Cytogenetic Abnormalities

Chromosomal, FISH, and Microarray-Based Clinical Reporting and Interpretation of Result

Häftad, Engelska, 2014

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Cytogenetics is the study of the structure and function of chromosomes in relation to phenotypic expression.Chromosomal abnormalities underlie the development of a wide variety of diseases and disorders ranging from Down syndrome to cancer, and are of widespread interest in both basic and clinical research. Cytogenetic Abnormalities: Chromosomal, FISH, and Microarray-Based Clinical Reporting is a practical guide that describes cytogenetic abnormalities, their clinical implications and how best to report and communicate laboratory findings in research and clinical settings. The text first examines chromosomal, FISH, and microarray-based analyses in constitutional disorders. Using these same methodologies, the book's focus shifts to acquired abnormalities in cancers. Both sections provide illustrative examples of cytogenetic abnormalities and how to communicate these findings in standardized laboratory reports. Providing both a wealth of cytogenetic information, as well as practical guidance on how best to communicate findings to fellow research and medical professionals, Cytogenetic Abnormalities will be an essential resource for cytogeneticists, laboratory personnel, clinicians, research scientists, and students in the field. A guide to interpreting and reporting cytogenetic laboratory results involved in constitutional disorders and cancersGuides the reader on implementing the International System for Human Cytogenetic Nomenclature in written reportsProvides information to allow scientists and medical professionals to fully understand and communicate cytogenetic abnormalitiesDescribes a wide array of cytogenetic abnormalities observed in the laboratoryDivided into user-friendly sections devoted to methodologies and implications of specific diseases

Produktinformation

Utgivningsdatum2014-09-19
Mått178 x 254 x 28 mm
Vikt1 225 g
FormatHäftad
SpråkEngelska
Antal sidor672
FörlagJohn Wiley and Sons Ltd
ISBN9781118912492

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Cellbiologi inom Naturvetenskap och teknik

