Application of cytogenetic studies to assess relapse in patients after allogeneic bone marrow transplantation
DOI:
https://doi.org/10.57125/FEM.2024.06.30.04Keywords:
molecular diagnostics, genetic monitoring, chromosomal aberrations, biomarkers of relapse, minimal residual diseaseAbstract
Cytogenetics, the study of chromosomes and their structure, plays a vital role in both diagnosing and managing hematological diseases.
Aims: This research aimed to analyse trends, study characteristics, and demographics in cytogenetic studies assessing the relapse after allogeneic bone marrow transplantation. It explored the evolving role of cytogenetics in managing relapse, their impact on treatment outcomes, and their contribution to treatment planning. The study also identified research gaps and future directions.
Study design: A narrative literature review
Place and Duration of Study: From 2019 to 2024
Methodology: A comprehensive PubMed search was conducted for this narrative literature review. The search terms encompassed a blend of keywords (("Cytogenetics" OR cytogenetics OR chromosomal analysis OR karyotyping) AND ("Recurrence" OR recurrence OR relapse OR relapsing) AND ("Transplantation, Homologous" OR "bone marrow transplantation" OR "bone marrow transplant" OR BMT OR "stem cell transplant" OR "hematopoietic stem cell transplantation")), with the intention of pinpointing pertinent research on relapse occurrences and patterns subsequent to transplantation.
Results: The research results highlighted significant advancements and the critical role of cytogenetic monitoring in managing relapse among hematologic malignancy patients. A surge in publications is observed in 2021, indicating rapid technological advancements, particularly in fluorescence in situ hybridisation and comparative genomic hybridisation. The current study findings reflected a diverse global effort, in predicting relapse and informing post-transplant treatment adjustments hence emphasising the effectiveness of cytogenetic techniques and minimal residual disease detection. The patient stratification and relapse management are enhanced as this novel cytogenetic profiling has improved classification and treatment response strategies in acute lymphoblastic leukemia. Nevertheless, challenges persist in effectively managing high-risk subtypes and overcoming resistance mechanisms. This underscores the need for continuous improvement in therapeutic approaches and long-term outcomes in the future.
Conclusion: For monitoring post-allogeneic bone marrow transplantation relapse, and guiding tailored treatments based on genetic profiles, cytogenetic studies are most essential.
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