Clinical Cytogenetics, An Issue of Clinics in Laboratory Medicine

Caroline Astbury

Description

This issue of Clinics in Laboratory Medicine, Guest Edited by Caroline Astbury, PhD, FACMG, will focus on Cytogenetics, with topics including: Chronic lymphocytic leukemia; Acute lymphocytic leukemia; Acute myelogenous leukemia; Chronic myelogenous leukemia; Plasma cell myeloma; Lymphomas; Solid tumors; Myelodysplastic syndromes; SNP arrays in clinical practice; Prenatal arrays; FISH (including Paraffin-embedded (PET) FISH); New and old microdeletion and microduplication syndromes; Sex chromosome and sex chromosome abnormalities; Autosomal aneuploidy; Microarray-CGH interpretation and Genomic Integrity; Structural chromosome rearrangements and complex chromosome rearrangements; and UPD/imprinting.

Sujets

• Medical
• Médecine
• Pathology

Informations

• Publié par: Saunders
• Date de parution: 28 décembre 2011
• Nombre de lectures: 0
• EAN13: 9781455709359
• Langue: English
• Poids de l'ouvrage: 3 Mo

Extrait

Clinical Cytogenetics , Vol. 31, No. 4, December 2011
ISSN: 0272-2712
doi: 10.1016/S0272-2712(11)00105-3

Contributors
Clinics in Laboratory Medicine
Clinical Cytogenetics
GUEST EDITOR: Caroline Astbury, PhD, FACMG
Cytogenetics and Molecular Genetics Laboratory, Department of Pathology and Laboratory Medicine, Nationwide Children’s Hospital, 700 Children’s Drive, Columbus, OH 43205, USA
CONSULTING EDITOR: Alan Wells, MD, DMSc
ISSN  0272-2712
Volume 31 • Number 4 • December 2011

Clinical Cytogenetics , Vol. 31, No. 4, December 2011
ISSN: 0272-2712
doi: 10.1016/S0272-2712(11)00106-5

Contents
Cover
Contributors
Forthcoming Issues
Cytogenetics
Sex Chromosomes and Sex Chromosome Abnormalities
Constitutional and Acquired Autosomal Aneuploidy
Chromosomal Structural Rearrangements: Detection and Elucidation of Mechanisms Using Cytogenomic Technologies
Fluorescence In Situ Hybridization
The Evolving Picture of Microdeletion/Microduplication Syndromes in the Age of Microarray Analysis: Variable Expressivity and Genomic Complexity
Interpretation of Copy Number Alterations Identified Through Clinical Microarray-Comparative Genomic Hybridization
Clinical Utility of Single Nucleotide Polymorphism Arrays
Diagnostic Implications of Excessive Homozygosity Detected by SNP-Based Microarrays: Consanguinity, Uniparental Disomy, and Recessive Single-Gene Mutations
Laboratory Aspects of Prenatal Microarray Analysis
Acute Lymphoblastic Leukemia
Genetics of Chronic Lymphocytic Leukemia
Acute Myeloid Leukemia: Conventional Cytogenetics, FISH, and Moleculocentric Methodologies
Chronic Myeloid Leukemia: Current Perspectives
Multiple Myeloma: Current Perspectives
Lymphoma Cytogenetics
Myelodysplastic Syndromes
Solid Tumor Cytogenetics: Current Perspectives
Index
Clinical Cytogenetics , Vol. 31, No. 4, December 2011
ISSN: 0272-2712
doi: 10.1016/S0272-2712(11)00107-7

Forthcoming Issues
Clinical Cytogenetics , Vol. 31, No. 4, December 2011
ISSN: 0272-2712
doi: 10.1016/j.cll.2011.08.017

