Allogeneic haematopoietic stem cell transplantation (allo-hSCT) is one of the most important therapeutic options for patients with both malignant and non-malignant life-threatening rare disorders. Assessment of chimerism following allo-hSCT has been established as an indispensable tool for the clinical management of transplant recipients. The number of allo-hSCT among CML patients is decreasing due to tyrosine-kinase-inhibitor treatment. However, allo-hSCT in adult and paediatric patients with AML, ALL, and different non-malignant diseases is still increasing. For sex-independent patient chimerism monitoring, PCR-based short tandem repeat (PCR-STR) DNA markers with subsequent fragment analysis (‘FA’) and SYBR Green-based real-time PCR (SNPs or NPs markers of DNA) (‘RQ PCR’) were used. Specific features of chimerism assessment in non-malignant (n = 74) and malignant (n = 169) diseases were monitored by ‘FA’. Complete and mixed chimerism was monitored also by SYBR Green-based real-time PCR method (‘RQ PCR’) (n = 188). By comparing the results of two chimerism monitoring methods (‘FA’ and ‘RQ PCR’) (n = 65), the higher sensitivity for the detection of the autologous DNA markers was observed by ‘RQ PCR’ (<1%) than ‘FA’ (1–5%). The lower detection limit of mixed chimerism could reveal an eventual relapse earlier. But the quantification of donor’s DNA markers is more precise estimated by the FA.
Part of the book: Rare Diseases