WHOLE GENOME AMPLIFICATION OF SINGLE CELLS FROM CLINICAL PERIPHERAL-BLOOD SMEARS

Molecular analysis of clinical samples has been hampered by the lack o f fresh or frozen specimens and the presence of contaminating backgrou nd cells within samples obscuring the molecular analysis of the pathol ogical cells of interest. Routine cytology specimens are a ubiquitous and abundant, yet largely untapped, source of clinical samples for mol ecular analysis. Morphologically defined single cells from peripheral blood smears can be microdissected from contaminating background cells and their whole genome amplified by primer extension preamplification , followed by polymerase chain reaction analysis of the specific DNA o f interest. Thus, molecular information can be traced back to the cell of origin in these clinical specimens. This should allow studies on c lonality; loss of heterozygosity, mutation, or amplification of multip le loci from one single cell in haematological smears and possibly oth er clinical cytology specimens.