[Gene Mutation in Acute Lymphoblastic Leukemia by DNA Sequencing].

Area of Science:

• Hematology
• Oncology
• Molecular Biology

Background:

• Acute lymphoblastic leukemia (ALL) is a heterogeneous hematologic malignancy.
• Understanding the genetic landscape of adult ALL is crucial for targeted therapies and prognostic assessments.

Purpose of the Study:

• To investigate the prevalence and characteristics of gene mutations in adult ALL.
• To determine the clinical significance and prognostic value of these gene mutations.

Main Methods:

• DNA sequencing was performed on 134 primary adult ALL patients to analyze 16 types of gene mutations.
• Clinical data and gene mutation status were statistically analyzed.

Main Results:

• Gene mutations were detected in 23.13% of adult ALL cases, with a significantly higher incidence in T-cell ALL (57.89%) compared to B-cell ALL (16.67%).
• IL7R and NOTCH1 were the most frequently mutated genes. NOTCH1 mutations were associated with a significantly lower 1-year survival rate (50.0%) compared to non-mutation cases (65.8%).

Conclusions:

• Multiple gene mutations can occur in adult ALL.
• IL7R and NOTCH1 are common mutations, and NOTCH1 mutation may indicate a poor prognosis.
• Gene mutation detection aids in understanding ALL pathogenesis and evaluating prognosis in adult patients.