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Human Cytogenetics : Malignancy and Acquired Abnormalities - Denise Rooney

Human Cytogenetics

Malignancy and Acquired Abnormalities

By: Denise Rooney (Editor)

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The advent of molecular technologies has lead to a rapid acceleration in the cytogenetic study of malignancy and acquired abnormalities. As well as having a chapter devoted to molecular technologies (FISH, PRINS, and CGH), molecular methodology is emphasized in all chapters, for example the role of CGH in solid tumour cytogenetics. Classical techniques are not forgotten, with a detailed description of the preparation and analysis of chromosomes from bone marrow and leukaemic blood. This is followed by three chapters on the specific methodology for the cytogenetic study of myeloid leukaemia, acute lymphoblastic leukaemia, and lymphomas and lymphoproliferative disorders. Also covered are chromosome instability syndromes, mutagen-induced chromosome damage in lymphocytes and the role of cytogenetics in the assessment of haematological disorders. This book will be invaluable to any scientists using cytogenetics to study malignancy and along with its sister volume Human Cytogenetics: Constitutional Analysis will be an essential purchase for any cytogenetics laboratory. The volumes are available individually or as a set.

"This is the much needed and awaited update of a cytogenetics reference last published in 1992 ... Both volumes of this 3rd rdition are outstanding contributions to the practice of clinical cytogenetics and should be fixtures in every cytogentics laboratory. The editor will be pleased to note (as she mentioned in her preface) that my copies sit prominently on my desk and are severely "dog-eared"" Kent E Opheim, PhD, Children's Hospital and Regional Medical Center

