Laboratory diagnosis of haematological neoplasms
Barbara J Bain
Centre for Haematology, Department of Immunology and Inflammation, St Mary's Hospital, London, UK
Search for more papers by this authorTorsten Haferlach
MLL Munich Leukemia Laboratory, Munich, Germany
Search for more papers by this authorBarbara J Bain
Centre for Haematology, Department of Immunology and Inflammation, St Mary's Hospital, London, UK
Search for more papers by this authorTorsten Haferlach
MLL Munich Leukemia Laboratory, Munich, Germany
Search for more papers by this authorAdam J Mead PhD, FRCP, FRCPath, FMedSci
Haematopoietic Stem Cell Biology Laboratory, Medical Research Council Molecular Haematology Unit, Medical Research Council Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK
Search for more papers by this authorMichael A Laffan DM, MRCP, FRCPath
Department of Immunology and Inflammation, Faculty of Medicine, Imperial College London, London, UK
Search for more papers by this authorGraham P Collins DPhil, FRCP, FRCPath
Department of Haematology, Oxford Cancer and Haematology Centre, Oxford, UK
Search for more papers by this authorDeborah Hay DPhil, MRCP, FRCPath
Nuffield Division of Clinical Laboratory Sciences, Radcliffe Department of Medicine, University of Oxford, Oxford, UK
Search for more papers by this authorA Victor Hoffbrand MA, DM, FRCP, FRCPath, FRCP (Edin), DSc, FMedSci
Emeritus Professor of Haematology Honorary Consultant Haematologist
University College London, London, UK
Royal Free Hospital, London, UK
Search for more papers by this authorSummary
This chapter deals with the laboratory diagnosis of haematological neoplasms, specifically leukaemias and lymphomas, myelodysplastic syndromes, myeloproliferative and myelodysplastic/myeloproliferative neoplasms and multiple myeloma. It includes consideration of the blood count, blood film and bone marrow aspirate assessment, cytochemistry, trephine biopsy histology, immunophenotyping (both flow cytometry and immunohistochemistry) and cytogenetic and molecular analysis including fluorescence in situ hybridization.
Selected bibliography
- Alcalay M , Tiacci E , Bergomas R et al . ( 2005 ) Acute myeloid leukaemia bearing cytoplasmic nucleophosmin (NPMc+ AML) shows a distinct gene expression profile characterized by up-regulation of genes involved in stem-cell maintenance . Blood 106 : 899 – 902 .
- Bain BJ , Leach M ( 2021 ) Immunophenotyping for Haematologists: Principles and Practice . Wiley-Blackwell , Oxford .
-
Bain BJ
,
Leach M
(
2024
)
Leukaemia Diagnosis
,
6th edition
.
Wiley-Blackwell
,
Oxford
.
10.1002/9781394218615 Google Scholar
-
Bain BJ
,
Clark DM
,
Wilkins BS
(
2019
)
Bone Marrow Pathology
,
5th edition
.
Wiley-Blackwell
,
Oxford
.
10.1002/9781119398929 Google Scholar
- Cools J , DeAngelo DJ , Gotlib J et al . ( 2003 ) A tyrosine kinase created by the fusion of the PDGFRA and FIP1L1 genes as a therapeutic target of imatinib in idiopathic hypereosinophilic syndrome . New England Journal of Medicine 348 : 1201 – 14 .
- deJong D , Xie W , Rosenwald A et al . ( 2009 ) Immunohistochemical prognostic markers in diffuse large B-cell lymphoma: validation of tissue microarray as a prerequisite for broad clinical applications . Journal of Clinical Pathology 62 : 128 – 38 .
- Falini B , Mecucci C , Tiacci E et al . ( 2005 ) Cytoplasmic nucleophosmin in acute myelogenous leukaemia with a normal karyotype . New England Journal of Medicine 352 : 254 – 66 .
- Gleissner B , Küppers R , Siebert R et al . ( 2008 ) Report of a workshop on malignant lymphoma: a review of molecular and clinical risk profiling . British Journal of Haematology 142 : 166 – 78 .
- Grossmann V , Schnittger S , Kohlmann A et al . ( 2012 ) A novel hierarchical prognostic model of AML solely based on molecular mutations . Blood 120 : 2963 – 72 .
- Haferlach C , Dicker F , Schnittger S et al . ( 2007 ) Comprehensive genetic characterization of CLL: a study on 506 cases analysed with chromosome banding analysis, interphase FISH, IgV(H) status and immunophenotyping . Leukemia 21 : 2442 – 51 .
- James C , Ugo V , Le Couédic JP et al . ( 2005 ) A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera . Nature 434 : 1144 – 8 .
- Kohlmann A , Grossmann V , Nadarajah N , Haferlach T ( 2013 ) Next-generation sequencing: feasibility and practicality in haematology . British Journal of Haematology 160 : 736 – 53 .
-
Leach M
,
Drummond M
,
Doig A
et al
. (
2015
)
Practical Flow Cytometry in Haematology: 100 worked examples
.
Wiley-Blackwell
,
Oxford
.
10.1002/9781118746950 Google Scholar
- Lenz G , Wright G , Dave SS et al . ( 2008 ) Stromal gene signatures in large B-cell lymphomas . New England Journal of Medicine 359 : 2313 – 23 .
- Maciejewski JP , Mufti GJ ( 2008 ) Whole genome scanning as a cytogenetic tool in hematologic malignancies . Blood 112 : 965 – 74 .
- Rosenwald A , Wright G , Chan WC et al . ( 2002 ) The use of molecular profiling to predict survival after chemotherapy for diffuse large B-cell lymphoma . New England Journal of Medicine 346 : 1937 – 47 .
- Schlenk RF , Döhner K , Krauter J et al . ( 2008 ) Mutations and treatment outcome in cytogenetically normal acute myeloid leukaemia . New England Journal of Medicine 358 : 1909 – 18 .
- Song MK , Chung J-S , Shin D-H et al . ( 2009 ) Prognostic significance of the Bcl-2 negative germinal centre in patients with diffuse large B lymphoma treated with R-CHOP . Leukemia and Lymphoma 50 : 54 – 61 .
- Swerdlow SH , Campo E , Harris NL et al . ( 2017 ) WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues , revised 4th Edition . IARC .