Molecular Pathology

Our Molecular Pathology Laboratory is part of the Genomic and Molecular Pathology Division at the University of Chicago Medicine. We analyze DNA and RNA to make diagnoses, help select therapy, and monitor disease status in several broad areas.

Molecular diagnostics is used in hematology for the detection of leukemia/lymphoma-associated mutations for diagnosis, the monitoring of minimal residual disease (by quantitative monitoring of mutations), and the monitoring of bone marrow transplantation through the measurement of donor and recipient genotypes in blood and bone marrow. The Molecular Pathology Laboratory also tests for a variety of mutations in colon cancer, lung cancer, and melanoma. Some, like microsatellite instability in colon cancer and endometrial cancer, suggest familial cancer syndromes and can have an impact on prognosis. Others, like EGFR and K-RAS mutations, are critical to determinations about very expensive ($50,000–$100,000) therapies.

Our Laboratory uses next-generation sequencing (NGS), a methodology that can interrogate tens of thousands of regions of genomic tumor DNA or RNA in a single assay. We use state-of-the-art NGS sequencing equipment and computer analysis tools to analyze the function and structure of genomes. These capabilities allow us to monitor and explore the genome in a fraction of the time compared to other methodologies.

Many hematologic neoplasms are characterized by morphologic or phenotypic similarities, but can have characteristic somatic mutations in many genes. In addition, many myeloid neoplasms lack a clonal cytogenetic finding at diagnosis (normal karyotype) but can be diagnosed and classified according to gene mutation profile. The presence and pattern of gene mutations can provide critical diagnostic, prognostic, and sometimes therapeutic information for the managing physicians.

For our clients, we can help predict the behavior of cancer and other diseases and forecast how they will respond to therapy, allowing for the development of more personalized treatment plans.