Prognostic Significance and Treatment Response Associations of Genetic Mutations in Chronic Myelomonocytic Leukemia: A Retrospective Cohort Study

<b>Background:</b> This retrospective cohort study investigates the prognostic significance of genetic mutations in Chronic Myelomonocytic Leukemia (CMML) and their association with treatment responses among patients treated at a single institution, juxtaposed with a statewide dataset fr...

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Main Authors: Jing Di, Leonard N. Yenwongfai, Talal Arshad, Bin Huang, Jaclyn K. McDowell, Eric B. Durbin, Reinhold Munker, Sainan Wei
Format: Article
Language:English
Published: MDPI AG 2024-10-01
Series:Biomedicines
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Online Access:https://www.mdpi.com/2227-9059/12/11/2476
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author Jing Di
Leonard N. Yenwongfai
Talal Arshad
Bin Huang
Jaclyn K. McDowell
Eric B. Durbin
Reinhold Munker
Sainan Wei
author_facet Jing Di
Leonard N. Yenwongfai
Talal Arshad
Bin Huang
Jaclyn K. McDowell
Eric B. Durbin
Reinhold Munker
Sainan Wei
author_sort Jing Di
collection DOAJ
description <b>Background:</b> This retrospective cohort study investigates the prognostic significance of genetic mutations in Chronic Myelomonocytic Leukemia (CMML) and their association with treatment responses among patients treated at a single institution, juxtaposed with a statewide dataset from Kentucky. <b>Methods:</b> The study includes 51 patients diagnosed with CMML under the World Health Organization criteria from January 2005 to December 2023. It examines their genomic profiles and subsequent survival outcomes. The analysis also categorizes patients into CMML-1 and CMML-2 subtypes and assesses survival differences between transformed and non-transformed cases. <b>Results:</b> Mutations in TET2, ASXL1, and SRSF2 were found to significantly influence survival, establishing their roles as critical prognostic markers. Additionally, the cohort from the University of Kentucky exhibited distinct survival patterns compared to the broader Kentucky state population, suggesting that demographic and treatment-related factors could underlie these variances. <b>Conclusions:</b> This research underscores the pivotal role of targeted genetic profiling in deciphering the progression of CMML and refining therapeutic strategies. The findings emphasize the necessity for advanced genetic screening in managing CMML to better understand individual prognoses and optimize treatment efficacy, thereby offering insights that could lead to personalized treatment approaches.
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spelling doaj-art-d344cdd755ee4ac1b5c6990100b50e332025-08-20T01:53:52ZengMDPI AGBiomedicines2227-90592024-10-011211247610.3390/biomedicines12112476Prognostic Significance and Treatment Response Associations of Genetic Mutations in Chronic Myelomonocytic Leukemia: A Retrospective Cohort StudyJing Di0Leonard N. Yenwongfai1Talal Arshad2Bin Huang3Jaclyn K. McDowell4Eric B. Durbin5Reinhold Munker6Sainan Wei7Department of Pathology & Laboratory Medicine, University of Kentucky, Lexington, KY 40536, USADepartment of Pathology & Laboratory Medicine, University of Kentucky, Lexington, KY 40536, USADepartment of Pathology & Laboratory Medicine, University of Kentucky, Lexington, KY 40536, USADivision of Cancer Biostatistics, University of Kentucky, Lexington, KY 40536, USAMarkey Cancer Center, Cancer Research Informatics Shared Resource Facility, University of Kentucky, Lexington, KY 40536, USAKentucky Cancer Registry, Lexington, KY 40504, USADivision of Hematology, Blood and Marrow Transplantation, University of Kentucky, Lexington, KY 40536, USADepartment of Pathology & Laboratory Medicine, University of Kentucky, Lexington, KY 40536, USA<b>Background:</b> This retrospective cohort study investigates the prognostic significance of genetic mutations in Chronic Myelomonocytic Leukemia (CMML) and their association with treatment responses among patients treated at a single institution, juxtaposed with a statewide dataset from Kentucky. <b>Methods:</b> The study includes 51 patients diagnosed with CMML under the World Health Organization criteria from January 2005 to December 2023. It examines their genomic profiles and subsequent survival outcomes. The analysis also categorizes patients into CMML-1 and CMML-2 subtypes and assesses survival differences between transformed and non-transformed cases. <b>Results:</b> Mutations in TET2, ASXL1, and SRSF2 were found to significantly influence survival, establishing their roles as critical prognostic markers. Additionally, the cohort from the University of Kentucky exhibited distinct survival patterns compared to the broader Kentucky state population, suggesting that demographic and treatment-related factors could underlie these variances. <b>Conclusions:</b> This research underscores the pivotal role of targeted genetic profiling in deciphering the progression of CMML and refining therapeutic strategies. The findings emphasize the necessity for advanced genetic screening in managing CMML to better understand individual prognoses and optimize treatment efficacy, thereby offering insights that could lead to personalized treatment approaches.https://www.mdpi.com/2227-9059/12/11/2476chronic myelomonocytic leukemiagenetic profilingprognostic biomarkerssurvival analysis
spellingShingle Jing Di
Leonard N. Yenwongfai
Talal Arshad
Bin Huang
Jaclyn K. McDowell
Eric B. Durbin
Reinhold Munker
Sainan Wei
Prognostic Significance and Treatment Response Associations of Genetic Mutations in Chronic Myelomonocytic Leukemia: A Retrospective Cohort Study
Biomedicines
chronic myelomonocytic leukemia
genetic profiling
prognostic biomarkers
survival analysis
title Prognostic Significance and Treatment Response Associations of Genetic Mutations in Chronic Myelomonocytic Leukemia: A Retrospective Cohort Study
title_full Prognostic Significance and Treatment Response Associations of Genetic Mutations in Chronic Myelomonocytic Leukemia: A Retrospective Cohort Study
title_fullStr Prognostic Significance and Treatment Response Associations of Genetic Mutations in Chronic Myelomonocytic Leukemia: A Retrospective Cohort Study
title_full_unstemmed Prognostic Significance and Treatment Response Associations of Genetic Mutations in Chronic Myelomonocytic Leukemia: A Retrospective Cohort Study
title_short Prognostic Significance and Treatment Response Associations of Genetic Mutations in Chronic Myelomonocytic Leukemia: A Retrospective Cohort Study
title_sort prognostic significance and treatment response associations of genetic mutations in chronic myelomonocytic leukemia a retrospective cohort study
topic chronic myelomonocytic leukemia
genetic profiling
prognostic biomarkers
survival analysis
url https://www.mdpi.com/2227-9059/12/11/2476
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