Improved Tumor Purity Metrics in Next-generation Sequencing for Clinical Practice: The Integrated Interpretation of Neoplastic Cellularity and Sequencing Results (IINCaSe) Approach

摘要

Traditional molecular testing methods have relatively high thresholds for Emits of detection. Sanger sequencing can detect > 20% variant allele fraction (VAF) or 40% neoplastic cellularity, while pyrosequencing detects > 5% VAF or 10% neoplastic cellularity.1 It is a standard practice to estimate neoplastic cellularity using hematoxylin and eosin (H&E) light microscopy estimates before testing to ensure that the minimum limit of detection can be met for a certain test method and if necessary, to perform macrodissection to enrich the tumor content of the analyzed tissue. However, it has previously been shown that there is limited reproducibility of estimating tumor cell content by microscopy among pathologists.2"5