ArticleCancer medicine2016
AKT1 and BRAF mutations in pediatric aggressive fibromatosis.
Article in Cancer medicine, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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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.
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Who cites it
22 citing papers in PubMed, 34 citations in OpenAlex.
- Trial
- Challenges in Diagnosing Adolescent Goiter: A Case Report with Brief Literature Insights in Juvenile Desmoid-Type Fibromatosis of the Thyroid Gland.Journal of clinical medicine · 2025Review
- Genomic, Epigenomic, and Transcriptomic Inter- and Intratumor Heterogeneity in Desmoid Tumors.Clinical cancer research : an official journal of the American Association for Cancer Research · 2025Article
- Case Report: Gefitinib in EGFR 19del recurrent aggressive fibromatosis.Frontiers in oncology · 2025Article
- Different Shades of Desmoid-Type Fibromatosis (DTF): Detection of Noval Mutations in the Clinicopathologic Analysis of 32 Cases.Diagnostics (Basel, Switzerland) · 2024Article
- Correlation between biological and mechanical properties of extracellular matrix from colorectal peritoneal metastases in human tissues.Scientific reports · 2023Article
- Recurring desmoid tumor of the neck: A case report.Clinical case reports · 2023Article
- A Review of the Clinical Presentation, Outcomes, and Treatments of Patients Having Desmoid Tumors.Gastro hep advances · 2023Review
- Fatal sclerosing mesenteritis: a 7-year-old male autopsy case report.Autopsy & case reports · 2023Article
- Molecular Pathogenesis of Sporadic Desmoid Tumours and Its Implications for Novel Therapies: A Systematised Narrative Review.Targeted oncology · 2022Review
- Desmoid fibromatosis in the pharyngeal wall: A case report and literature review.Clinical case reports · 2022Article
- Rationale for the use of tyrosine kinase inhibitors in the treatment of paediatric desmoid-type fibromatosis.British journal of cancer · 2021Review
- Novel pathogenic alterations in pediatric and adult desmoid-type fibromatosis - A systematic analysis of 204 cases.Scientific reports · 2020Article
- Activated Signaling Pathways and Targeted Therapies in Desmoid-Type Fibromatosis: A Literature Review.Frontiers in oncology · 2019Review
- Clinical prognostic factors for pediatric extra-abdominal desmoid tumor: analyses of 66 patients at a single institution.World journal of surgical oncology · 2018Article
- [Minutes of the meeting of the working group on bone, joint, and soft tissue pathology : DGP Congress on 24 May 2018, Berlin].Der Pathologe · 2018Article
- Juvenile xanthogranuloma involving concurrent iris and skin: Clinical, pathological and molecular pathological evaluations.American journal of ophthalmology case reports · 2018Article
- Orbital Desmoid-Type Fibromatosis: A Case Report and Literature Review.Case reports in oncological medicine · 2018Article
- Overexpression of MUC1 and Genomic Alterations in Its Network Associate with Prostate Cancer Progression.Neoplasia (New York, N.Y.) · 2017Article
- Papillary thyroid carcinoma with nodular fasciitis-like stroma and β-catenin mutations should be renamed papillary thyroid carcinoma with desmoid-type fibromatosis.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2017Article
Corrections and comments
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Authors and funding
13 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Aside from the CTNNB1 and adenomatous polyposis coli (APC) mutations, the genetic profile of pediatric aggressive fibromatosis (AF) has remained poorly characterized. The aim of this study was to shed more light on the mutational spectrum of pediatric AF, comparing it with its adult counterpart, with a view to identifying biomarkers for use as prognostic factors or new potential therapeutic targets. CTNNB1, APC, AKT1, BRAF TP53, and RET Sanger sequencing and next-generation sequencing (NGS) with the 50-gene Ion AmpliSeq Cancer Hotspot Panel v2 were performed on formalin-fixed samples from 28 pediatric and 33 adult AFs. The prognostic value of CTNNB1, AKT1, and BRAF mutations in pediatric AF patients was investigated. Recurrence-free survival (RFS) curves were estimated with the Kaplan-Meier method and statistical comparisons were drawn using the log-rank test. In addition to the CTNNB1 mutation (64%), pediatric AF showed AKT1 (31%), BRAF (19%), and TP53 (9%) mutations, whereas only the CTNNB1 mutation was found in adult AF. The polymorphism Q472H VEGFR was identified in both pediatric (56%) and adult (40%) AF. Our results indicate that the mutational spectrum of pediatric AF is more complex than that of adult AF, with multiple gene mutations involving not only CTNNB1 but also AKT1 and BRAF. This intriguing finding may have clinical implications and warrants further investigations.
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