Genetics in Hematological Malignancies

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

Deadline for manuscript submissions: 10 November 2025 | Viewed by 390

Special Issue Editor


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Guest Editor
Independent Laboratory of Genetic Diagnostics, Medical University of Lublin, Gębali 6, 20-093 Lublin, Poland
Interests: MDS; leukemia; acute myeloid leukemia; acute lymphoblastic leukemia; non-Hodgkin lymphoma; neuroblastoma; microarrays; NGS; cytogenetics; targeted therapy
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Special Issue Information

Dear Colleagues,

Hematological malignancies, including leukemias, lymphomas, and myelomas, are characterized by complex genetic alterations that drive their pathogenesis. This Special Issue aims to explore the role of genetics in understanding these diseases, focusing on recent advancements in genomic technologies and their application in clinical practice. Topics may include the discovery of novel genetic mutations, the impact of epigenetics on disease progression, and the importance of genetic profiling for personalized treatment strategies. Additionally, the Special Issue will highlight the significance of next-generation sequencing and bioinformatics in identifying biomarkers for diagnosis and prognosis. By fostering a deeper understanding of the genetic landscape of hematological malignancies, it seeks to contribute to the development of innovative therapeutic approaches and improve patient outcomes.

Dr. Monika Lejman
Guest Editor

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Keywords

  • hematological malignancies
  • genomic alterations
  • personalized medicine
  • next-generation sequencing
  • epigenetics
  • biomarkers
  • leukemia
  • lymphoma
  • myeloma
  • genetic profiling

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Published Papers (1 paper)

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Research

25 pages, 2333 KiB  
Article
Loss of Heterozygosity in Pediatric Acute Lymphoblastic Leukemia and Its Prognostic Impact: A Retrospective Study
by Borys Styka, Gabriela Ręka, Aleksandra Ozygała, Mariola Janiszewska, Magdalena Stelmach, Paulina Skowera, Zuzanna Urbańska and Monika Lejman
Cancers 2025, 17(15), 2500; https://doi.org/10.3390/cancers17152500 - 29 Jul 2025
Viewed by 206
Abstract
Background: In childhood acute lymphoblastic leukemia (ALL), in addition to classical chromosomal abnormalities, loss of heterozygosity (LOH), including copy-neutral LOH, is also observed. While LOH has been described in the literature, its clinical relevance in pediatric ALL remains unclear. The aim of this [...] Read more.
Background: In childhood acute lymphoblastic leukemia (ALL), in addition to classical chromosomal abnormalities, loss of heterozygosity (LOH), including copy-neutral LOH, is also observed. While LOH has been described in the literature, its clinical relevance in pediatric ALL remains unclear. The aim of this study is to identify and analyze patterns of LOH, assess their frequency, and evaluate their association with clinical characteristics and early treatment response during the induction phase of the ALL protocol. Methods: The study included 853 pediatric ALL patients, of whom 120 had B-ALL LOH+ and 58 had T-ALL LOH+. LOH was analyzed using CytoScan HD SNP microarrays. Patients were stratified using multiple correspondence analysis (MCA) and hierarchical clustering on principal components (HCPC), which identified three genetically and clinically distinct clusters. Results: In B-ALL, two clusters with extensive LOH—particularly involving chromosome 9—were associated with poor prognosis and suboptimal response to therapy. In contrast, Cluster 2, characterized by CDKN2A duplication and rare LOH, showed a favorable clinical course. In T-ALL, Cluster 1 had LOH in CDKN2A but favorable outcomes; Cluster 2 exhibited biallelic CDKN2A deletion and aggressive disease; Cluster 3 lacked CDKN2A alterations and showed a genetically stable profile. LOH was common on chromosomes not typically affected by trisomy and rare on those gained. Conclusions: Our study indicates that LOH profiling can positively influence patient stratification by identifying high-risk subgroups, inform prognosis by highlighting unfavorable genetic alterations, and help predict poor treatment response in specific clinical profiles. Full article
(This article belongs to the Special Issue Genetics in Hematological Malignancies)
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