Abstract
Single autosomal trisomy is a common numerical cytogenetic abnormality in hematological malignancies, and shows a predilection for myeloid disorders. While the strong morphologic correlation as for chromosomal translocations is lacking, phenotypic associations are observed for the trisomies. Trisomy 10 is associated with aberrant CD7 expression in acute myeloid leukemia (AML), and trisomy 13 is associated with immature subtypes of AML having hand-mirror blast morphology. Cytogenetic abnormalities have been shown to be the most valuable prognostic determinant in AML and myelodysplastic syndrome (MDS). Trisomy 8, the commonest of the trisomies in myeloid disorders, is associated with an intermediate prognosis, while poor clinical outcome has been described in AML with trisomy 11 and trisomy 13. Additionally, the presence of a trisomy allows the application of fluorescence in situ hybridization (FISH) techniques in monitoring therapy response, detection of minimal residual disease and determination of l ineage involvement. The role of trisomy in pathogenesis remains to be defined and a gene dosage effect has been suspected. The recent finding of MLL gene duplication in association with trisomy 11 represents the first documented gene rearrangement in this setting. Finally, whether single autosomal trisomy is a primary or secondary cytogenetic abnormality is presently unclear. Evidence in favor of a secondary change includes frequent association with well-defined structural changes and translocations, and appearance of trisomy with disease evolution. In this respect, it is interesting to note that trisomy may be a cytogenetic marker for an underlying cryptic gene rearrangement, for example trisomy 22 and CBFbeeta MYH11 fusion in AML. This review will summarize the current understanding of single autosomal trisomy in myeloid disorders.
Keywords: Single Autosomal Trisomy, Acute Myeloid Leukemia, Myelodysplastic Syndrome, Aberrant CD7 expression, Myeloid Leukemia AML, Fluorescence in situ hybridization, MLL Gene Duplication, Myeloid Disorders, Trisomy, Leukemogenesis
Current Genomics
Title: Single Autosomal Trisomy in Acute Myeloid Leukemia and Myelodysplastic Syndrome
Volume: 1 Issue: 2
Author(s): S. K. Ma and T. S.K. Wan
Affiliation:
Keywords: Single Autosomal Trisomy, Acute Myeloid Leukemia, Myelodysplastic Syndrome, Aberrant CD7 expression, Myeloid Leukemia AML, Fluorescence in situ hybridization, MLL Gene Duplication, Myeloid Disorders, Trisomy, Leukemogenesis
Abstract: Single autosomal trisomy is a common numerical cytogenetic abnormality in hematological malignancies, and shows a predilection for myeloid disorders. While the strong morphologic correlation as for chromosomal translocations is lacking, phenotypic associations are observed for the trisomies. Trisomy 10 is associated with aberrant CD7 expression in acute myeloid leukemia (AML), and trisomy 13 is associated with immature subtypes of AML having hand-mirror blast morphology. Cytogenetic abnormalities have been shown to be the most valuable prognostic determinant in AML and myelodysplastic syndrome (MDS). Trisomy 8, the commonest of the trisomies in myeloid disorders, is associated with an intermediate prognosis, while poor clinical outcome has been described in AML with trisomy 11 and trisomy 13. Additionally, the presence of a trisomy allows the application of fluorescence in situ hybridization (FISH) techniques in monitoring therapy response, detection of minimal residual disease and determination of l ineage involvement. The role of trisomy in pathogenesis remains to be defined and a gene dosage effect has been suspected. The recent finding of MLL gene duplication in association with trisomy 11 represents the first documented gene rearrangement in this setting. Finally, whether single autosomal trisomy is a primary or secondary cytogenetic abnormality is presently unclear. Evidence in favor of a secondary change includes frequent association with well-defined structural changes and translocations, and appearance of trisomy with disease evolution. In this respect, it is interesting to note that trisomy may be a cytogenetic marker for an underlying cryptic gene rearrangement, for example trisomy 22 and CBFbeeta MYH11 fusion in AML. This review will summarize the current understanding of single autosomal trisomy in myeloid disorders.