Prefacep. v
List of protocolsp. xiii
Abbreviationsp. xv
Basic techniques for the preparation and analysis of chromosomes from bone marrow and leukaemic bloodp. 1
Introductionp. 1
Cell culture techniquesp. 2
Culture of bone marrow aspiratesp. 2
Peripheral blood culturep. 10
Stimulated blood culture for constitutional karyotype analysisp. 11
Harvest and slide-preparation of bone marrow and blood culturesp. 13
Banding methodsp. 15
Preservation of bone marrow and whole blood for chromosome analysisp. 17
General guidelines for analysisp. 19
The detection of abnormal and normal clonesp. 19
Complementary techniques in cancer cytogeneticsp. 22
Fluorescence in situ hybridizationp. 22
Restriction fragment length polymorphism analysis and Southern blottingp. 24
Polymerase chain reactionp. 24
Summaryp. 25
Acknowledgementsp. 26
Referencesp. 26
Cytogenetics in myeloid leukaemiap. 27
Introductionp. 27
Special considerations for chromosome culture and analysis in myeloid disordersp. 27
Culture and analysisp. 28
Choice of tissuep. 29
The use of mitogens in myeloid disordersp. 30
Culture times with special reference to t(8;21) and t(15;17)p. 30
Effects of therapy on culture successp. 30
Acute myeloid leukaemiap. 31
Clinical featuresp. 31
The French-American-British system of classification of acute myeloid leukaemiap. 31
Cytogenetics of acute myeloid leukaemiap. 32
The myelodysplastic syndromesp. 33
Clinical featuresp. 33
The French-American-British classification of myelodysplastic syndromesp. 34
Cytogenetics of myelodysplastic syndromesp. 34
Myeloproliferative disordersp. 35
Clinical features and classification of myeloproliferative disordersp. 35
Incidence of cytogenetic changes in myeloproliferative diseasep. 36
Chronic granulocytic leukaemia: clinical featuresp. 36
Cytogenetics of myeloid diseasep. 38
Chromosome rearrangementsp. 38
Numerical abnormalities; trisomiesp. 50
Numerical abnormalities: monosomyp. 50
Deletionsp. 51
The role of chromosome analysis in myeloid diseasep. 54
Referencesp. 55
Cytogenetics in acute lymphoblastic leukaemiap. 57
Introductionp. 57
Preparation of bone marrow samples from acute lymphoblastic leukaemia patientsp. 59
Optimizing cell density in cultures from patients with a high white cell countp. 59
Analysis guidelinesp. 59
Classification of acute lymphoblastic leukaemiap. 60
French-American-British classification systemp. 61
Cytochemistryp. 62
Immunologyp. 63
Cellular differentiationp. 65
Morphology-Immunology-Cytogenetics classificationp. 67
Structural chromosome abnormalitiesp. 67
t(8;14)(q24;q32), t(2;8)(p12;q24) and t(8;22)(q24;q11)p. 67
t(1;19)(q23;p13)p. 69
T-lineage ALLp. 70
Deletion of 6qp. 73
Abnormalities of 9pp. 73
t(9;22)(q34;q11)p. 75
Abnormalities of 11q23 involving the MLL genep. 76
t(12;21)(p12-13;q22)p. 79
Numerical abnormalitiesp. 80
High hyperdiploidy with ] 50 chromosomesp. 81
Near-haploidyp. 81
Severe hypodiploidyp. 83
Summaryp. 83
Acknowledgementsp. 83
Referencesp. 84
Further readingp. 85
The lymphomas and chronic lymphoid leukaemiasp. 87
Introductionp. 87
Lymphomasp. 87
Culture of samples from lymphoma patientsp. 87
Classification of lymphomasp. 91
Specific chromosomal changes in non-Hodgkin's lymphomasp. 93
Chromosomal changes in Hodgkin's diseasep. 101
Chronic B- and T-lymphoid leukaemiasp. 101
Preparative techniquesp. 102
Specific chromosomal abnormalitiesp. 104
Acknowledgementsp. 107
Referencesp. 107
The role of cytogenetics in the diagnosis and classification of haematological neoplasmsp. 111
Introductionp. 111
Information that can be gained from cytogenetic analysisp. 111
Evidence of clonality and thus presumptive evidence of neoplasiap. 112
Evidence as to which cell lineages are part of the neoplastic clonep. 114
Confirmation of a diagnosisp. 115
Information relevant to prognosisp. 116
Demonstration of the close relationship of apparently different diseasesp. 117
Demonstration of a constitutional abnormality underlying the occurrence of neoplasiap. 118
Demonstration of the likely sites of oncogenes and cancer suppressing genesp. 118
Demonstration that an apparently acquired disease has an intrauterine originp. 119
Demonstration of the likely etiological agent in therapy-related neoplasmsp. 119
Confirmation of the nature of transient abnormal myelopoiesis in Down syndromep. 119
Demonstration of a specific cytogenetic abnormality that permits subsequent molecular genetic monitoring for detection of minimal residual diseasep. 120
Evidence of disease regressionp. 121
Evidence of disease recrudescence or evolutionp. 121
Evidence of engraftment following stem cell transplantationp. 121
Distinction between relapse and either a secondary therapy-related neoplasm or leukaemia of donor cellsp. 121
