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Leukaemia Diagnosis

Wiley-Blackwellerschienen am01.07.2017
From the bestselling author, Barbara J. Bain, the new edition of this practical reference on the principles of leukaemia diagnosis and classification has been fully updated, and incorporates the recently revised WHO classification.
Leukaemias are a very heterogeneous group of diseases, which differ from each other in aetiology, pathogenesis, prognosis and responsiveness to treatment. Accurate diagnosis and classification are vital for the identification of specific biological entities and underpin scientific advances in this field. The detailed characterization of haematological neoplasms is also essential for the optimal management of individual patients.
In this user-friendly guide, Professor Bain illustrates and explains how these many laboratory techniques are used for the diagnosis and classification of leukaemia and related disorders. Leukaemia Diagnosis, Fifth Edition will be highly valuable to trainee haematologists and laboratory scientists in haematology and related disciplines, and will also prove a useful reference source and teaching aid for those who already have expertise in this field. In addition, cytogeneticists and molecular geneticists will find that this book enhances their understanding of the relationship of their disciplines to the diagnosis, classification and monitoring of leukaemia and related disorders.
Essential reading for every haematologist and haematopathologist, Leukaemia Diagnosis, Fifth Edition features Over 300 high quality full colour digital images of abnormal cells in leukaemia and lymphoma supplemented by histological, cytogenetic and immunophenotyping images
Recent information on cytogenetic and molecular genetic abnormalities in leukaemia
Updated information on the characteristic immunophenotypic characteristics of different categories of leukaemia




Barbara J. Bain, MB BS, FRACP, FRCPath, Professor of Diagnostic Haematology, St Mary's Hospital Campus, Imperial College London Faculty of Medicine, and Honorary Consultant Haematologist, St Mary's Hospital, London, UKmehr
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Produkt

KlappentextFrom the bestselling author, Barbara J. Bain, the new edition of this practical reference on the principles of leukaemia diagnosis and classification has been fully updated, and incorporates the recently revised WHO classification.
Leukaemias are a very heterogeneous group of diseases, which differ from each other in aetiology, pathogenesis, prognosis and responsiveness to treatment. Accurate diagnosis and classification are vital for the identification of specific biological entities and underpin scientific advances in this field. The detailed characterization of haematological neoplasms is also essential for the optimal management of individual patients.
In this user-friendly guide, Professor Bain illustrates and explains how these many laboratory techniques are used for the diagnosis and classification of leukaemia and related disorders. Leukaemia Diagnosis, Fifth Edition will be highly valuable to trainee haematologists and laboratory scientists in haematology and related disciplines, and will also prove a useful reference source and teaching aid for those who already have expertise in this field. In addition, cytogeneticists and molecular geneticists will find that this book enhances their understanding of the relationship of their disciplines to the diagnosis, classification and monitoring of leukaemia and related disorders.
Essential reading for every haematologist and haematopathologist, Leukaemia Diagnosis, Fifth Edition features Over 300 high quality full colour digital images of abnormal cells in leukaemia and lymphoma supplemented by histological, cytogenetic and immunophenotyping images
Recent information on cytogenetic and molecular genetic abnormalities in leukaemia
Updated information on the characteristic immunophenotypic characteristics of different categories of leukaemia




Barbara J. Bain, MB BS, FRACP, FRCPath, Professor of Diagnostic Haematology, St Mary's Hospital Campus, Imperial College London Faculty of Medicine, and Honorary Consultant Haematologist, St Mary's Hospital, London, UK
Details
Weitere ISBN/GTIN9781119210504
ProduktartE-Book
EinbandartE-Book
FormatEPUB
Erscheinungsjahr2017
Erscheinungsdatum01.07.2017
Seiten576 Seiten
SpracheEnglisch
Dateigrösse58791
Artikel-Nr.3304408
Rubriken
Genre9201