Export Options
About this article
Cite this article as:
Ma K. S. and Wan S.K. T., Single Autosomal Trisomy in Acute Myeloid Leukemia and Myelodysplastic Syndrome, Current Genomics 2000; 1 (2) . https://dx.doi.org/10.2174/1389202003351553
DOI https://dx.doi.org/10.2174/1389202003351553 |
Print ISSN 1389-2029 |
Publisher Name Bentham Science Publisher |
Online ISSN 1875-5488 |
Call for Papers in Thematic Issues
Advanced AI Techniques in Big Genomic Data Analysis
The thematic issue on "Advanced AI Techniques in Big Genomic Data Analysis" aims to explore the cutting-edge methodologies and applications of artificial intelligence (AI) in the realm of genomic research, where vast amounts of data pose both challenges and opportunities. This issue will cover a broad spectrum of AI-driven strategies, ...read more
Advanced Computational Algorithms and Artificial Intelligence in Clinical Pharmacogenomics
In the era of personalized medicine, understanding the relationship between genetics and drug response is crucial. This issue delves into innovative methodologies, leveraging deep computational analysis and artificial intelligence, to enhance the field of Clinical Pharmacogenomics. The interdisciplinary approach harnesses the power of advanced high-throughput genotyping technologies, sophisticated computational analysis, ...read more
Applications of Single-cell Sequencing Technology in Reproductive Medicine
Single cell sequencing (SCS) technology utilizes individual cells' genetic material to sequence their genome, transcriptome, and epigenetics at the molecular level. It offers insights into cell heterogeneity and enables the study of limited biological materials. Since its recognition as a valuable technique in 2011, single cell sequencing has yielded numerous ...read more
Big Data in Cancer Research
Cancer is a significant threat to human life and health, remaining a highly aggressive killer. It is a leading cause of death worldwide and represents a crucial medical issue for humanity. However, in the past decade, the effectiveness of new synthetic anticancer agents has not matched the current clinical speculation. ...read more
Related Journals
- Author Guidelines
- Graphical Abstracts
- Fabricating and Stating False Information
- Research Misconduct
- Post Publication Discussions and Corrections
- Publishing Ethics and Rectitude
- Increase Visibility of Your Article
- Archiving Policies
- Peer Review Workflow
- Order Your Article Before Print
- Promote Your Article
- Manuscript Transfer Facility
- Editorial Policies
- Allegations from Whistleblowers
- Announcements
Related Articles
-
Editorial [Hot Topic: Targeted Therapies in Oncology (Guest Editor: Monica M. Mita)]
Current Drug Targets Exploiting EPR in Polymer Drug Conjugate Delivery for Tumor Targeting
Current Pharmaceutical Design Crocins: The Active Constituents of Crocus Sativus L. Stigmas, Exert Significant Cytotoxicity on Tumor Cells In Vitro
Current Cancer Therapy Reviews Functional Role of miR-34 Family in Human Cancer
Current Drug Targets Recent Advancements in 1,4-Disubstituted 1H-1,2,3-Triazoles as Potential Anticancer Agents
Anti-Cancer Agents in Medicinal Chemistry HPV Pathway Profiling: HPV Related Cervical Dysplasia and Carcinoma Studies
Current Pharmaceutical Design SRC: Regulation, Role in Human Carcinogenesis and Pharmacological Inhibitors
Current Pharmaceutical Design Impact of Oncogenic Protein Tyrosine Phosphatases in Cancer
Anti-Cancer Agents in Medicinal Chemistry Anticancer Drug Combinations, How Far We can Go Through?
Anti-Cancer Agents in Medicinal Chemistry Histone Deacetylase Inhibitors: A New Wave of Molecular Targeted Anticancer Agents
Recent Patents on Anti-Cancer Drug Discovery Synthetic Curcumin Analog UBS109 Inhibits the Growth of Head and Neck Squamous Cell Carcinoma Xenografts
Current Cancer Drug Targets Combinations of Plant Polyphenols & Anti-Cancer Molecules: A Novel Treatment Strategy for Cancer Chemotherapy
Anti-Cancer Agents in Medicinal Chemistry Irinotecan for Treatment of Childhood Cancers: A Promising Therapeutic Partner
Current Cancer Therapy Reviews RNA-Based Gene Therapy for Haemophilia B
Current Genomics Epidemiology and Prevention of Bacterial Infections in Patients with Hematologic Malignancies
Infectious Disorders - Drug Targets Non-Infectious Complications of Immunosuppressant Medications in Renal Transplant Patients
Current Clinical Pharmacology The Role of Platelets and their Microparticles in Rehabilitation of Ischemic Brain Tissue
CNS & Neurological Disorders - Drug Targets Emerging Concepts on Inhibitors of Indoleamine 2,3-Dioxygenase in Rheumatic Diseases
Current Medicinal Chemistry Small Molecules ATP-Competitive Inhibitors of FLT3: A Chemical Overview
Current Medicinal Chemistry The Proteasome in Health and Disease
Current Pharmaceutical Design