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Background <p>The prognostic significance of NOTCH1 mutations in T-cell acute lymphoblastic leukemia (T-ALL) remains uncertain. This study evaluates their impact on key clinical outcomes.</p> Methods <p>A systematic search of the Cochrane Library, PubMed, and CINAHL identified eleven peer-reviewed studies encompassing 2,039 patients. Data were independently extracted by two reviewers and analyzed using RevMan 5.4.1.</p> Results <p>NOTCH1 mutations were associated with an approximately 22% improvement in event-free survival (EFS) across ten studies (pooled relative risk 0.63, 95% CI: 0.51–0.78), with corresponding EFS rates of 68.8% in NOTCH1-mutated cases versus 53.8% in wild-type cases. Although the improvement in prednisolone response (PR) across three studies was not statistically significant (pooled OR 1.41, 95% CI: 0.44–4.56; <i>p</i> = 0<i>.</i>56), complete remission (CR) rates in three studies were markedly higher in the NOTCH1-mutant group (pooled OR 8.53, 95% CI: 0.86–85.09). Overall survival (OS), evaluated in three studies, tended to be improved in patients with NOTCH1 mutations; however, substantial inter-study heterogeneity precluded definitive conclusions.</p> Conclusions <p>These findings support incorporating NOTCH1 mutation status into clinical prognostication and treatment planning for T-ALL, potentially facilitating more personalized therapeutic strategies.</p>

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NOTCH1 mutation status as a prognostic biomarker in T-cell acute lymphoblastic leukemia: a systematic review and meta-analysis

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年11月25日

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  • Hissa Al Kuwari,
  • Aisha Al Khinji,
  • Deema Al-Hamed,
  • Abdullatif Al Hor,
  • Dhafer Malouche,
  • Javeed Iqbal

摘要

Background

The prognostic significance of NOTCH1 mutations in T-cell acute lymphoblastic leukemia (T-ALL) remains uncertain. This study evaluates their impact on key clinical outcomes.

Methods

A systematic search of the Cochrane Library, PubMed, and CINAHL identified eleven peer-reviewed studies encompassing 2,039 patients. Data were independently extracted by two reviewers and analyzed using RevMan 5.4.1.

Results

NOTCH1 mutations were associated with an approximately 22% improvement in event-free survival (EFS) across ten studies (pooled relative risk 0.63, 95% CI: 0.51–0.78), with corresponding EFS rates of 68.8% in NOTCH1-mutated cases versus 53.8% in wild-type cases. Although the improvement in prednisolone response (PR) across three studies was not statistically significant (pooled OR 1.41, 95% CI: 0.44–4.56; p = 0.56), complete remission (CR) rates in three studies were markedly higher in the NOTCH1-mutant group (pooled OR 8.53, 95% CI: 0.86–85.09). Overall survival (OS), evaluated in three studies, tended to be improved in patients with NOTCH1 mutations; however, substantial inter-study heterogeneity precluded definitive conclusions.

Conclusions

These findings support incorporating NOTCH1 mutation status into clinical prognostication and treatment planning for T-ALL, potentially facilitating more personalized therapeutic strategies.