Clonal origin and expansions in neoplasms: biologic and technical aspects must be considered together
Microsatellite-based clonality assays include the analysis of X-chromosome inactivation (XCI) and loss of heterozygosity (LOH) of tumor suppressor genes, and have been rarely applied to differentiate clonal origin from clonal expansion in neoplasms. The key elements for that distinction are: tumor natural history with particular attention to the relative timing between test conversion and clonal expansion, the lesion cell kinetic, and sample conditions. Studies based on allele ratio of genes involved in the transformation pathway must validate technique conditions to obtain reliable quantification methods able to detect clonal growths.
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