Clinical Revelance
The epidermal growth factor receptor (EGFR) is an established therapeutic target in HNSCC. The first targeted therapy for HNSCC to exploit EGFR was approved in 2006,1 and recently two immunotherapies have been incorporated into clinical practice.2,3 However, molecular testing is not routinely performed in HNSCC evaluation, except for the presence of tumor-expressed HPV, which represents a distinct subtype with a generally favorable prognosis. Recent advances in comprehensive genomic characterization of HNSCC have revealed numerous molecular alterations that are actively being pursued as therapeutic targets.4
Activating mutations in HRAS and PIK3CA have been characterized for HPV-negative HNSCC and may be indications for novel personalized therapies.
Analyzing circulating tumor DNA (ctDNA) is an attractive option to detect HNSCC-specific mutations via a minimally invasive blood draw. This would be a preferred method to determine the mutational profile of a patient’s tumor since tissue biopsy specimens are not readily available for patients considering later line therapies.
Enabling discoveries in biopharma
HNSCC-SEQ has been designed for human papillomavirus (HPV)-negative patients and can be used to detect novel therapeutic targets and frequently occurring driver mutations for treatment response monitoring. HNSCC-SEQ delivers high-sensitivity mutation detection in HNSCC with a limit of detection of 0.04% MAF.