Recent Advances in Genetic Studies on Leukemia

A special issue of Cancers (ISSN 2072-6694). This special issue belongs to the section "Molecular Cancer Biology".

Deadline for manuscript submissions: closed (30 March 2025) | Viewed by 3502

Special Issue Editor


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Guest Editor
Department of Regenerative and Precision Medicine and Ionian Area-DiMePReJ, Hematology Section, Policlinico-University of Bari, P.zza G. Cesare, 11, 70124 Bari, Italy
Interests: hematologic neoplasms; cancer genetics; molecular diagnostics; target therapy; precision medicine
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Special Issue Information

Dear Colleagues,

The classification of hematological tumors is periodically updated by collecting discoveries generated from the research studies of pathologists, geneticists, hematologists, and oncologists. Recently, the most current and clinically significant data have been utilized to revise and update the classifications of myeloid malignancies and acute leukemias; these data included the biology of hematologic neoplasms, their management in clinical practice, and results from clinical trials. Due to the crucial role of genetic features in defining a patient’s diagnosis, studying the genetic bases of leukemia heterogeneity ensures that biologic peculiarities and vulnerabilities are explored thoroughly, and this is essential for recognizing more active therapeutic treatments, identifying resistance mechanisms and early response markers, and improving cure possibilities.

Considering the importance of this topic, I am pleased to invite the submission of original research articles and review articles which can broaden our knowledge regarding the genetic basis of hematological pathologies, with a special focus on leukemia.

I look forward to receiving your contributions.

Dr. Nicoletta Coccaro
Guest Editor

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Keywords

  • hematologic neoplasms
  • leukemia
  • cancer genetics
  • precision medicine
  • target therapy

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Published Papers (2 papers)

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Review

23 pages, 651 KiB  
Review
Advancing Leukemia Management Through Liquid Biopsy: Insights into Biomarkers and Clinical Utility
by Cíntia Nogueira Hollanda, Ana Cristina Moura Gualberto, Andréa Barretto Motoyama and Fabio Pittella-Silva
Cancers 2025, 17(9), 1438; https://doi.org/10.3390/cancers17091438 - 25 Apr 2025
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Abstract
Liquid biopsy is classically defined as the detection of biomarkers in bodily fluids. One of these biomarkers can be circulating cell-free DNA (cfDNA) released by healthy or cancer cells during apoptosis. These fragments can be quantified and molecularly characterized by techniques like digital [...] Read more.
Liquid biopsy is classically defined as the detection of biomarkers in bodily fluids. One of these biomarkers can be circulating cell-free DNA (cfDNA) released by healthy or cancer cells during apoptosis. These fragments can be quantified and molecularly characterized by techniques like digital droplet PCR (ddPCR) or next-generation sequencing (NGS). By identifying common genetic and epigenetic alterations associated with specific cancer types, cfDNA or circulating tumor DNA (ctDNA) can serve as robust biomarkers for monitoring tumor initiation and progression. Other biomarkers, such as circulating microRNAs (miRNAs), extracellular vesicles, or circulating tumor cells (CTCs) are also applied in this context. Liquid biopsy has gained attention as a versatile tool for cancer diagnostics, prognosis, therapeutic monitoring, and minimal residual disease (MRD) detection across various malignancies, including hematological cancers like myeloid and lymphoid leukemias. Herein, we present a comprehensive review of liquid biopsy usage in leukemia, with a specific focus on the clinical utility of ctDNA, miRNAs, and exosomes in monitoring treatment response, tracking clonal evolution, and detecting minimal residual disease. Our review emphasizes the translational implications of these tools for improving patient outcomes and outlines current challenges in their integration into clinical practice. Full article
(This article belongs to the Special Issue Recent Advances in Genetic Studies on Leukemia)
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23 pages, 1108 KiB  
Review
Recent Advances in the Molecular Biology of Chronic Lymphocytic Leukemia: How to Define Prognosis and Guide Treatment
by Annalisa Arcari, Lucia Morello, Elena Borotti, Elena Ronda, Angela Rossi and Daniele Vallisa
Cancers 2024, 16(20), 3483; https://doi.org/10.3390/cancers16203483 - 14 Oct 2024
Cited by 2 | Viewed by 2591
Abstract
Chronic Lymphocytic Leukemia (CLL) is the most frequent type of leukemia in Western countries. In recent years, there have been important advances in the knowledge of molecular alterations that underlie the disease’s pathogenesis. Very heterogeneous prognostic subgroups have been identified by the mutational [...] Read more.
Chronic Lymphocytic Leukemia (CLL) is the most frequent type of leukemia in Western countries. In recent years, there have been important advances in the knowledge of molecular alterations that underlie the disease’s pathogenesis. Very heterogeneous prognostic subgroups have been identified by the mutational status of immunoglobulin heavy variable genes (IGVH), FISH analysis and molecular evaluation of TP53 mutations. Next-generation sequencing (NGS) technologies have provided a deeper characterization of the genomic and epigenomic landscape of CLL. New therapeutic targets have led to a progressive reduction of traditional chemoimmunotherapy in favor of specific biological agents. Furthermore, in the latest clinical trials, the minimal residual disease (MRD) has emerged as a potent marker of outcome and a guide to treatment duration. This review focuses on recent insights into the understanding of CLL biology. We also consider the translation of these findings into the development of risk-adapted and targeted therapeutic approaches. Full article
(This article belongs to the Special Issue Recent Advances in Genetic Studies on Leukemia)
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