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Published on: October 20, 2017
KRAS/BRAF mutations in brain arteriovenous malformations: A systematic review and meta-analysis
Omid Bameri1, Morteza Salarzaei1, Fateme Parooie1
1Department of Medicine, Zabol University of Medical Sciences, Zabol, Iran.
Introduction:
Somatic KRAS mutations have been identified in the majority of brain arteriovenous malformations (AVM) specimens. The aim of our study was to evaluate the prevalence of Kirsten rat sarcoma (KRAS)/murine sarcoma viral oncogene homolog B1 (BRAF) mutations in brain AVM.
Methods:
A systematic literature review was performed in November 2019. We reviewed MEDLINE/PubMed, Cochrane Library, and ClinicalTrials.gov for citation or ongoing trials from January 2010 to March 2020.
Results:
6 studies were identified as meeting the inclusion criteria of this review. The total frequency of KRAS mutations in 1726 patients with AVM was 55%. The prevalence of BRAF mutation was 7.5%. The prevalence of AVMs with grade 2 was the most (39%). Frontal and parietal lobes were the commonest sites of AVMs (21%). the most prevalent presentation of patients with AVM was hemorrhage (62%).
Conclusion:
Our findings support a high prevalence of somatic activating mutations in KRAS and less commonly, BRAF in the overwhelming majority of brain AVMs. Practically and importantly, this pathway homogeneity in CNS arteriovenous malformations also supports the development of targeted therapies with RAS/RAF pathway inhibitors. However, more studies are needed to confirm this hypothesis.
Insights
Somatic Kirsten rat sarcoma (KRAS) mutations are prevalent in brain arteriovenous malformations (AVM). This finding supports targeted therapies for AVMs, though further research is needed.
Area of Science:
- Neuroscience
- Genetics
- Oncology
Background:
- Somatic KRAS mutations are frequently found in brain arteriovenous malformation (AVM) specimens.
- Understanding the prevalence of KRAS and BRAF mutations is crucial for AVM research.
Purpose of the Study:
- To evaluate the prevalence of Kirsten rat sarcoma (KRAS) and murine sarcoma viral oncogene homolog B1 (BRAF) mutations in brain AVMs.
- To investigate the genetic underpinnings of brain AVMs.
Main Methods:
- A systematic literature review was conducted.
- Databases searched included MEDLINE/PubMed, Cochrane Library, and ClinicalTrials.gov.
- Studies published between January 2010 and March 2020 were included.
Main Results:
- KRAS mutations were found in 55% of 1726 AVM patients.
- BRAF mutations occurred in 7.5% of cases.
- Grade 2 AVMs (39%), frontal/parietal lobe locations (21%), and hemorrhage (62%) were most common.
Conclusions:
- A high prevalence of somatic KRAS and BRAF mutations exists in brain AVMs.
- This genetic homogeneity suggests potential for targeted therapies using RAS/RAF pathway inhibitors.
- Further studies are required to validate these findings and therapeutic implications.
