Genetic discovery could revolutionize blood cancer treatment!

Genetic discovery could revolutionize blood cancer treatment!

Researchers at Ulm University Hospital have discovered a groundbreaking mechanism that influences the progression of chronic lymphatic leukemia (CLL). Loud uni-ulm.de it is a mutation in the non-coding region of the NOTCH1 gene. This discovery could serve as a crucial biomarker for early treatment.

The results, published in the journal Blood, show that CLL, the most common form of blood cancer, primarily affects people over 50. In this disease, B lymphocytes multiply and displace healthy immune cells. The progression of CLL is often slow at first, but some patients develop symptoms quickly, requiring earlier and more aggressive treatment.

The impact of the NOTCH1 mutation

The mutation examined in the Ulm study is associated with poorer chances of survival. Mutations in the NOTCH1 gene are known for their role in CLL, particularly as they are associated with poor treatment outcomes. NOTCH1 is the most frequently mutated gene in CLL and influencing factors such as the expression of CD38 and ZAP-70 as well as chromosomal abnormalities are crucial for the prognosis. pmc.ncbi.nlm.nih.gov reported that these mutations occur more frequently, particularly in the advanced stages of the disease.

The newly discovered mutation in the non-coding region results in an altered RNA and protein known as NOTCH1-152. This protein blocks the breakdown of the normal NOTCH1 protein and promotes cancer growth. In patients with this particular mutation, it is recommended to closely monitor the progression of the disease and use NOTCH1-152 as a biomarker for the initiation of therapy.

Research has shown that targeted chemotherapy should be delayed as much as possible to avoid the risk of an aggressive form, the so-called Richter transformation. These recommendations are particularly important because they not only affect patients' life expectancy, but can also improve quality of life during treatment.

The role of molecular diagnostics

The results of this study underline the importance of molecular diagnostics and biomarkers in cancer research. The Cancer Information Service highlights that molecular diagnostics are increasingly being integrated into clinical practice. This also includes the use of genetic tests to identify mutations that may affect the course of the disease and its treatment.

In addition, future focus will be on the development of targeted therapies that target disorders in the NOTCH1 signaling pathway. Further studies are necessary to further improve therapeutic options and develop new interventions that meet the specific needs of CLL patients.

The Ulm study is a step in the right direction and shows that not only the coding regions of the genome, but also the non-coding regions can play a fundamental role in the progression of the disease. The findings could help advance personalized medicine in the treatment of chronic lymphatic leukemia.