Rare Hematological Malignancies (eBook)

Preface 6
Contents 7
Contributors 9
Polycythemia Vera and Other Polycythemia Syndromes 11
1.1 Introduction 11
1.2 Definitions 11
1.3 Presenting Signs and Symptoms 12
1.4 Physical Findings 13
1.5 Hematologic Manifestations 13
1.6 Hyperuricemia 14
1.7 Natural History 14
1.8 Diagnostic Tests 15
1.9 Differential Diagnosis of Polycythemia Vera 22
1.10 Treatment of Polycythemia Vera 23
1.11 The Nature of the Response to rIFN-a and Imatinib 30
1.12 Treatment of Other Aspects of PV 31
1.13 Summary 32
1.14 Conclusion 33
References 33
Primary Myelofibrosis 38
2.1 Introduction 38
2.2 Historical Perspective and Disease Classification 38
2.3 Epidemiology 40
2.4 Pathogenesis 41
2.5 Clinical Features and Diagnosis 43
2.6 Differential Diagnosis 45
2.7 Clinical Course and Prognosis 46
2.8 Management 47
2.9 Conclusions 52
References 52
Essential Thrombocythemia 59
3.1 Introduction 59
3.2 Pathogenesis 59
3.3 Diagnostic Criteria 60
3.4 Clinical Course 63
3.5 Risk-Adapted Therapy 66
3.6 Personal Approach to Therapy 71
References 72
Chronic Eosinophilic Leukemia/ Hypereosinophilic Syndrome 77
4.1 Introduction 77
4.2 Definition of Eosinophilia 77
4.3 Eosinophil Biology 78
4.4 Nomenclature 78
4.5 Epidemiology 83
4.6 Laboratory and Morphology Assessment of Hypereosinophilia 83
4.7 Clinico-Pathologic Manifestations 83
4.8 Prognosis 85
4.9 Reactive and Clonal Eosinophilia Associated with Hematologic Malignancies 86
4.10 Molecularly Characterized Bone Marrow Eosinophilic Disorders: PDGFRA- and PDGFRB- Rearranged 86
4.11 Eosinophilia Associated with Rearrangements of ETV6 at 12p13 95
4.12 Eosinophilia Associated with Rearrangements of JAK2 at 9p24 96
4.13 Fibroblast Growth Factor Receptor 1 (FGFR1) Fusions 96
4.14 T-Cell-Mediated (Lymphocyte-Variant) Hypereosinophilia 97
4.15 Treatment 98
4.16 A Diagnostic, Classification, and Treatment Algorithm for Hypereosinophilia 101
4.17 Summary 103
References 103
Chronic Myelomonocytic Leukemia 115
5.1 Definition and Classification 115
5.2 Ethiology and Epidemiology 116
5.3 Clinical Features 117
5.4 Laboratory Features and Differential Diagnosis 117
5.5 Pathophysiology and Biology 119
5.6 Natural History and Risk Assessment/ Stratification 124
5.7 Management and Treatment Options 126
5.8 Future Directions 132
References 133
The 5q– Syndrome 141
6.1 Introduction 141
6.2 Classification 142
6.3 Clinical and Morphological Features 145
6.4 Laboratory Values 145
6.5 Cytogenetics 146
6.6 Molecular Genetics 146
6.7 Prognosis 147
6.8 Therapy 149
6.9 Conclusion 153
References 154
Rare Acute Leukemias 157
7.1 Introduction 157
7.2 Acute Erythroid Leukemia 158
7.3 Acute Megakaryoblastic Leukemia 171
7.4. Acute Basophilic Leukemia 185
References 189
Hairy Cell Leukemia 200
8.1 Introduction 200
8.2 Historical Perspectives 200
8.3 Epidemiology 201
8.4 Pathogenesis and Biology 201
8.5 Pathology and Immunophenotypic Analysis 202
8.6 Differential Diagnosis 204
8.7 Clinical Manifestations 206
8.8 Indications for Treatment 206
8.9 Cladribine 207
8.10 Pentostatin 208
8.11 Interferon 209
8.12 Splenectomy 209
8.13 Relapsed or Refractory Disease 210
8.14 Minimal Residual Disease 211
