Integrating Genomic and Clinical Data in AML: Real-World Application of the Sanger Multistage Model

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Authors: Andrea Duminuco, Silvia Rita Vitale, Antonella Nardo, P. Harrington, Stefania Stella, Michele Massimino, Cristina Tomarchio, Elisa Mauro, Marina Silvia Parisi, Cinzia Maugeri, F Di Raimondo, Giuseppe A. Palumbo
+2 more Livia Manzella, Calogero Vetro
Cited by: 1
References: 37

Abstract

Background: Acute myeloid leukemia (AML) is genomically heterogeneous, and translating baseline molecular data into individualized prognosis remains difficult. We assessed real-world outcomes and externally validated the Sanger Institute AML multistage prognostic model. Methods: This single-center, retrospective study included 73 AML patients who underwent targeted NGS profiling. In intensively treated patients, the published, validated Sanger AML multistage prognostic model was compared with observed 12- and 36-month clinical outcomes using quadratic-weighted Cohen’s kappa. Results: Median age was 61 years, and median overall survival was 13 months, with the most significant survival differences driven by treatment intensity. TP53 mutations occurred in 7 patients (9.6%) and were linked to primary refractoriness and extremely poor survival. TP53 was the only independent predictor of death (HR 8.07, 95% CI 2.23–29.13; p = 0.0014). Model concordance was moderate at 12 months (29 evaluable cases; weighted κ = 0.52; alive/dead κ = 0.52) and fair-to-moderate at 36 months (23 cases; weighted κ = 0.46). The tool performed best for predicted death without remission, while most discrepancies involved patients expected to remain in first remission who later relapsed and died. Conclusions: TP53 disruption dominates prognosis in real-world AML. The multistage tool supports early high-risk identification but shows limited long-term calibration, motivating the development of dynamic models integrating contemporary therapies and longitudinal min/serial NGS data.

Fields of Study & Subjects

Acute Myeloid Leukemia Research Chronic Myeloid Leukemia Treatments Acute Lymphoblastic Leukemia research

Publication details

Journal / source
Genes
Publisher
MDPI AG
Volume
17
Issue
2
Pages
218–218
Publication date
10 February 2026
Language
EN