METHOD OF EVALUATING DETECTION OF ALK GENE TRANSLOCATIONS IN PARAFFINIZED TUMOUR SAMPLES USING RNA-SEQUENCING Russian patent published in 2024 - IPC G01N33/574 

FIELD: medicine; oncology.

SUBSTANCE: claimed invention relates to personalized medicine for cancer, namely to a system for detecting chimeric gene products in all types of tumour samples, based on the analysis of RNA-sequencing data, namely the detection of imbalances in gene exon coverage. The invention describes a method that makes it possible to detect expression products of chimeric ALK genes in a wide range of pathological tissue samples from patients based on RNA expression data. The method is based on analysing the expression pattern of exons of the ALK gene and searching for an imbalance in exon coverage, indicating the presence of a structural rearrangement of the ALK gene. The approach is based on the analysis of full transcriptomic data, which potentially makes it possible to detect chimeric products of other genes expressed in the sample. In addition, this method can be automated, which prevents potential errors associated with manual calculations and allows for the inclusion of patient-specific structural rearrangements in hundreds and thousands of expressed genes. The use of this method will make it possible to effectively and accurately detect chimeric ALK transcripts in all types of tumour samples, including formalin-fixed paraffinized samples in which the degree of nucleic acid degradation is increased.

EFFECT: use of the presented approach for rapid and efficient detection of potentially all clinically significant chimeric ALK genes will increase the efficiency of selection of anticancer therapy.

1 cl, 2 dwg