Sall4 Expression in Patients With Myelodysplastic Syndrome and Its Correlation With Survival and Leukemic Transformation
Year: 2026
Type: article
Study design: Observational Study
Abstract: Background Myelodysplastic syndrome (MDS) is a heterogeneous group characterized by refractory cytopenias and ineffective hematopoiesis due to a clonal disorder in a multipotent hematopoietic stem cell (HSC). According to the WHO, patients are classified into early and advanced stages, mainly by blast count. About 30% of patients with MDS have a leukemic transformation. Several indicators of disease progression such as blast count and karyotype are currently used by the IPSS-R as a prognostic predictor. However, there is no available in clinical practice a molecular biomarker that can be followed up to predict in a personalized way the risk of leukemic evolution so that target-molecular therapeutic measures can be effective. Recent studieshave shown an increased expression of SALL4 in acute myeloid leukemia (AML), especially in patients with CD34+ cells (CD34 is a marker for identifying humanHSCs). In MDS patients, during the leukemic transformation is observed a clonal proliferation of CD34+ cells. SALL4 is one of the significant factors required for the enhancement and maintenance of HSC/HPCs. The aim of this study was to evaluate theexpression of SALL4 in bone marrow of patients with MDS and its impact on the stages of the disease according to the WHO classification, on the survival of these patients andon the risk of leukemic evolution. Methods The percentage of SALL4 cells in all nucleated cell was assessed by 10 fields at high-power field (HPF) by the immunohistochemical method in 36 patients with primary MDS. The clinical data was recovered from medical records. Morphological characteristics were analyzed through a review of bone marrow biopsies and myelogram slides. Cytogenetic analysis was performed by GTG banding and fluorescence in situ hybridization (FISH) from bone marrow cells. Statistical analysis was carried out using R software. A p value < 0.05 was considered statistically significant. Survival curves were done using the Kaplan-Meier method. Results and Discussion: The patients were classified according to WHO ininitial stages: MDS-SLD (11 patients), MDS-MLD (8 patients), MDS-RS (1 patients); advanced stages: MDS-EB-1 (7 patients), MDS-EB-2 (6 patients) and AML secondary from MDS (3 patients). Chromosomal abnormalities were detected in all patients with SALL4 expression and in 18 patients (60%) without SALL4 expression. SALL4 expression was observed in 6 patients with advanced disease. No expression of SALL4 was observed in patients with early MDS (p = 0.004). Patients with SALL4 expressionhad lower survival (p = 0.0014). All patients with SALL4 expression had leukemic evolution (p = 0.02). Conclusion Our study suggests that SALL4 is a marker of poor prognosis for patients with MDS and may be used as an indicator of leukemic progression. Furthermore, it is a potential target for molecular-targeted drugs in MDS.
Institution: Instituto Nacional de Câncer - INCA
Language: English
Subfield: Hematology
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W7223132237