Foundation Medicine Inc, Cambridge, Mass, and the Institut Gustave Roussy, Paris, have announced the results of a next-generation sequencing (NGS) study of primary and matched metastatic tumor pairs from 15 patients with non-small cell lung cancer (NSCLC) in the May 2013 edition of the Journal of Clinical Oncology (JCO).

The study found 94% concordance between cancer-driving alterations in formalin-fixed, paraffin-embedded (FFPE) archived primary tumor samples and matched metastasis. High concordance in driver alterations suggests genomic profiling of FFPE primary tumor samples can often identify the key driver alterations present in matched NSCLC metastases and that this genomic information may be used to guide treatment upon recurrence.

The study is titled “Next-Generation Sequencing Reveals High Concordance of Recurrent Somatic Alterations Between Primary Tumor and Metastases from Patients with Non-Small Cell Lung Cancer.”

Vincent Miller “This study suggests that cancer-driving alterations in NSCLC are largely homogeneous between the examined primary and matched metastasis, thus FFPE primary tumor samples may be sufficient for clinical genomic profiling in some settings. While additional research is needed and these results cannot be generalized to other settings, this is a promising result for patients, as these samples are often available for analysis without the need for an invasive re-biopsy solely for genotyping.”Vincent Miller, MD, senior vice president of clinical development, Foundation Medicine, and co-author of the study.

“In treating NSCLC patients, physicians are often faced with limited tissue and must make choices in selecting an appropriate tumor sample for molecular analysis, which raises questions about sample type and the necessity of re-biopsy,” says Professor Jean-Charles Soria, Early Innovative Therapies unit director, Medical Oncology Department, Institute Gustave Roussy. “We chose to study one aspect of this issue to provide physicians with data to understand the genomic similarities and differences between primary and metastatic tumors. The results demonstrated a high level of concordance between key alterations in the matched samples for this cohort of patients with NSCLC.”

Primary and matched metastatic tumor pairs from 15 patients were analyzed using a targeted NGS assay in Foundation Medicine’s CLIA-certified lab. Genomic libraries were captured for 3,230 exons in 182 cancer-related genes plus 37 introns from 14 genes often rearranged in cancer and sequenced to high coverage. Among the 30 tumors analyzed (primary and metastatic for each of 15 patients), 311 genomic alterations were identified in total. Of these, 20.3% (63) were suspected drivers of tumor growth while the rest are believed to be passenger alterations. Ten of the 15 patients (66.7%) harbored two or more likely driver alterations.

The study was conducted by researchers from Foundation Medicine in collaboration with a team from the Institut Gustave Roussy in Paris and the University Hospital of Grenoble (CHU of Grenoble), France.

[Source: Foundation Medicine]