The role of cytogenetic analysis in the classification of haematological neoplasmsp. 123
Relationship between the cytogeneticist and the haematologistp. 127
Molecular cytogenetic technologiesp. 129
Introductionp. 129
Basic fluorescence in situ hybridization protocolsp. 130
Multicolour fluorescence in situ hybridizationp. 137
Multiplex fluorescence in situ hybridization and spectral karyotypingp. 137
Colour 'bar codes'p. 137
Chromosome-specific subtelomeric probesp. 138
Combinatorial labelling of probes for multiplex fluorescence in situ hybridizationp. 138
Multiplex fluorescence in situ hybridization imaging and analysisp. 141
Interphase fluorescence in situ hybridizationp. 142
Types of probe for interphase fluorescence in situ hybridizationp. 142
Types of target for interphase fluorescence in situ hybridizationp. 143
Combined immunophenotyping and fluorescence in situ hybridizationp. 147
RNA-fluorescence in situ hybridizationp. 148
Establishing cut-off levelsp. 150
Commercial probes for interphase fluorescence in situ hybridizationp. 150
Comparative genomic hybridizationp. 152
Introductionp. 152
Preparation of targetsp. 153
Probe labellingp. 154
Hybridizationp. 155
Analysisp. 157
Guidelines for fluorescence in situ hybridization in diagnostic laboratoriesp. 158
Chronic myeloid leukaemiap. 158
Acute myeloid leukaemiap. 159
Myelodysplastic syndromes/myeloproliferative diseasep. 159
Childhood acute lymphoblastic leukaemiap. 160
Acknowledgementsp. 161
Referencesp. 161
Methods in solid tumour cytogeneticsp. 165
Introductionp. 165
Logistics of tumour samplingp. 165
Application of cytogenetic analysis of human neoplasmsp. 167
Techniques in solid tumour cytogeneticsp. 168
Xenograftsp. 168
Long-term culturesp. 168
Direct chromosome preparationsp. 169
Short-term culturesp. 171
Tissue samplesp. 172
Preparing tumour samples for culturingp. 172
Culture media and additivesp. 179
Maintenance of culturesp. 181
Harvest of culturesp. 184
Pretreatment of cultures for long chromosomesp. 185
Mitotic arrestp. 186
Hypotonic treatmentp. 186
Chromosome preparationsp. 188
Treatment of slides prior to bandingp. 190
Chromosome stainingp. 191
Analysis of chromosome preparationsp. 193
Karyotyping, interpretation and descriptionp. 194
Nomenclaturep. 196
Chromosome aberrations in solid tumoursp. 197
Significance of the study of genetic changesp. 201
Acknowledgementsp. 202
Referencesp. 203
In vivo mutagen-induced chromosome damage in human lymphocytesp. 205
Introductionp. 205
Principles of lymphocyte culture for aberration and sister chromatid exchange analysisp. 205
Lymphocyte culturep. 206
Staining techniquesp. 207
Structural chromosome aberrationsp. 210
Lymphocyte culture for aberration analysisp. 212
Aberration analysis with block stainingp. 213
Aberration analysis using fluorescence in situ hybridizationp. 214
Sister chromatid exchangep. 216
Culture factors influencing sister chromatid exchange frequencyp. 216
Sister chromatid exchange scoringp. 216
Micronucleip. 217
Lymphocyte culture for micronucleus determinationp. 217
Scoring of micronucleip. 219
Radiation dosimetryp. 220
The dose responsep. 220
Blood sampling, culturing and slide preparationp. 221
Aberration scoring and dose estimation for acute recent exposuresp. 221
Retrospective dosimetryp. 222
Population monitoringp. 222
Setting up the studyp. 223
Blood sampling, culturing and slide preparationp. 224
Chromosome aberration analysisp. 224
Sister chromatid exchange analysisp. 224
Micronucleus analysisp. 224
Referencesp. 225
Chromosome instability syndromesp. 227
Introductionp. 227
Safe use of mutagenic chemicalsp. 228
Diseases for which chromosome analysis is used diagnosticallyp. 229
Ataxia telangiectasiap. 229
Nijmegen breakage syndromep. 235
Bloom syndromep. 236
Fanconi anaemiap. 239
ICF syndromep. 247
Roberts syndromep. 248
Dominantly inherited premature centromere divisionp. 250
Werner syndromep. 250
Other syndromes displaying chromosome instabilityp. 250
Xeroderma pigmentosump. 250
Cockayne syndromep. 251
Trichothiodystrophyp. 252
Rothmund Thomson syndromep. 252
Acknowledgementp. 252
Referencesp. 253
Further readingp. 253
List of suppliersp. 255
Safety considerationsp. 265
Ideograms of G-banded chromosomes at three levels of resolutionp. 269
Glossaryp. 275
Indexp. 283
Table of Contents provided by Syndetics. All Rights Reserved.

ISBN: 9780199638420
ISBN-10: 019963842X
Series: Practical Approach Series
Audience: Professional
Format: Hardcover
Language: English
Number Of Pages: 306
Published: 1st February 2001
Country of Publication: GB
Dimensions (cm): 25.3 x 19.4  x 2.3
Weight (kg): 0.86
Edition Number: 3
Edition Type: Revised