes that belong to the transforming growth factor beta (TGF-β) pathway, which is a key regulator of cell proliferation. Since either GNAS mutation or an alternative mutation in the PKA pathway was identified in 8/9 patients, inhibition of the PKA pathway might reduce mucin production in most of the PMP patients and potentially suppress disease progression.
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