作者: Yuri Sheikine , Deepa Rangachari , Danielle C. McDonald , Mark S. Huberman , Erik S. Folch
DOI: 10.1016/J.CLLC.2016.05.016
关键词:
摘要: Expert consensus guidelines have defined minimum requirements for routine testing and identification of classical epidermal growth factor (EGFR) mutations (ie, exon 19 deletions 21 L858R substitution) anaplastic lymphoma kinase (ALK) rearrangements in advanced non-small-cell lung cancers adenocarcinoma histology, with the intent permitting use these predictive biomarkers to select patients who will derive maximal benefit from approved oral tyrosine inhibitors (TKIs) directed against EGFR ALK, respectively. However, practice precision medicine is incumbent upon optimal tumor sampling, accurate testing, informed application results patient care. We report on a brief review methodologies (Sanger sequencing, allele-specific polymerase chain reaction, targeted next-generation sequencing) identify other 18 G719X, insertions, 20 L861Q) mutations; practical considerations (type tissue/biopsies different success rates DNA isolation, timeliness result-reporting facilitate therapeutic decision-making); role rebiopsy (to mechanisms acquired resistance first- second-generation TKIs, most importantly EGFR-T790M); clinical vignettes highlighting nuances day-to-day practice.