Cover -- Half-title -- Title -- Copyright -- Dedication -- Contents -- Contributors -- Preface -- Part 1 Diagnostic techniques -- 1 Morphology -- Peripheral blood -- Blood film features of hematological malignancies -- Cytopenias and pancytopenia -- Leukoerythroblastic blood film -- Leukocyte morphology -- Erythroid cell morphology -- Platelet morphology -- Role of the blood film -- Reporting the blood film -- Bone marrow examination -- Bone marrow aspirate -- Cytochemical stains -- Interpretation and reporting the bone marrow aspirate -- Bone marrow trephine biopsy -- Interpretation and reporting the bone marrow trephine biopsy -- Integrated bone marrow reporting -- Applications of bone marrow aspirates and trephine biopsies -- Diagnosis and staging: examples -- Post-therapy assessment and disease monitoring: examples -- Conclusion -- References -- 2 Immunocytochemistry -- Monoclonal antibodies -- Hematopoietic cell differentiation and antigen expression -- B-cell differentiation -- T-cell differentiation -- Natural-killer cells -- Myeloid differentiation and antigen expression -- Antibodies for immunocytochemistry -- Immunocytochemical techniques -- Antibody labels -- Fluorescent labels -- Enzyme labels -- Technical aspects of immunocytochemistry -- Double and triple staining -- Samples -- Positive and negative controls -- Interpretation of immunocytochemistry -- Pitfalls and limitations of immunocytochemistry -- Standardization and automation -- Applications of immunocytochemistry to hematological malignancies -- Blood and bone marrow smears -- Bone marrow trephines -- Conclusion -- Acknowledgments -- References -- 3 Flow cytometry -- Introduction -- Principles of flow cytometry -- Light scatter -- Fluorochromes -- Compensation -- Number of events -- Gating -- Interpretation of flow cytometry -- Reporting flow cytometry.

Indications for flow cytometry of hematological malignancies -- Specimens and processing -- Specimen types -- Anticoagulation -- Specimen storage -- Cell viability -- Specimen processing -- Membrane permeabilization -- Antibody incubation -- Controls -- Antibody panels -- Flow cytometric analysis of hematological malignancies -- Acute leukemia -- Precursor lymphoid neoplasms -- Acute myeloid leukemia -- Acute leukemias of ambiguous lineage -- Mature B-cell neoplasms -- Plasma cell disorders -- Mature T-bell neoplasms -- Mature natural-killer (NK)-cell neoplasms -- Myeloproliferative neoplasms and myelodysplastic syndromes -- Myeloproliferative neoplasms -- Myelodysplastic syndromes -- Conclusion -- Acknowledgments -- References -- 4 Cytogenetics -- Introduction -- Principles of methods -- Cytogenetics -- Fluorescence in situ hybridization (FISH) -- Dual color breakapart probes -- Dual color, dual fusion probes -- Copy number probes -- High resolution arrayased analysis -- Multiplex ligation-dependent probe amplification (MLPA) -- Real-time quantitative polymerase chain reaction -- Examples of the role of cytogenetics in hematological malignancies -- B-cell precursor acute lymphoblastic leukemia -- MLL gene rearrangements -- t(922)(q34q11) BCR-BL1 -- t(1221)(p13q22) ETV6-UNX1 -- t(119)(q23p13.3) TCF3-BX1 -- (514)(q31q32) IGH@-L3 -- High hyperdiploidy (51-65 chromosomes) -- Hypodiploidy -- Other abnormalities in BCP-LL -- T-cell precursor acute lymphoblastic leukemia -- Acute myeloid leukemia with recurrent genetic abnormalities -- t(821)(q22q22) RUNX1-UNX1T1 -- inv(16)(p13q22) or t(1616)(p13q22) CBFB-MYH11 -- t(1517)(q22q21) PML-RARA -- t(911)(p21q23) MLL-MLLT3 -- t(69)(p22q34) DEK-MUP214 -- inv(3)(q21q26.2) or t(33)(q21q26.2) RPN1-EVI1 -- t(122)(p13q13) RBM15-MKL1 -- Complex karyotypes -- Myeloproliferative neoplasms.

