Beltinger C P, Klimek F, Debatin K M
Universitäts-Kinderklinik, Deutsches Krebsforschungszentrum (German Cancer Research Center), Heidelberg, Germany.
Mol Pathol. 1997 Oct;50(5):272-5. doi: 10.1136/mp.50.5.272.
Molecular analysis of clinical samples has been hampered by the lack of fresh or frozen specimens and the presence of contaminating background cells within samples obscuring the molecular analysis of the pathological cells of interest. Routine cytology specimens are a ubiquitous and abundant, yet largely untapped, source of clinical samples for molecular 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 of interest. Thus, molecular information can be traced back to the cell of origin in these clinical specimens. This should allow studies on clonality, loss of heterozygosity, mutation, or amplification of multiple loci from one single cell in haematological smears and possibly other clinical cytology specimens.
临床样本的分子分析一直受到新鲜或冷冻样本匮乏以及样本中存在污染背景细胞的阻碍，这些背景细胞会干扰对感兴趣的病理细胞的分子分析。常规细胞学标本是分子分析临床样本的一个普遍存在且丰富但大多未被开发利用的来源。外周血涂片形态学定义的单个细胞可从污染背景细胞中显微切割出来，并通过引物延伸预扩增对其全基因组进行扩增，随后对感兴趣的特定DNA进行聚合酶链反应分析。因此，分子信息可以追溯到这些临床标本中的起源细胞。这应该能够对血液涂片以及可能的其他临床细胞学标本中单个细胞的多个位点的克隆性、杂合性缺失、突变或扩增进行研究。
