Introduction: Chronic lymphocytic leukemia (CLL) is the most prevalent form of leukemia. Although the average five-year survival rate is relatively high, disease progression varies widely among patients and is influenced by numerous clinical, cytological, histopathological, and genetic factors. This retrospective study aimed to evaluate both clinical and molecularbiological parameters in a comprehensive, well-documented cohort of CLL patients treated at the Division of Hematology, Medical University of Graz. Materials and Methods: Materials and methods: Clinical data such as the number of affected lymph node regions or the occurrence of Richter transformation (RT) were recorded. In addition, genetic changes were examined, including deletions of 17p and 11q, trisomy 21, and the mutation status of the immunoglobulin heavy chain variable gene (IgHV). The evaluation included a total of 124 patients, all of whom already had lymph node infiltration at the time of diagnosis. Results: Among the 124 patients, 88 required treatment with either immunochemotherapy or targeted agents, such as Ibrutinib or Venetoclax, and 24 developed RT during the course of their disease. A higher number of affected lymph node regions (>2) at diagnosis, as well as subsequent development of RT, were associated with a shorter time to treatment initiation. Furthermore, unmutated IGHV genes, the co-occurrence of del17p and del11q, and the presence of RT were all linked to reduced overall survival. Patients who developed RT at any time during the disease showed >2 affected lymph node regions and a del17p mutation more frequently compared to those without RT. Additional analysis revealed that neutropenia and infections occurred at similar rates (~50%) in patients treated with immunochemotherapy or targeted therapies. Cardiac adverse events were observed in 8,9% of patients receiving Ibrutinib. Conclusion: Our findings suggest that specific clinical and genetic parameters—particularly the number of involved lymph node regions and del17p status—have a substantial impact on disease progression, Richter transformation, and overall survival in CLL. The integration of these factors may facilitate the development of refined risk stratification models for CLL management.
Setting clinical parameters in association to pathogenesis and prognosis of chronic lymphatic leukemia
Schubert, F. J. (Author). 2026
Student thesis: Diploma thesis