Chronic myelogenous leukemia, BCR-ABL1 positive -- Other BCR-ABL1 negative myeloproliferative neoplasms -- Myeloid0 and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB and FGFR1 -- Myelodysplastic syndromes -- 5q-syndrome -- Juvenile myelomonocytic leukemia -- Conclusion -- References -- 5 Molecular genetics -- Introduction -- Polymerase chain reaction -- Principles of PCR amplification -- The DNA template -- DNA polymerase -- Primers -- MgCl2 concentration -- Deoxynucleoside triphosphates -- The PCR method -- Avoiding contamination -- Data interpretation -- Gel electrophoresis -- Pyrosequencing -- Melting curve analysis -- Other gelased techniques -- Limitations of end-point analysis for interpretation of PCR -- Clinical examples of the application of PCR -- Lymphoid cell clonality -- JAK2 V617F mutation analysis -- Reverse transcription PCR (RT-PCR) -- Principles of RT-PCR -- Data interpretation -- Clinical examples of the application of RT-PCR -- Detection of BCR-ABL1 -- Detection of t(821) RUNX1-RUNX1T1 and inv(16) CBFB-MYH11 in acute myeloid leukemia -- NPM1 and FLT3 mutations in acute myeloid leukemia -- Real-time quantitative PCR -- Principles of the technique -- Data interpretation -- Clinical examples of the application of RQ-PCR -- BCR-ABL1 quantitation in chronic myeloid leukemia -- PML-RARA quantitation in acute promyelocytic leukemia -- Gene expression analysis -- Principles of gene expression arrays -- Data interpretation -- Clinical examples of gene expression arrays -- Leukemia classification -- Prediction of prognosis and therapeutic response -- Other molecular genetic test types -- Conclusion -- References -- Part 2 Hematological malignancies -- 6 The integrated approach to the diagnosis of.hematological malignancies -- What is an integrated hemato-oncology diagnostic service?.

Why do we need integrated hemato-oncology diagnostic services? -- Scientific advances -- WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues -- Modern clinical hematoncology practice -- National guidelines and regulations -- How does an integrated hemato-oncology diagnostic service work? -- Sample receipt, triage and analysis -- The diagnostic sample -- Follow-up and disease monitoring -- Requirements for an integrated hematoncology diagnostic service -- Morphology -- Phenotyping -- Cytogenetics -- Molecular genetics -- The integrated report -- Information technology -- Communication with clinicians -- Other activities of a hemato-oncology diagnostic service -- Quality assurance, audit and governance -- Service improvement and technology development -- Research and development -- Staff, education and training -- Advantages of the integrated approach to hematoncology diagnostics -- Conclusion -- References -- 7 Acute lymphoblastic leukemia -- Introduction -- General laboratory features at presentation -- Investigations to make the diagnosis and determine prognosis -- General principles -- Morphology and cytochemistry -- Central nervous system leukemia -- Immunophenotyping -- B-lineage ALL -- T-lineage ALL -- Cytogenetics and molecular genetics -- ALL with BCR-ABL1 -- ALL with MLL gene rearrangements -- ALL with TEL-AML1 (ETV6-UNX1) -- Hyperdiploid and hypodiploid ALL -- ALL with E2A-PBX1 (TCF3-BX1) -- Novel subtypes of B-lineage ALL identified by genome-wide screens -- Genetic subtypes of T-lineage ALL -- Studies at diagnosis to identify markers for disease monitoring -- Immunophenotyping -- Molecular genetics -- Monitoring treatment response and disease progression -- General principles -- Practical considerations for minimal residual disease studies -- Flow cytometry -- Molecular genetics.

Flow cytometry versus molecular genetics: which test to perform? -- Blood versus bone marrow: which sample to use? -- Prognostic significance of minimal residual disease in childhood ALL -- Prognostic significance of minimal residual disease in adult ALL -- Feasibility of minimal residual disease testing for routine risk classification -- Concluding comments -- Acknowledgments -- References -- 8 Acute myeloid leukemia -- Introduction -- Molecular basis of AML -- Chromosomal abnormalities in AML -- Molecular genetics of AML -- Factors predisposing to AML -- Classification of AML -- Investigations to diagnose AML -- Morphological assessment of peripheral blood and bone marrow -- Immunophenotyping -- Cytogenetic analysis -- Routine molecular diagnostics -- Molecular screening for chimeric fusion genes -- Mutation screening -- Establishing baseline disease status -- Investigations for risk stratification, determining prognosis and treatment approach -- Routine investigations -- Investigational assays -- Disease monitoring: detection of minimal residual disease -- Laboratory assessment of relapsed disease and in patients undergoing stem cell transplantation -- Concluding remarks -- Acknowledgments -- References -- 9 Mature B-cell leukemias -- Introduction -- Chronic lymphocytic leukemia -- Clinical example -- Clinical example -- Establishing the diagnosis -- Monoclonal Bell lymphocytosis -- Staging and prognostication -- Clinical example -- International response criteria -- Clinical example -- Minimal residual disease -- B-cell prolymphocytic leukemia -- Clinical example -- Establishing the diagnosis -- Staging and prognostication -- Hairy cell leukemia -- Clinical example -- Clinical example -- Establishing the diagnosis -- Staging and prognostication -- Hairy cell leukemia variant -- Leukemic phase of mature B-cell lymphomas -- Follicular lymphoma.

Mantle cell lymphoma.