Modern Pathology, Journal Year: 2017, Volume and Issue: 31(1), P. 24 - 38

Published: Nov. 17, 2017

Approximately one-half of advanced (unresectable or metastatic) melanomas harbor a mutation in the BRAF gene, with V600E being most common mutation. Targeted therapy and MEK inhibitors is associated significant long-term treatment benefit patients V600-mutated melanoma. Therefore, molecular testing for mutations priority determining course therapy. A literature search was performed using MEDLINE/PubMed scientific congress databases terms 'BRAF,' 'mutation,' 'cancer/tumor.' These results were filtered to include manuscripts that focused on diagnostic tests status. Numerous methods identified, including DNA-based companion DNA- protein-based laboratory-developed tests. Herein we review characteristics each method highlight strengths weaknesses should be considered before use when interpreting patient. Molecular profiling has shown load increases melanoma tumor progression unique patterns genetic changes evolutionary trajectories different subtypes can occur. Discordance mutational status between primary metastatic lesions, as well intratumoral heterogeneity, known Additionally, development acquired resistance combination inhibitor still formidable obstacle. heterogeneity have important implications ultimately advanced-stage Overall, this information may help community oncologists more accurately effectively interpret within context recent data characterizing progression.

Language: Английский