Single cell high throughput scanning for genetic variations to detect minimal residual disease in hematological malignancies

MRD, or Minimal Residual Disease, denotes the lingering presence of a small number of cancer cells in the body following treatment, contributing to the recurrence and progression of the disease. The recurrence of hematologic malignancies can often be attributed to the persistence of MRD. In the realm of precision medicine, the evaluation of MRD in hematologic malignancies has proven instrumental in tailoring individualized treatment programs for patients deemed at high risk of recurrence. Utilizing standardized techniques and robust bioinformatics analyses, it is imperative to pinpoint specific time points in the disease course or follow-up. Various techniques may be employed in this context. Nevertheless, the synthesis of results into a comprehensive laboratory report, encompassing diverse methodologies, is crucial. The ultimate aim is to extract clinically relevant information, enhancing the efficacy of personalized treatment approaches. In the planned thesis, it was aimed to detect the genetic variations of minimal residues in hematological malignancies at the single cell level and to screen and follow them up with high precision. Thus, MRD monitoring, which is extremely important for the course of the disease and patient survival in hematological malignancies, will be integrated into routine clinical practices and faster and more sensitive treatment protocols will be established. Keywords: Minimal residual disease, hematologic malignancies, single cell analysis