Approximately 80% of all cancers are known to be affected by both somatic mutations and copy number changes. Furthermore, recent publications have shown that in certain types of cancers, copy number variations (CNVs) play a more important role than somatic mutations. It is therefore vital to map CNVs in solid tumor samples to fully profile tumors and identify new biomarkers. This webinar will explore the importance of copy number analysis, specifically in the research of leiomyosarcoma (LMS) and melanoma, as well as highlight the use of Applied Biosystems™ OncoScan™ CNV assays for profiling copy number alterations across the genome.
Leiomyosarcoma (LMS) is a malignant tumor showing smooth muscle differentiation. LMS tumors demonstrate substantial genomic instability that results in relatively high levels of DNA copy number changes. This portion of the webinar will show a workflow for the detection of CNVs in DNA extracted from FFPE samples, as well as demonstrate how copy number profiling may reveal intra- and inter-tumor heterogeneity in LMS and may allow for detection of tumor-matched CNVs in plasma specimens.
For specific subsets of melanocytic proliferations, there exist conflicting and/or ambiguous features that preclude a definitive consensus diagnosis on histologic ground. The morphologic limitations in the diagnosis of these histologically borderline melanocytic tumors lead to both under and over diagnosis of melanoma. This portion of the webinar will discuss how whole genome studies have identified distinct oncogenic aberrations in melanoma and demonstrate the utility of whole-genome single nucleotide polymorphism microarrays (SNPM) in the evaluation of melanoma samples.
During the webinar, the speakers will:
- Discuss the importance of copy number analysis in LMS and melanoma and its relevance for identifying biomarkers in cancers
- Provide their own data on copy number changes found in LMS and melanoma and how these analyses have informed their work
- Highlight the technologies they use to identify relevant and informative copy number changes in LMS and melanoma
Ravindra Kolhe, MD, PHD
Associate Professor, Pathology; Associate Director, Residency Program; Medical Director,
Cytogenetics Laboratory AUMC
Joanna Przybyl, PhD
Senior Research Scientist,
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For Research Use only. Not for use in diagnostic procedures.