Custom pyrosequencing assay to detect short BRAF deletions in Langerhans cell histiocytic lesions.

Abstract excerpt

Langerhans cell histiocytosis (LCH) is a rare inflammatory myeloid neoplastic disease driven by activating mutations in the mitogen-activating protein kinase signalling pathway, including the BRAF V600E mutation and BRAF deletions (BRAFdel). Next-generation sequencing and whole exome sequencing (...

Topics

• Biopsy
• Gene Deletion
• Genetic Predisposition to Disease
• High-Throughput Nucleotide Sequencing
• Histiocytosis, Langerhans-Cell
• Humans
• Phenotype
• Predictive Value of Tests
• Proto-Oncogene Proteins B-raf
• Reproducibility of Results
• Exome Sequencing