Ricardo García-Muñoz, Jone Alberdi-Ballina, Giovanna Farfan-Quiroga, Eloy F Robles, María José Larráyoz, María José Calasanz, José Ángel Martínez-Climent, Carlos Panizo, Javier Larreina-Pérez, Sofía Rincón-López, Johelys Atencio-Matos, Andrea Campeny-Najara, Ada Esteban-Figuerola, Montserrat Hernandez-Perez, Puy Garrastachu-Zumaran, María Velasco-Ruiz, Estefanía Ruiz de Gaona, Jesús Feliu
{"title":"SOX4 in chronic lymphocytic leukaemia: the forgotten transcription factor.","authors":"Ricardo García-Muñoz, Jone Alberdi-Ballina, Giovanna Farfan-Quiroga, Eloy F Robles, María José Larráyoz, María José Calasanz, José Ángel Martínez-Climent, Carlos Panizo, Javier Larreina-Pérez, Sofía Rincón-López, Johelys Atencio-Matos, Andrea Campeny-Najara, Ada Esteban-Figuerola, Montserrat Hernandez-Perez, Puy Garrastachu-Zumaran, María Velasco-Ruiz, Estefanía Ruiz de Gaona, Jesús Feliu","doi":"10.1007/s44313-025-00086-2","DOIUrl":null,"url":null,"abstract":"<p><strong>Purpose: </strong>SRY-box transcription factor 4 (SOX4) is a transcription factor involved in early B cell development and has been implicated in various malignancies; however, its role in chronic lymphocytic leukemia (CLL) remains poorly understood. This study investigated the correlation between SOX4 expression and prognostic factors in CLL to determine its relevance to disease progression and clinical outcomes.</p><p><strong>Methods: </strong>A cohort of patients with CLL with a known immunoglobulin heavy chain variable region (IGHV) mutational status was analyzed for SOX4 expression using quantitative polymerase chain reaction (qPCR). Correlations between SOX4 levels and established prognostic markers including IGHV mutational status, cytogenetic abnormalities, and clinical outcomes were evaluated. Statistical analyses were performed to assess the association between SOX4 expression and patient survival.</p><p><strong>Results: </strong>Higher SOX4 expression was observed to be significantly associated with unmutated CLL (U-CLL) and adverse prognostic markers, including del(17)(p13). In contrast, lower SOX4 levels were observed in mutated CLL (M-CLL), and cytogenetic abnormalities were noted to be linked to favorable outcomes [del(13)(q21)]. Survival analysis indicated that elevated SOX4 expression was correlated with poor prognosis.</p><p><strong>Conclusion: </strong>SOX4 expression stratifies CLL subtypes and aligns with established prognostic markers. High SOX4 levels are associated with aggressive disease phenotypes, whereas low SOX4 expression is associated with better clinical outcomes. These findings indicate that SOX4 may serve as a potential biomarker for disease classification and risk stratification. Further studies are required to elucidate the biological significance of this phenomenon.</p>","PeriodicalId":46224,"journal":{"name":"Blood Research","volume":"60 1","pages":"38"},"PeriodicalIF":2.3000,"publicationDate":"2025-07-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12227397/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Blood Research","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1007/s44313-025-00086-2","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"HEMATOLOGY","Score":null,"Total":0}
引用次数: 0
Abstract
Purpose: SRY-box transcription factor 4 (SOX4) is a transcription factor involved in early B cell development and has been implicated in various malignancies; however, its role in chronic lymphocytic leukemia (CLL) remains poorly understood. This study investigated the correlation between SOX4 expression and prognostic factors in CLL to determine its relevance to disease progression and clinical outcomes.
Methods: A cohort of patients with CLL with a known immunoglobulin heavy chain variable region (IGHV) mutational status was analyzed for SOX4 expression using quantitative polymerase chain reaction (qPCR). Correlations between SOX4 levels and established prognostic markers including IGHV mutational status, cytogenetic abnormalities, and clinical outcomes were evaluated. Statistical analyses were performed to assess the association between SOX4 expression and patient survival.
Results: Higher SOX4 expression was observed to be significantly associated with unmutated CLL (U-CLL) and adverse prognostic markers, including del(17)(p13). In contrast, lower SOX4 levels were observed in mutated CLL (M-CLL), and cytogenetic abnormalities were noted to be linked to favorable outcomes [del(13)(q21)]. Survival analysis indicated that elevated SOX4 expression was correlated with poor prognosis.
Conclusion: SOX4 expression stratifies CLL subtypes and aligns with established prognostic markers. High SOX4 levels are associated with aggressive disease phenotypes, whereas low SOX4 expression is associated with better clinical outcomes. These findings indicate that SOX4 may serve as a potential biomarker for disease classification and risk stratification. Further studies are required to elucidate the biological significance of this phenomenon.