Identification of the genomic BCR-ABL1 fusion sequence from blood specimen stored on filter paper

Chronic myeloid leukaemia (CML) is characterized by the Philadelphia chromosome resulting in the BCR-ABL1 gene whose mRNA transcript detection is commonly used for diagnosis and monitoring of therapeutic response. However, in collected blood specimen degradation of mRNA has to be considered during storage and transport thus jeopardizing the analysis. We here describe an alternative DNA-based technique applied after long-term blood storage. DNA was isolated from dried blood stains from CML patients stored on filter paper (Guthrie cards) after a median period from diagnosis of 11 years (range: 5-12 years) and analyzed with a two round long-range multiplex PCR (MLR-PCR) to identify the genomic BCR-ABL1 breakpoint. Patient-specific individual BCR-ABL1 fusion sites were successfully detected in 10 out of 13 patients. Dried blood stains represent a valuable resource for genomic DNA analyses. Long term preservation is easily manageable in paper envelopes with the patient's medical files with a minimum of financial costs and efforts. Such the cooperation between laboratories and hospitals separated by long distances is facilitated rendering possible offering specialized genomic analyses to patients with CML virtually everywhere around the world. This technique may also be a valuable approach for diagnostic procedures on a high molecular level in related haematological malignancies.