Gene Sequencing Technique Improves Detection of Lymphoid Cancer-Associated Mutations

Submitted by onc_editor on Thu, 02/15/2018 - 05:53

A recent comparative effectiveness study analyzed hybrid capture-based sequencing vs amplicon gene sequencing for the detection of cancer-specific mutations in lymphoid tumors.

The study was published in the Journal of Molecular Diagnostics (March 2018;20[2]:203-214).

The two commonly used methods for gene sequencing panels in lymphoid tumors are hybrid capture-based sequencing and amplicon-based sequencing. While the latter option is often used because it requires only a short preparation time and a limited amount of DNA, hybrid capture-based sequencing may be the more accurate testing option.

Stacy S Hung, PhD, Center for Lymphoid Cancer, BC Cancer Agency (Vancouver, Canada), and colleagues conducted a study to determine the optimal targeted sequencing platform for detection of mutations in lymphoid cancer. A pipeline consisting of a 32-gene panel was developed that could detect mutations associated with some of the most common types of lymphoid cancer, including chronic lymphocytic leukemia, diffuse large B-cell lymphoma, and follicular lymphoma. A six-person team of hematology pathologists, clinician oncologists, and translational scientists was formed to choose these genes.

Researchers aimed to accurately detect the full spectrum of mutations in the gene panel using tumor samples from patients with lymphoma.

Results of the study showed that hybrid capture-based sequencing was superior to amplicon gene sequencing in providing deep, more uniform coverage and yielding higher sensitivity for mutation identification.

Additionally, the gene panel identified at least one mutation in 91% of tumors from over 219 patients with lymphoma. The gene panel was able to determine subtype-specific mutation patterns and frequencies that were previously identified in published studies.

“This pipeline is an accurate and sensitive method for identifying actionable gene mutations in routinely acquired biopsy materials, suggesting further assessment of capture-based assays in the context of personalized lymphoma management,” Dr Hung and colleagues concluded. “Our results warrant further development of capture sequencing assays in regulated diagnostic pathology environments, to demonstrate clinical utility and socioeconomic benefit.—Zachary Bessette