8.15 Summary 211
References 212
Waldenstrom’s Macrogloblinemia/ Lymphoplasmacytic Lymphoma 217
9.1 Introduction 217
9.2 Epidemiology and Etiology 217
9.3 Biology 218
9.4 Clinical Features 219
9.5 Morbidity Mediated by the Effects of IgM 220
9.6 Laboratory Investigations and Findings 226
9.7 Prognosis 228
9.8 Treatment of Waldenström’s Macroglobulinemia 228
9.9 Front-Line Therapy 229
9.10 Salvage Therapy Including Novel Agents 234
9.11 High-Dose Therapy and Stem Cell Transplantation 238
9.12 Response Criteria in Waldenstrom’s Macroglobulinemia 239
References 240
Rare B-cell Lymphomas 249
10.1 Introduction 249
10.2 Primary Mediastinal Large B-Cell Lymphoma 249
10.3 Intravascular Lymphoma 262
10.4 Primary Effusion Lymphoma 266
References 268
Lymphomatoid Granulomatosis 271
11.1 Introduction 271
11.2 Pathogenesis 271
11.3 Clinical Features 272
11.4 Diagnosis 274
11.5 Prognosis 277
11.6 Therapy 277
11.7 Conclusions 277
References 278
Posttransplant Lymphoproliferative Disorders 279
12.1 Introduction 279
12.2 Incidence 280
12.3 Clinical Presentation of PTLD 280
12.4 Etiology of PTLD 281
12.5 Origin of PTLD 281
12.6 Classification 282
12.7 Surveillance for Early Detection and Prevention Strategies 283
12.8 Early and Late PTLD 283
12.9 Risk Factors for Developing PTLD 284
12.10 Risk Factors for Surviving PTLD 285
12.11 Prophylactic Approaches to PTLD 286
12.12 The Treatment of PTLD 286
12.13 A Clinicopathologic Approach to PTLD 290
12.14 Future Directions 291
12.15 Outcomes of PTLD 291
12.16 Conclusion 291
References 292
Castleman Disease 299
13.1 Introduction 299
13.2 Epidemiology 301
13.3 Pathogenesis/Pathology 301
13.4 Clinical Presentation 312
13.5 Treatment 319
13.6 Conclusions 327
References 327
Rare T-Cell Lymphomas 337
14.1 Introduction 337
14.2 Enteropathy-type T-Cell lymphoma 338
14.3 Hepatosplenic T-Cell Lymphoma 341
14.4 Subcutaneous Panniculitis-like T-Cell lymphoma and Cutaneous gd T-Cell Lymphoma 344
14.5 Summary 347
References 348
CD30+ Diseases 354
15.1 Introduction 354
15.2 The CD30 Antigen 354
15.3 Anaplastic Large-Cell Lymphoma 357
15.4 Primary Cutaneous CD30-Positive T-cell Lymphoproliferative Disorders 364
References 367
Nodular Lymphocyte Predominant Hodgkin’s Lymphoma 371
16.1 Introduction 371
16.2 Pathology 371
16.3 Epidemiology and Staging 374
16.4 Treatment: Front Line 375
16.5 Treatment: Relapsed 380
16.6 Follow-up Surveillance 381
16.7 Transformation: Pathology, Diagnosis, and Treatment 381
16.8 Summary and Conclusions 383
References 383
Langerhans Cell Histiocytosis 386
17.1 Introduction 386
17.2 Epidemiology 386
17.3 Etiology 387
17.4 Clinical Features 389
17.5 Diagnosis and Pathology 391
17.6 Differential Diagnosis 395
17.7 Treatment 396
17.8 Clinical Course 398
References 398
Systemic Mastocytosis 402
18.1 Introduction 402
18.2 Biology of Mast Cells 402
18.3 Pathogenesis of Mastocytosis 403
18.4 Diagnostic Criteria and WHO Classification 405
18.5 Histology and Immunohistochemistry (Major Criterion) 406
18.6 Minor Diagnostic Criteria for SM 407
18.7 Categories and Subvariants of Mastocytosis and Current Therapy Options 410
18.8 Concluding Remarks 416
References 416
Index 423