Clinical Molecular Genetics in Hematologic Diseases
A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Molecular Genetics and Genomics".
Deadline for manuscript submissions: 20 March 2025 | Viewed by 32
Special Issue Editors
Interests: hematological malignancies; lung cancer; structural chromosomal abnormalities; advanced technologies in molecular diagnostics
Special Issues, Collections and Topics in MDPI journals
Special Issue Information
Dear Colleagues,
Hematologic diseases comprise a wide spectrum of disorders affecting blood and blood-forming organs, including both cancerous and noncancerous diseases. Many noncancerous hematologic diseases are caused by inherited genetic aberrations. For example, Factor Five Leiden thrombophilia, a blood clotting disorder manifesting as deep vein thrombosis in the legs or pulmonary embolism in adults, is caused by a heterozygous or homozygous c.1601G>A (p.Arg534Gln) variant in the F5 gene, which is inherited from an affected parent in an autosomal dominant manner. Hemophilia A, a type of bleeding disorder manifesting mostly as prolonged bleeding time after injuries and spontaneous bleeding, is caused by various mutations of the F8 gene and inherited in an X-linked manner. Many cancerous hematologic diseases, or hematologic malignancies, have been characterized by recurrent genetic alterations presenting in various forms, e.g., t(9;22)(q34.1;q11.2)/BCR::ABL1 fusion, a variety of 11q23 abnormalities/KMT2A(MLL) rearrangements, and/or KMT2A(MLL) partial tandem duplication (PTD), TP53 deletions/mutations, the NPM1 mutation, and so on. Most of these acquired genetic alterations are widely applied as biomarkers for the diagnosis/classification, targeted therapies, and prognostic stratification in hematologic malignancies. In the past two decades, tremendous progress has been made in the exploration and definition of genetic cause(s) of hematologic diseases, of both noncancerous and cancerous types. The precise detection of these genetic aberrations plays a critical role in the establishment of diagnosis and the optimal clinical management of hematologic diseases.
Dr. Zhenya Tang
Dr. Lei Zhang
Guest Editors
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Keywords
- hematologic diseases
- genetic aberration
- hematologic malignancies
- next generation sequencing (NGS)
- precision medicine
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