Molecular and Genetic Pathogenesis of Hematological Disorders

A special issue of Cells (ISSN 2073-4409). This special issue belongs to the section "Cellular Pathology".

Deadline for manuscript submissions: closed (10 May 2025) | Viewed by 1561

Special Issue Editor

1. Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON M5S 1A8, Canada
2. Department of Laboratory Hematology, Laboratory Medicine Program, University Health Network, Toronto, ON M5G 2C4, Canada
Interests: myeloma; molecular cytogenetics; prognostic factors; small molecule inhibitors

Special Issue Information

Dear Colleagues,

Hematological disorders, including leukemias, lymphomas, myelomas, anemias, and clotting disorders, account for a significant portion of the global disease burden, with hematologic malignancies alone constituting approximately 10% of new cancer diagnoses in 2023.

Understanding the molecular and genetic mechanisms underlying these disorders is crucial for developing targeted therapies. Recent advancements have highlighted the genetic mutations, epigenetic modifications, and molecular pathways driving these diseases. Breakthroughs in gene editing technologies, such as CRISPR/Cas9, have revolutionized our ability to identify and modify genetic aberrations. Additionally, insights into signal transduction pathways and the role of the microenvironment have deepened our understanding of disease progression and therapeutic resistance.

This Special Issue compiles original research and reviews on novel genetic biomarkers, innovative therapeutic strategies, and mechanisms of treatment resistance. By bringing together pioneering research, this Special Issue aims to advance our understanding and treatment of hematological disorders, ultimately improving patient outcomes.

Dr. Hong Chang
Guest Editor

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Keywords

  • hematological disorders
  • molecular and genetic mechanisms
  • signal transduction pathways
  • microenvironment
  • gene editing technologies
  • targeted therapies
  • novel biomarkers
  • mechanisms of treatment resistance
  • innovative therapeutic strategies

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Published Papers (1 paper)

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Research

11 pages, 1791 KiB  
Article
Association of Genomic Alterations with the Presence of Serum Monoclonal Proteins in Chronic Lymphocytic Leukemia
by Juan A. Piñeyroa, Irene López-Oreja, Ferran Nadeu, Ares Martínez-Farran, Juan Ignacio Aróstegui, Mónica López-Guerra, Juan Gonzalo Correa, Aleix Fabregat, Neus Villamor, Ines Monge-Escatín, Nil Albiol, Dolors Costa, Marta Aymerich, Sílvia Beà, Elías Campo, Julio Delgado, Dolors Colomer and Pablo Mozas
Cells 2024, 13(22), 1839; https://doi.org/10.3390/cells13221839 - 7 Nov 2024
Cited by 1 | Viewed by 1133
Abstract
The presence of a monoclonal protein detected by serum immunofixation electrophoresis (sIFE) has been reported as an adverse prognostic factor in chronic lymphocytic leukemia (CLL). However, the genetic underpinning of this finding has not been studied. We retrospectively studied 97 CLL patients with [...] Read more.
The presence of a monoclonal protein detected by serum immunofixation electrophoresis (sIFE) has been reported as an adverse prognostic factor in chronic lymphocytic leukemia (CLL). However, the genetic underpinning of this finding has not been studied. We retrospectively studied 97 CLL patients with simultaneous information on sIFE and genetic alterations detected by next-generation sequencing. sIFE was positive in 49 patients. The most common isotypes were IgG κ (27%) and bi/triclonal (25%). A +sIFE was associated with a higher number of mutated genes [median 2 (range 0–3) vs. 0 (range 0–2), p = 0.006], and a higher frequency of unmutated IGHV status (60 vs. 29%, p = 0.004). An IgM monoclonal protein was associated with TP53 mutations (36% in IgM +sIFE vs. 12% in non-IgM +sIFE or –sIFE, p = 0.04), and bi/triclonal proteins with NOTCH1 mutations (33% in bi/triclonal vs. 9% in monoclonal +sIFE or –sIFE, p = 0.04). These data suggest an association between a +sIFE and a higher mutational burden, and some monoclonal isotypes with specific mutations. Full article
(This article belongs to the Special Issue Molecular and Genetic Pathogenesis of Hematological Disorders)
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