Preface
Cytogenetics

Caroline Astbury, PhD [e-mail] ,
Cytogenetics and Molecular Genetics Laboratory, Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, 700 Children's Drive, Columbus, OH 43205, USA
Department of Pathology, The Ohio State University College of Medicine, 129 Hamilton Hall, 1645 Neil Avenue, Columbus, OH 43210, USA
It has been a great pleasure to serve as guest editor for the Clinical Cytogenetics edition of Clinics in Laboratory Medicine . For this issue, I have recruited authors who are experts in their field, from both academic and commercial clinical laboratories, and, while the majority of the authors reside in the United States, an international flavor is supplied by contributions from both the United Kingdom and Germany. I am extremely grateful to all of the authors for their time, effort, and expertise: the importance of clinical cytogenetics continues to be felt in the prenatal, postnatal, and oncological arenas, and the information obtained from analyzing chromosomes remains vital to patients and their physicians.
The first illustrations of chromosomes (“colored bodies”) were published in the 1880s. From those early days of chromosome studies to the current clinical techniques for banding and analysis, chromosomes have held an intrinsic beauty for those who study them. The field of cytogenetics has evolved enormously: first with the discovery of the correct number of chromosomes in humans (Tijo and Levan, 1956), to the discovery that nonrandom chromosome rearrangements are a hallmark of many cancers (Nowell and Hungerford, 1960), to the discovery of different stains that revealed the presence of differential banding along each chromosome pair (Caspersson, 1970), to the development of fluorescence in situ hybridization (FISH) techniques (∼1986), comparative genomic hybridization (∼1992), and microarray technologies, from bacterial artificial chromosome (BAC) to oligonucleotide to single-nucleotide polymorphism (SNP) arrays.
Although some traditional cytogenetic techniques have been superseded by the newer technologies, there is still a basic need for technologists to sit at a microscope and to count and analyze metaphase chromosomes. The article on sex chromosomes and sex chromosome abnormalities by Dr Li emphasizes this fact; the best way to diagnose abnormalities involving the X and Y chromosomes is initially via banded analysis. In addition, chromosome analysis is the most important tool when investigating autosomal aneuploidy and mosaicism, as detailed by Dr Jackson-Cook in her article on “Constitutional and Acquired Autosomal Aneuploidy.” While the first microdeletion syndromes to be described (Cri-du-Chat syndrome and Wolf-Hirschhorn syndrome) were readily identified by chromosome analysis, the use of FISH and microarray technologies have expanded the number of contiguous gene syndromes, as reviewed by Dr Rehder and coauthors in their article on the evolving picture of microdeletion/microduplication syndromes. Again, while microarray analysis has become the recommended initial diagnostic tool in patients with certain phenotypic findings such as developmental delay, autism, or unexplained mental retardation, there is still a need for analysis of chromosomes in tandem. This topic is detailed by Dr South in her article discussing cytogenomic technologies to elucidate chromosomal structural rearrangements and the common mechanisms that lead to phenotypically important imbalances. The utilization and benefits of FISH are referenced in almost every article in this issue of Clinics in Laboratory Medicine ; Dr Tsuchiya provides a comprehensive and illustrative review of its various applications.
The impact of microarray technologies on the field of clinical cytogenetics cannot be overemphasized. Dr Schwartz summarizes the various clinical applications of SNP-based microarrays. Dr Lamb discusses the issues associated with designing, running, and reporting prenatal microarrays, while Dr Pyatt and I summarize the interpretation of copy number alterations detected by oligoarray in postnatal analyses in our laboratory. Dr Kerney and coauthors discuss some of the diagnostic implications of SNP-based microarrays, focusing on consanguinity, uniparental disomy, and recessive single-gene mutations.
The articles on acquired chromosomal abnormalities cover the majority of hematological tumors. There is a broad theme to each of these articles, in that specific chromosomal rearrangements are frequently associated with specific types of cancer and have diagnostic, prognostic, and therapeutic implications. Professor Harrison describes the impact cytogenetics has had on the outcome and long-term survival of children with acute lymphoblastic leukemia. Drs Zhang and Rowley discuss chronic myelogenous leukemia, a disease that has served as an excellent model for our understanding of the mechanisms of genetic abnormalities in leukomogenesis. The discovery of specific genes that are involved in the initiation and progression of many cancers has led to the development of successful targeted drug therapies. Dr Schnaiter and coauthors describe the key genes associated with chronic lymphocytic leukemia, as well as the prospective applications of SNP arrays and Next Gen Sequencing in the clinical setting. Drs Morrissette and Bagg discuss conventional cytogenetics, FISH, and moleculocentric methodologies as applied to acute myeloid leukemia, summarizing the multifaceted approach to its diagnosis and treatment. The theme of combined chromosome analysis with FISH and array technologies is continued in the comprehensive article on myelodysplastic syndromes (MDS) by Dr Le Beau and colleagues; the authors emphasize the fact that cytogenetic analysis in MDS is critical for therapeutic decision-making in this disease. The article on multiple myeloma by Dr Slovak also points to the importance of the analysis of cytogenetic alterations in clonal plasma cells to enable ultimately genetic risk stratification. Dr Dave and coauthors' article on lymphomas describes the role cytogenetics has played in categorizing the various subtypes of this disease, which has led to a greater understanding of the genetic changes which have prognostic implications. All of these articles emphasize the importance of elucidating the pathogenesis of these diseases, so as to guide therapeutic targets and risk stratification and to tailor specific treatments to individuals.
Last, Dr Rao and colleagues discuss the cytogenetics of specific solid tumors, such as sarcomas, gliomas, and lung and bladder cancer, among others. In conjunction with cytology, histology, and morphology, conventional karyotyping in association with FISH has become an essential tool in the diagnosis, classification, and prognosis of these tumors.
In conclusion, by the time there is another issue of Clinics in Laboratory Medicine dedicated to the topic of Clinical Cytogenetics, it may be that whole genome sequencing or other as yet unidentified technologies will be the primary clinical tool in diagnosing a child with Down syndrome, or identifying the couple carrying a balanced translocation, or determining the specific mutation that leads to a relapsed acute myelogenous leukemia. Although new technologies have enhanced and broadened the field of clinical cytogenetics, I believe that there will always be a need for someone, be it a technologist, director, or pathologist, to look at colored bodies/chro