Fathelrahman M. Gameel is a full professor at Sudan University of Science and Technology in Khartoum, specializing in hematology, blood transfusion, and molecular hematology. He works as a medical laboratory hematology consultant and is a member of the American Society of Clinical Oncology (ASCO).
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Abstract 1
Molecular diagnostics in hematologic malignancies: From Genomic markers to clinical decision-making
Advances in molecular diagnostics have transformed the clinical landscape of hematologic malignancies, enabling precise classification, prognostication, and therapy selection. This presentation provides an integrated overview of current and emerging molecular markers in leukemias, lymphomas, and myeloproliferative neoplasms (MPNs). The talk begins with a review of high-impact driver mutations, including BCR-ABL1, JAK2 V617F, CALR, MPL, and recurrent mutations in RUNX1, TP53, and epigenetic regulators such as DNMT3A, TET2, and ASXL1. Emphasis is placed on how these biomarkers refine diagnosis according to updated WHO and ICC classifications.
The second component explores the clinical application of next-generation sequencing (NGS) panels, highlighting their role in risk stratification, predicting targeted therapy response, and monitoring measurable residual disease (MRD). Specific case examples—including NGS-detected RUNX1 mutations in benzene-exposed CML populations and TP53-mutant acute leukemias—illustrate the real-world clinical impact of molecular testing.
The final section addresses laboratory implementation, covering assay validation, quality assurance, reporting standards, and challenges in interpreting variants of uncertain significance (VUS). Practical recommendations are offered for laboratories in low- and middle-income settings, including cost-effective approaches to mutation screening and strategies to maintain regulatory compliance.
This talk equips laboratory scientists and clinicians with essential updates in molecular hematology and emphasizes the importance of integrating molecular data into patient-centered hematology care.
Abstract 2
Genetic determinants of hereditary blood disorders: Advances in diagnostics and implications for screening programs
Hereditary hematologic disorders remain a major public health challenge across many regions, particularly in populations with high prevalence of hemoglobinopathies and inherited coagulation disorders. This presentation focuses on the molecular basis, diagnostic approaches, and clinical implications of common and emerging genetic defects associated with diseases such as sickle cell disease, thalassemias, von Willebrand disease, and inherited platelet function disorders.
The session reviews the spectrum of pathogenic variants—including single nucleotide variants, small insertions/deletions, copy-number variations, and promoter/regulatory mutations—and how these contribute to disease phenotype and clinical variability. Special emphasis is placed on molecular findings from Middle Eastern and African populations, including novel variants identified in VWF exon 26 and their potential impact on bleeding severity.
Practical evaluation of diagnostic tools is provided: PCR-based assays, Sanger sequencing, MLPA, NGS for comprehensive variant detection, and the growing role of RNA-based testing. The talk also addresses challenges related to laboratory workflow, quality control, and genetic counseling.
Finally, the presentation discusses the integration of molecular screening into national prevention programs, including newborn screening, premarital testing, and donor screening in transfusion services. Future directions include expanded carrier screening and the potential role of gene-editing technologies."
Abstract 3
Molecular mechanisms of therapy resistance in hematologic cancers: Biomarkers for prediction and monitoring
Therapy resistance remains a significant barrier to achieving durable remissions in hematologic cancers. This presentation explores the molecular pathways that drive resistance to chemotherapy, targeted therapy, and immunotherapy across leukemias and lymphomas.
The talk begins with an overview of primary and acquired resistance mechanisms, including mutations in ABL1, FLT3, IDH1/2, RAS pathway components, and TP53, as well as epigenetic dysregulation affecting transcription and chromatin remodeling. Examples include TKI resistance in CML due to kinase-domain mutations, FLT3-ITD persistence in AML, and clonal evolution during therapy.
Attention is given to cutting-edge diagnostic technologies—NGS-based MRD assessment, digital PCR, and single-cell sequencing—to detect emerging resistant clones earlier than conventional methods. Clinical case studies illustrate how molecular surveillance can predict relapse and guide therapeutic decisions.
The presentation concludes with future-oriented strategies such as combination targeted therapy, pathway-specific inhibitors, and personalized molecular monitoring algorithms aiming to improve patient outcomes and reduce relapse rates."