Novel method for detecting abnormal cell having gene mutation

The novel PCR-based method with next-generation sequencing for detecting CEBPA gene mutations in acute myeloid leukemia patients addresses the limitations of existing methods, providing more accurate lesion detection and recurrence prediction for personalized treatment strategies.

WO2024262348A1PCT designated stage expired Publication Date: 2024-12-26OSAKA UNIVERSITY
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Patent Information

Application Number
PCT/JP2024/020895
Authority / Receiving Office
WO · WO
Patent Type
Applications
Current Assignee / Owner
Priority Date
2023-06-20
Filing Date
2024-06-07
Publication Date
2024-12-26

AI Technical Summary

Technical Problem

Current methods for detecting minimal residual disease in acute myeloid leukemia, particularly in CEBPA-AML patients, suffer from low sensitivity and specificity, leading to inaccurate prediction of recurrence and suboptimal treatment decisions.

Method used

A novel method involving PCR amplification of specific genomic DNA regions in peripheral blood mononuclear cells using primers without additional sequences, followed by next-generation sequencing, to detect base mutations and identify lesions with higher accuracy.

Benefits of technology

This approach enhances the detection of acute myeloid leukemia lesions and minimal residual disease, improving prediction of recurrence and guiding treatment decisions such as hematopoietic stem cell transplantation.

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Abstract

Provided is a method for detecting an abnormal cell having a gene mutation, the method comprising: a step for amplifying a region corresponding to a region comprising a nucleotide sequence lying between a nucleotide located at position-1,316 and a nucleotide located at position-1,663 in SEQ ID NO:1 and / or a region corresponding to a region comprising a nucleotide sequence lying between a nucleotide located at position-1,931 and a nucleotide located at position-2,642 in SEQ ID NO: 1 to produce an amplification product, wherein SEQ ID NO:1 is included in genomic DNA derived from a peripheral blood mononuclear cell of the patient; and a step for determining the nucleotide sequence for the amplification product and detecting a nucleotide mutation. In the method, the presence of the lesion is indicated when the nucleotide mutation is detected, and the amplification is performed by a PCR using a primer having no additional sequence.
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Citation Information

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