GENOTYPING AND TREATMENT OF CANCER, IN PARTICULAR CHRONIC LYMPHOCYTIC LEUKEMIA

摘要

The present invention relates to the field of genotyping and treating cancer such as leukemia and lymphoma, especially chronic lymphocytic leukemia (CLL). It is an object of the present invention to provide novel tools and methods for genotyping CLL (and other cancers), in particular for predicting disease progression and informing treatment decisions or for targeted treatment of CLL (and other cancers) based on cancer genotype. Surprisingly, in the course of the present invention, deletions in the N0TCH2 gene were found in cells obtained from blood samples of CLL patients. These deletions lead to the expression of N-terminally truncated, constitutively active N0TCH2 variants. The present invention provides a polynucleotide probe for detecting a region of the human N0TCH2 gene in a cell, the sequence of the region being at least 10 consecutive nucleotides selected from the sequence according to SEQ ID NO: 1, wherein the probe is specific for the region or for its reverse complement, and wherein the probe is bound to a molecular tag. The polynucleotide probe is preferentially used in fluorescence in-situ hybridization (FISH). Moreover, the present invention provides an antibody specific for an N-terminally truncated human Notch2 protein starting with the sequence MVYP or the sequence MAKR.