Comprehensive molecular and clinicopathological analysis of vascular malformations: A study of 319 cases

Keyphrases

• Molecular Analysis 100%
• Clinicopathological Analysis 100%
• Vascular Malformation 100%
• PIK3CA 75%
• Germline mutation 50%
• Pathogenic mutations 50%
• Isocitrate Dehydrogenase 1 (IDH1) 50%
• GNA11 50%
• Variant Allele Frequency 50%
• Potential Therapeutics 25%
• Aberrations 25%
• Pathway mutation 25%
• RAS-MAPK Pathway 25%
• Germ Cells 25%
• Therapeutic Potential 25%
• Mammalian Target of Rapamycin (mTOR) 25%
• Mutated Genes 25%
• Mutant Alleles 25%
• Clinical Impact 25%
• Mosaic mutation 25%
• Allele Frequency 25%
• Overgrowth Syndrome 25%
• Metagenomic Next-generation Sequencing (mNGS) 25%
• Formalin-fixed Paraffin-embedded Tissue 25%
• AKT1 25%
• Molecular Data 25%
• Parallel Pathways 25%
• Potential Treatments 25%
• Gene Testing 25%
• Treatment Challenges 25%
• 21-gene 25%
• RASA1 25%
• Clinicopathological Classification 25%
• Unique Molecular Identifiers 25%
• Somatic Mosaic mutation 25%

Biochemistry, Genetics and Molecular Biology

• Gene Frequency 100%
• Germline Mutation 66%
• Mosaicism 66%
• IDH1 66%
• GNA11 66%
• GNAQ 66%
• Mitogen-Activated Protein Kinase 33%
• Germline 33%
• Germ Cell 33%
• Allele 33%
• KRAS 33%
• Mammalian Target of Rapamycin 33%
• Mutated Genes 33%
• Next Generation Sequencing 33%
• AKT1 33%