Every cell within a tumor is not genetically identical and this genetic heterogeneity is thought to underlie tumor progression and resistance to therapeutics. A team of researchers, at the Dana-Farber Cancer Institute, Boston, and Memorial Sloan-Kettering Cancer Center, New York, has now developed methods to quantitatively describe intratumor genetic heterogeneity in primary human tumors.
The team, led by Kornelia Polyak and Franziska Michor, used these techniques to assess heterogeneity in several different types of human breast cancer. A high degree of genetic heterogeneity was detected both within and between distinct tumor cell populations.
Further, in some tumors the degree of genetic heterogeneity was markedly different between the in situ and invasive cancer cell populations. As genetic diversity was associated with clinical variables, the authors suggest that it might provide a clinically useful biomarker for predicting prognosis and response to treatment.
The idea that intratumor genetic heterogeneity might be a useful biomarker of a patient's risk of tumor progression and therapeutic resistance is further discussed by Lauren Merlo and Carlo Maley, at The Wistar Institute, Philadelphia, in an accompanying commentary.
- Park et al. Cellular and genetic diversity in the progression of in situ human breast carcinomas to an invasive phenotype. Journal of Clinical Investigation, 2010; DOI: 10.1172/JCI40724
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