Preface xivAcknowledgments xvAbout the companion website xviIntroduction 1Part 1: Constitutional Analyses 5Section 1: Chromosome Analysis 71 Components of a standard cytogenetics report, normal results and culture failures 91.1 Components of a standard cytogenetics report 91.2 Prenatal normal results 171.3 Neonatal normal results 221.4 Normal variants in the population 231.5 Disclaimers and recommendations 291.6 Culture failures 301.7 Contamination 322 Mosaicism 352.1 Normal results with 30–50 cells examined 372.2 Normal and abnormal cell lines 372.3 Two or more abnormal cell lines 393 Autosomal trisomies – prenatal and livebirths 413.1 Introduction 413.2 Trisomy 21 – Down syndrome 423.3 Mosaic trisomy 21 – mosaic Down syndrome 433.4 Trisomy 13 – Patau syndrome 443.5 Trisomy 18 – Edwards syndrome 453.6 Trisomy 8 – mosaic 463.7 Trisomy 9 – mosaic 473.8 Trisomy 20 – mosaic, prenatal 473.9 Trisomy 22 – mosaic, prenatal 484 Translocations 514.1 Reciprocal (balanced) translocations 514.2 Robertsonian translocations 585 Inversions and recombinant chromosomes 675.1 Risks of spontaneous abortions and liveborn abnormal offspring 675.2 Pericentric inversions and their recombinants 675.3 Paracentric inversions and their recombinants 716 Visible deletions, duplications and insertions 756.1 Definitions 756.2 Visible duplications 796.3 Balanced insertions 807 Unidentifiable marker chromosomes, derivative chromosomes, chromosomes with additional material and rings 857.1 Marker chromosomes 857.2 Derivative chromosomes 877.3 Chromosomes with additional material 907.4 Ring chromosomes 917.5 Homogenously staining regions 948 Isochromosomes, dicentric chromosomes and pseudodicentric chromosomes 978.1 Isochromosomes/dicentric chromosomes 978.2 Pseudodicentric chromosomes 1049 Composite karyotypes and other complex rearrangements 1079.1 Composite karyotypes 1079.2 Complex rearrangements 10910 Sex chromosome abnormalities 11510.1 X chromosome aneuploidies – female phenotypes 11510.2 X and Y chromosome aneuploidies – male phenotypes 12010.3 X chromosome structural abnormalities 12210.4 Y chromosome structural abnormalities 12810.5 46,XX males and 46,XY females 13210.6 X chromosome translocations 13511 Fetal demises/spontaneous abortions 14311.1 Aneuploid rate 14311.2 Confined placental mosaicism 14411.3 Hydatidiform moles 14511.4 Monosomy X in a fetus 14611.5 Trisomies in a fetus 14611.6 Double trisomy 14911.7 Triploidy 15011.8 Tetraploidy 15112 Uniparental disomy 15512.1 Uniparental disomy of chromosome 14 15712.2 Uniparental disomy of chromosome 15 15812.3 Uniparental disomy of chromosome 11p15 159Section 2: Fluorescence In Situ Hybridization (FISH) Analysis 16113 Metaphase analysis 16313.1 Introduction 16313.2 Reporting normal results 16413.3 Common disclaimers 16613.4 Microdeletions 16713.5 Microduplications 19013.6 Fluorescence in situ hybridization for chromosome identification 19813.7 Subtelomere fluorescence in situ hybridization analysis 20014 Interphase analysis 20514.1 Introduction 20514.2 Example report of interphase analysis 20614.3 Common disclaimers 20714.4 Reporting normal results 20814.5 Abnormal prenatal/neonatal results 21114.6 Abnormal product of conception FISH abnormalities 21814.7 Molar pregnancies 22214.8 Preimplantation genetic diagnosis 22215 Integrated chromosome and FISH analyses 23115.1 ISCN rules and reporting normal results by chromosomes and FISH 23215.2 ISCN rules and reporting abnormal chromosomes and FISH 23315.3 ISCN rules and reporting of chromosomes and subtelomere FISH 237Section 3: Chromosomal Microarray Analysis (CMA) 24316 Bacterial artificial chromosome, oligoarray and single nucleotide polymorphism array methodologies for analysis 24516.1 Introduction 24516.2 Clinical utility of chromosomal microarray analysis 25016.3 Guidelines for classification states 25116.4 ISCN rules and reporting of normal results 25216.5 Comments, disclaimers and recommendations 25317 Microarray abnormal results 25717.1 Reporting of abnormal results 25717.2 Loss or gain of a single chromosome 25817.3 Loss or gain of a whole chromosome complement 26217.4 Microdeletions 26317.5 Microduplications 26517.6 Derivative chromosomes 26717.7 Variants of unknown significance 26917.8 Uniparental disomy/loss of heterozygosity/regions of homozygosity 26917.9 Mosaicism 27117.10 Common comments in abnormal reports 27317.11 Microarrays with concurrent FISH studies and/or chromosome studies 27417.12 Microarrays with concurrent parental studies 27417.13 Preimplantation genetic diagnosis testing 27517.14 Non-invasive prenatal testing 27618 Pathogenic chromosomal microarray copy number changes by chromosome order 28518.1 Chromosome 1 28518.2 Chromosome 2 28718.3 Chromosome 3 28918.4 Chromosome 4 29018.5 Chromosome 5 29118.6 Chromosome 7 29218.7 Chromosome 8 29318.8 Chromosome 14 29418.9 Chromosome 15 29418.10 Chromosome 16 