Kit for detecting FGFR2 (Fibroblast Growth Factor Receptor 2) gene fusion mutation in bile duct cancer

By developing a kit for detecting fusion mutations of FGFR2 gene in cholangiocarcinoma, the problem of limited detection targets is solved using digital PCR and universal linker design, and high sensitivity and high accuracy detection of multiple fusion genes is achieved.

CN119710001AActive Publication Date: 2025-03-28SHANGHAI LANWEI MEDICAL LAB CO LTD
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Patent Information

Application Number
CN202411747094.9
Authority / Receiving Office
CN · China
Patent Type
Applications(China)
Current Assignee / Owner
Filing Date
2024-11-29
Publication Date
2025-03-28
Estimated Expiration
2044-11-29

AI Technical Summary

Technical Problem

Current conventional methods for detecting fusion genes using digital PCR can only detect known fusions and have limited detection targets.

Method used

A kit for detecting fusion mutations of FGFR2 gene in cholangiocarcinoma was developed. By combining a reverse transcription reagent and PCR expression reagent, a universal linker method based on digital PCR was designed to detect all fusions at one time at which the breakpoint is 3' end of exon FGFR217 was used.

Benefits of technology

High sensitivity and high accuracy detection of FGFR2 gene fusion mutations in cholangiocarcinoma is achieved, and about 150 fusion genes can be detected simultaneously, solving the problem of limited detection targets.

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Abstract

The invention discloses a kit for detecting FGFR2 (Fibroblast Growth Factor Receptor 2) gene fusion mutation in bile duct cancer, and develops a design method of a universal joint based on digital PCR (Polymerase Chain Reaction) by utilizing the characteristic that most breakpoints of FGFR2-driven fusion genes are positioned at the 3'end of an FGFR217 exon, and all fusion of which the breakpoints are the 3 'end of the FGFR217 exon can be detected at one time. In addition, a tail sequence Tail is specially designed for a fusion specific primer, and the purpose of inhibiting FGFR2WT cDNA amplification is achieved through complementation of the tail sequence Tail and a sequence, close to a breakpoint, of FGFR2WT exon18, so that the amplification efficiency of FGFR2fusion is greatly improved. The kit is convenient to operate, and has the characteristics of high sensitivity, high accuracy, low cost and the like.
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