KRAS and BRAF mutation status in circulating colorectal tumor cells and their correlation with primary and metastatic tumor tissue

摘要: Although anti-EGFR therapy has established efficacy in metastatic colorectal cancer, only 10-20% of unselected patients respond. This is partly due to KRAS and BRAF mutations, which are currently assessed the primary tumor. To improve patient selection, assessing mutation status circulating tumor cells (CTCs), possibly better represent metastases than tumor, could be advantageous. We investigated feasibility detection CTCs by comparing three sensitive methods compared matching liver metastasis CTCs. were isolated from blood drawn 49 before resection using CellSearch™. DNA RNA was tumors, Mutations co-amplification at lower denaturation temperature-PCR (Transgenomic™), real-time PCR (EntroGen™) nested Allele-Specific Blocker (ASB-)PCR confirmed Sanger sequencing. In 43 patients, tissue sufficient quantity quality. these discordance between 23% for 7% mutations. available 42 ASB-PCR able detect most Inconclusive results with low CTC counts limited interpretation discrepancies Determination mutations challenging but feasible. Of tested methods, ASB-PCR, enabling as little two CTCs, seems superior.