Combinatorial genes for second-generation sequencing of multiple myeloma and its application and sequencing methods based thereon

Abstract

The invention discloses a combined gene for second-generation sequencing of multiple myeloma, its application and a sequencing method based on it, including 92 gene combinations, gene detection regions, sequencing process and analysis of sequencing results. The new gene sequencing combination provided by the present invention includes MM-related pathogenic genes, drug resistance genes, bone disease genes and other high-frequency genes. It explores the occurrence and development of the disease horizontally, provides potential therapeutic targets for drug-resistant patients, and provides an important reference for clinical treatment decisions, so that MM can finally achieve individualized and precise treatment.

Description

technical field [0001] The invention belongs to the field of clinical application of second-generation gene sequencing technology, and in particular relates to a combined gene for second-generation sequencing of multiple myeloma, its application and a sequencing method based on it. Background technique [0002] Multiple myeloma (Multiple Myeloma, MM) is a malignant tumor derived from plasma cells, and its incidence rate ranks second among hematological malignancies. Although the application of proteasome inhibitors (such as bortezomib, etc.) and new immunomodulators (such as lenalidomide, etc.) have greatly improved the survival of patients, it is still an incurable disease. Previous studies have found that the occurrence and development of MM are related to the abnormal expression of multiple oncogenes and proto-oncogenes, including Bcl-2, C-myc, RAS, P53, RB1, etc., but so far, no gene has been found to be involved in all MM All patients had abnormalities, which suggested...

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Problems solved by technology

[0004] Reported research institutions have set up different gene combinations such as GEP70, SKY92, UAMS70, UAMS80, IFM15, and HM19, etc., but different research NGS detection methods, included genes, and detection populations are quite different, resulting in large bias in research results. At the same time, because most of the tests do not perform plasma cell sorting, the detection rate of mutations is low, which limits the promotion of clinical applications.

Compared with the currently applied MM-related target gene detection patent (CN 111575375 A), the detection rate of MM high-frequency mutation gene KRAS / NRAS / BRAF is only 27.78%, and the detection rate of multiple genes is 0, which is inconsistent with literature reports

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