Histological sections are made of the tumour tissue embedded in paraffin.

The pathologist marks the tumour areas on a haematoxylin-eosin-stained section in order to minimise the normal tissue contained in the section during the subsequent tumour DNA extraction. Depending on the size of the tumour area, one to three sections are deparaffinised, the marking is transferred to the respective section and the DNA is isolated from the dissected tumour tissue.

Depending on the subsequent analysis, the DNA extract is freed from accompanying proteins, salts etc. and the DNA concentration is determined photometrically.

To detect a mutation in a specific gene, the gene section of interest is amplified from the DNA using a polymerase chain reaction (PCR). In a subsequent sequencing reaction, the base sequence of the PCR product is determined and an existing mutation can be recognised by comparison with the known wild-type sequence.

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qm.pathologie@uniklinik-ulm.de