Li Laboratory Research Overview

Ongoing research in the Li Laboratory is focused on building a database of multi-omics profiles for various types of pediatric cancer (and in the process, potentially redefining the categories of cancer types). Extensive optimization of the methodologies involved in multi-omics profiling – gene panel sequencing, whole exome sequencing, whole genome sequencing, transcriptome sequencing, methylome analysis, and circulome analysis – is currently underway.

Using Next Generation Sequencing Technology in Precision Cancer Care

Marilyn M. Li, MD, and researchers at the Center for Childhood Cancer Research are working on initiatives to improve cancer diagnostics using genetic tests. By using next-generation sequencing (NGS), panels of genes of interest can be sequenced simultaneously, including whole exome, whole genome, or whole transcriptome. This will identify known or unknown mutations in the tumor tissue from patients, contributing to the strength of diagnoses. These mutations may also serve as prognostic markers or identify avenues for possible therapeutic intervention.

Researchers have developed four different gene panels: one for hereditary cancer or cancer predisposition, a second for hematological malignancies, a third for solid tumors, and a fourth for novel fusion genes. They have also developed a cancer transcriptome sequencing for the identification of novel fusion genes or structure variations and gene expression signatures. These panels are currently being used in clinical settings to aid cancer diagnosis, prognosis, and treatment. Ongoing research for future panels is also underway with the eventual goal of providing an extensive menu of diagnostic options to suit the growing needs of patient care.

NGS technology has proved to be invaluable for the emerging technology of cell-free DNA sampling, also known as liquid biopsy. This has the potential to replace invasive biopsy methods, detect early relapse, and even screen for cancer at an extremely early stage. However, cell-free DNA samples are not as rich in cancer genomic material as tumor biopsy samples, and highly sensitive methods such as NGS are required for successful mutation detection.