The Italian external quality assessment for RAS testing in colorectal carcinoma identifies methods-related inter-laboratory differences

摘要: In 2014 the European Medicines Agency included exon 2, 3 and 4 KRAS NRAS testing for selection of metastatic colorectal cancer (mCRC) patients eligible therapy with anti-EGFR monoclonal antibodies. The Italian Association Medical Oncology (AIOM) Society Pathology Cytology (SIAPEC) organized an external quality assessment (EQA) scheme CRC to evaluate inter-laboratory consistency ensure standardization results in transition from all-RAS testing. Ten formalin fixed paraffin embedded specimens including KRAS/NRAS (exons 3, 4) BRAF (codon 600) mutations were validated by three referral laboratories sent 88 participant centers. Molecular pathology sample reports also requested each laboratory. A board assessors AIOM SIAPEC evaluated according a predefined scoring system. was composed two rounds. first round 36 % participants failed, 23 centers having at least one false positive or negative while 9 did not meet deadline. genotyping error rate higher when Sanger sequencing employed as compared pyrosequencing (3 vs 1.3 %; p = 0.01; Pearson Chi Square test). second round, improved their performance, 23/32 passing round. Overall, 79/88 passed RAS EQA scheme. Standardized Human Genome Variation nomenclature incorrectly used describe identified relevant variations noticed genotype specification. indicate that mutational analyses are performed good many centers, although significant differences methods highlighted. relatively high number failing underlines fundamental role continued education covered schemes.