Blood Cancer

Preface xi

1 Introduction to Blood Cancer 1
1.1 Fundamental Aspects of Blood 1
1.2 Tools for Investigating Blood Cancer 6
1.2.1 Haematology 6
1.3 A Historical Perspective of Blood Cancer 11
1.4 The Molecular Pathology of Cancer 15
1.5 Chapter Summary 23

2 Methods in Molecular Pathology 24
2.1 First-generation Techniques 25
2.2 Next-generation Sequencing 32
2.3 Third-generation Sequencing 39
2.4 Chapter Summary 42

3 Molecular Pathology of the Myeloid Lineage: Part 1 43
3.1 The Classification of Myeloid Neoplasms 44
3.2 Acute Myeloid Leukaemia (AML) 46
3.3 Acute Promyelocytic Leukaemia (APL) 50
3.4 Chronic Myeloid Leukaemia (CML) 51
3.5 Chronic Neutrophilic Leukaemia (CNL) 53
3.6 Myelomonocytic Leukaemia (MML) 53
3.7 Monocytic Leukaemia 55
3.8 Histiocytic/Dendritic Cell Neoplasms 55
3.9 Chapter Summary 57

4 Molecular Pathology of the Myeloid Lineage: Part 2 59
4.1 Eosinophilic, Basophilic and Mast Cell Neoplasms 59
4.2 Myelofibrosis and Myelodysplastic Neoplasms 61
4.3 The Erythroid Lineage 64
4.4 The Megakaryocyte Lineage 67
4.5 The Molecular Pathology of PV, MF and ET 70
4.6 Chapter Summary 71

5 Molecular Pathology of the Lymphoid Lineage 73
5.1 Lymphomas 73
5.2 Lymphocytic Leukaemias 77
5.3 Myeloma and Related Conditions 82
5.4 Chapter Summary 86
5.5 A Summary of Molecular Pathology of the Blood Cancers 87

6 An Introduction to Clinical Blood Cancer 89
6.1 Presentation of the Patient 89
6.2 Leading Diagnostic Tools 91
6.3 Treatments of Blood Cancer 95
6.4 Chapter Summary 101

7 Diagnosis and Management of Myeloid Neoplasms 102
7.1 The Aetiology of Myeloid Neoplasms Revisited 102
7.2 Acute Myeloid Leukaemia (AML) 103
7.3 Acute Promyelocytic Leukaemia (APL) 108
7.4 Chronic Myelocytic Leukaemia (CML) 110
7.5 Chronic Neutrophilic Leukaemia (CNL) 112
7.6 Eosinophilic, Basophilic and Mast Cell Neoplasms 113
7.7 Monocytic Leukaemia 116Contents ix
7.8 Myelomonocytic Leukaemia (MML) 118
7.9 Histiocytic and Related Neoplasms 120
7.10 Myelofibrosis and Myelodysplastic Neoplasms (MDS) 122
7.11 The Erythroid Lineage 124
7.12 The Megakaryocyte Lineage 126
7.13 Chapter Summary 127

8 Diagnosis and Management of Lymphoid Neoplasms 129
8.1 General Concepts in Lymphoma 129
8.2 Hodgkin Lymphoma 131
8.3 Non-Hodgkin Lymphoma (NHL) 132
8.4 Acute Lymphoblastic Leukaemia (ALL) 138
8.5 Chronic Lymphocytic Leukaemia (CLL) 142x Contents
8.6 Myeloma and Related Conditions 146
8.7 Chapter Summary 153

References 153
Case Study 154
Multiple Choice Questions 166
Answers to Multiple Choice Questions 174
Appendix A: Analysis of Genes and Chromosomal Abnormalities 178
Subject Index 181
Genes Index 185
Fused Genes 189
Chromosomal Abnormalities 190