Updates on the Genetics of Myeloid Malignancies

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

Deadline for manuscript submissions: closed (25 November 2024) | Viewed by 5933

Special Issue Editor


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Guest Editor
Department of Translational Hematology and Oncology Research, Taussig Cancer Institute, Cleveland Clinic, Cleveland, OH 44195, USA
Interests: myeloid malignancies; bone marrow failure syndromes; RNA splicing
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Special Issue Information

Dear Colleagues, 

Myeloid malignancies are clonal hematopoietic disorders characterized by the presence of mutations in hematopoietic progenitors. The application of modern genome sequencing has provided clues to identify novel mutated gene pathways and their roles in disease pathogenesis. Computer science has created the possibility to build algorithms and bioinformatics tools to incorporate a variety of genomic information possibly leading to improvement in the selection of therapeutics in the near future.

This special issue is open to original research articles and reviews on the scope of genetics and genomics of myeloid malignancies. Submissions on artificial intelligence and novel computational methods on genetics features of myeloid malignancies is highly encouraged.

Dr. Valeria Visconte
Guest Editor

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Keywords

  • myeloid malignancies
  • genetics
  • genomics
  • artificial intelligence
  • novel computational methods

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Published Papers (3 papers)

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Editorial

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5 pages, 596 KiB  
Editorial
The Heterogeneous Complexity of Myeloid Neoplasm: Multi-Level Approaches to Study the Disease
by Hussein Awada and Valeria Visconte
Cancers 2023, 15(5), 1449; https://doi.org/10.3390/cancers15051449 - 24 Feb 2023
Viewed by 1422
Abstract
Myeloid neoplasms (MNs) include a spectrum of bone marrow malignancies that result from the clonal expansion and arrest of differentiation of myeloid progenitor cells [...] Full article
(This article belongs to the Special Issue Updates on the Genetics of Myeloid Malignancies)
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Review

Jump to: Editorial

15 pages, 680 KiB  
Review
Fusion Genes in Myeloid Malignancies
by Chieh Hwee Ang, Hein Than, Tertius T. Tuy and Yeow Tee Goh
Cancers 2024, 16(23), 4055; https://doi.org/10.3390/cancers16234055 - 3 Dec 2024
Viewed by 729
Abstract
Fusion genes arise from gross chromosomal rearrangements and have been closely linked to oncogenesis. In myeloid malignancies, fusion genes play an integral role in the establishment of diagnosis and prognostication. In the clinical management of patients with acute myeloid leukemia, fusion genes are [...] Read more.
Fusion genes arise from gross chromosomal rearrangements and have been closely linked to oncogenesis. In myeloid malignancies, fusion genes play an integral role in the establishment of diagnosis and prognostication. In the clinical management of patients with acute myeloid leukemia, fusion genes are deeply incorporated in risk stratification criteria to guide the choice of therapy. As a result of their intrinsic ability to define specific disease entities, oncogenic fusion genes also have immense potential to be developed as therapeutic targets and disease biomarkers. In the current era of genomic medicine, breakthroughs in innovation of sequencing techniques have led to a rise in the detection of novel fusion genes, and the concept of standard-of-care diagnostics continues to evolve in this field. In this review, we outline the molecular basis, mechanisms of action and clinical impact of fusion genes. We also discuss the pros and cons of available methodologies that can be used to detect fusion genes. To contextualize the challenges encountered in clinical practice pertaining to the diagnostic workup and management of myeloid malignancies with fusion genes, we share our experience and insights in the form of three clinical case studies. Full article
(This article belongs to the Special Issue Updates on the Genetics of Myeloid Malignancies)
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18 pages, 1866 KiB  
Review
Single-Cell Next-Generation Sequencing to Monitor Hematopoietic Stem-Cell Transplantation: Current Applications and Future Perspectives
by Olisaemeka Ogbue, Serhan Unlu, Gogo-Ogute Ibodeng, Abhay Singh, Arda Durmaz, Valeria Visconte and John C. Molina
Cancers 2023, 15(9), 2477; https://doi.org/10.3390/cancers15092477 - 26 Apr 2023
Cited by 2 | Viewed by 3058
Abstract
Acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS) are genetically complex and diverse diseases. Such complexity makes challenging the monitoring of response to treatment. Measurable residual disease (MRD) assessment is a powerful tool for monitoring response and guiding therapeutic interventions. This is accomplished [...] Read more.
Acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS) are genetically complex and diverse diseases. Such complexity makes challenging the monitoring of response to treatment. Measurable residual disease (MRD) assessment is a powerful tool for monitoring response and guiding therapeutic interventions. This is accomplished through targeted next-generation sequencing (NGS), as well as polymerase chain reaction and multiparameter flow cytometry, to detect genomic aberrations at a previously challenging leukemic cell concentration. A major shortcoming of NGS techniques is the inability to discriminate nonleukemic clonal hematopoiesis. In addition, risk assessment and prognostication become more complicated after hematopoietic stem-cell transplantation (HSCT) due to genotypic drift. To address this, newer sequencing techniques have been developed, leading to more prospective and randomized clinical trials aiming to demonstrate the prognostic utility of single-cell next-generation sequencing in predicting patient outcomes following HSCT. This review discusses the use of single-cell DNA genomics in MRD assessment for AML/MDS, with an emphasis on the HSCT time period, including the challenges with current technologies. We also touch on the potential benefits of single-cell RNA sequencing and analysis of accessible chromatin, which generate high-dimensional data at the cellular resolution for investigational purposes, but not currently used in the clinical setting. Full article
(This article belongs to the Special Issue Updates on the Genetics of Myeloid Malignancies)
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