29618.11 Chromosome 17 29818.12 Chromosome 19 30118.13 Chromosome 22 30218.14 Chromosome X 30619 Integrated reports with cytogenetics, FISH and microarrays 31519.1 Reporting of a deletion 31519.2 Reporting of a supernumerary chromosome 31619.3 Reporting of an unbalanced translocation – deletion/duplication 31819.4 Reporting of multiple abnormal cell lines 322Part 2: Acquired Abnormalities in Hematological and Tumor Malignancies 325Section 1: Chromosome Analysis 32720 Introduction 32920.1 Description of World Health Organization classification for hematological malignancies 33220.2 Description of different tumor types with significant cytogenetic abnormalities 33220.3 Set-up and analysis of specific cultures for optimal results 33320.4 Nomenclature rules for normal and simple abnormal results 33620.5 Common report comments for hematological malignancies 33821 Results with constitutional or other non-neoplastic abnormalities 34721.1 Possible constitutional abnormalities observed 34721.2 Age-related abnormalities 34921.3 Non-clonal aberrations 35121.4 No growth and poor growth 35422 Cytogenetic abnormalities in myeloid disorders 35722.1 Introduction to myeloid disorders 35722.2 Individual myeloid abnormalities by chromosome order 36023 Cytogenetic abnormalities in lymphoid disorders 39523.1 Introduction to lymphoid disorders 39523.2 Hyperdiploidy and hypodiploidy 39623.3 Individual lymphoid abnormalities by chromosome order 39824 Common biphenotypic abnormalities and secondary changes 42324.1 Translocation (4;11)(q21;q23) 42324.2 Del(9q) 42424.3 Translocation (11;19)(q23;p13.3) 42424.4 Del(12)(p11.2p13) 42524.5 Trisomy 15 42524.6 i(17q) 42625 Reporting complex abnormalities and multiple cell lines 42925.1 Stemline and sideline abnormalities 43025.2 Unrelated abnormal clones 43425.3 Composite karyotypes 43525.4 Double minute chromosomes 43625.5 Modal ploidy numbers 43825.6 Multiple abnormal cell lines indicative of clonal evolution 44026 Breakage disorders 44526.1 Ataxia telangiectasia 44526.2 Bloom syndrome 44626.3 Fanconi anemia 44726.4 Nijmegen syndrome 44827 Cytogenetic abnormalities in solid tumors 45127.1 Clear cell sarcoma 45127.2 Chondrosarcoma 45227.3 Ewing sarcoma 45327.4 Liposarcoma 45327.5 Neuroblastoma 45427.6 Rhabdomyosarcoma 45527.7 Synovial sarcoma 45627.8 Wilms tumor 456Section 2: Fluorescence In Situ Hybridization (FISH) Analysis 45928 Introduction to FISH analysis for hematological disorders and solid tumors 46128.1 General results 46228.2 Bone marrow transplantation results 46829 Recurrent FISH abnormalities in myeloid disorders 47129.1 Individual abnormalities in myeloid disorders by chromosome order 47129.2 Biphenotypic and therapy-related abnormalities 49129.3 Panels of probes 49230 Recurrent FISH abnormalities in lymphoid disorders 49930.1 Individual abnormalities in lymphoid disorders by chromosome order 49930.2 Panels of probes 52031 Integrated reports with cytogenetics and FISH in hematological malignancies 53131.1 Translocation (9;22) with BCR/ABL1 FISH analysis 53131.2 Monosomy 7 with a marker chromosome and chromosome 7 FISH analysis 53231.3 Complex abnormalities with the MDS FISH panel 53231.4 Complex abnormalities with ALL FISH panel 53331.5 Complex abnormalities with MM FISH panel 53531.6 Complex abnormalities with AML FISH panel 53631.7 Complex abnormalities with AML FISH panel in therapy-related disease 53732 Recurrent FISH abnormalities in solid tumors using paraffin-embedded tissue 54132.1 Ewing sarcoma 54432.2 Liposarcoma 54532.3 Neuroblastoma 54632.4 Non-small cell lung cancer 54732.5 Oligodendroglioma 55232.6 Rhabdomyosarcoma 55432.7 Synovial sarcoma 55433 Breast cancer – HER2 FISH analysis 55933.1 Common report comments 56033.2 Example HER2 reports 56133.3 Genetic heterogeneity 56334 Bladder cancer FISH analysis 56934.1 Common report comments 57034.2 Example reports 570Section 3: Chromosomal Microarray Analysis (CMA) 57735 Chromosomal microarray analysis for hematological disorders 57935.1 Introduction 57935.2 Categories of abnormalities 58035.3 Complex abnormalities throughout the genome, chromothripsis and homozygosity 58135.4 Normal results and disclaimers 58235.5 Example abnormal results in hematological malignancies 58336 Chromosomal microarrays for tumors 59536.1 Introduction and disclaimers 59536.2 Breast cancer 59636.3 Lung cancer 60436.4 Colon cancer 60636.5 Prostate cancer 60736.6 Unspecified tumor present 60737 Integrated reports with chromosomes, FISH and microarrays 61137.1 Homozygous deletion of 9p21 identified by FISH and CMA 61137.2 Identifying marker chromosomes by chromosome analysis, FISH and CMA 61237.3 Unbalanced translocation identification by chromosomes, FISH and CMA 614Appendix 1: Example assay-specific reagent (ASR) FISH validation plan for constitutional disorders and hematological malignancies on fresh tissue 617Glossary 623Index 641