Inhalt/Kritik

Leseprobe
1
The Nature of Leukaemia, Cytology, Cytochemistry and the Morphological Classification of Acute Leukaemia
CHAPTER MENU
The nature of leukaemia
The aetiology of leukaemia
The importance of classification
The nature and classification of acute leukaemia
The nature and classification of the myelodysplastic syndromes
The nature and classification of chronic myeloid leukaemias and myelodysplastic/myeloproliferative neoplasms
The nature and classification of lymphoid neoplasms
Defining a blast cell, a promyelocyte and a promonocyte
The FAB classification of acute leukaemia Diagnosing acute leukaemia
Distinguishing between acute myeloid and acute lymphoblastic leukaemias
Defining remission
The incidence of acute leukaemia

The FAB categories and other morphological categories of acute myeloid leukaemia Acute myeloid leukaemia with minimal evidence of myeloid differentiation: M0 acute myeloid leukaemia
Acute myeloid leukaemia without maturation: M1 acute myeloid leukaemia
Acute myeloid leukaemia with maturation: M2 acute myeloid leukaemia
Acute hypergranular promyelocytic leukaemia: M3 acute myeloid leukaemia
The variant form of acute promyelocytic leukaemia: M3 variant acute myeloid leukaemia
Acute myelomonocytic leukaemia: M4 acute myeloid leukaemia
Acute monocytic/monoblastic leukaemia: M5 acute myeloid leukaemia
Acute myeloid leukaemia with predominant erythroid differentiation: M6 acute myeloid leukaemia
Acute megakaryoblastic leukaemia: M7 acute myeloid leukaemia
Acute eosinophilic leukaemia
Acute basophilic leukaemia
Acute mast cell leukaemia
Langerhans cell leukaemia
Hypoplastic or hypocellular acute myeloid leukaemia
Clinical correlates of FAB categories of acute myeloid leukaemia

The FAB classification of acute lymphoblastic leukaemia Acute lymphoblastic leukaemia of L3 subtype


Automated full blood counts in acute leukaemia
References
The nature of leukaemia

Leukaemia is a disease resulting from the neoplastic proliferation of haemopoietic or lymphoid cells. It results from mutation of a single stem cell, the progeny of which form a clone of leukaemic cells. Usually there is a series of genetic alterations rather than a single event. Genetic events contributing to malignant transformation include inappropriate expression of oncogenes and loss of function of tumour suppressor genes. Oncogenes may be either normal cellular genes (proto-oncogenes) that have mutated or are dysregulated, or novel hybrid genes resulting from fusion of parts of two genes. The cell in which the leukaemic transformation occurs may be a lymphoid precursor, a myeloid precursor or a pluripotent haemopoietic stem cell capable of differentiating into both myeloid and lymphoid cells. Myeloid leukaemias can arise in a lineage-restricted cell, in a multipotent stem cell capable of differentiating into cells of erythroid, granulocytic, monocytic and megakaryocytic lineages, or in a pluripotent lymphoid-myeloid stem cell. Lymphoid leukaemias usually arise in a B- or T-lineage stem cell but occasionally acute lymphoblastic leukaemia (ALL, either B-ALL or T-ALL) arises in a lymphoid-myeloid stem cell, as shown by development of histiocytic sarcoma with the same clonal origin as the preceding B- or T-lineage ALL [1,2].

Genetic alterations leading to leukaemic transformation often result from major alterations in the chromosomes, which can be detected by microscopic examination of the chromosomes of cells in metaphase. Other changes, such as point mutations or partial duplications, are at a submicroscopic level but can be recognized by analysis of deoxyribonucleic acid (DNA) or ribonucleic acid (RNA).

Neoplastic cells are genetically unstable so that further mutations can occur in cells of the clone. If a new mutation gives the progeny of that cell a growth or survival advantage it tends to replace the parent clone. Such clonal evolution can lead to transformation into a more aggressive or treatment-refractory form of the disease with an associated worsening of prognosis. A series of mutations can occur with progressive worsening of prognosis at each stage.

Leukaemias are broadly divided into: (i) acute leukaemias, which, if untreated, lead to death in weeks or months; and (ii) chronic leukaemias, which, if untreated, lead to death in months or years. They are further divided into lymphoid, myeloid and mixed phenotype leukaemias, the latter showing both lymphoid and myeloid differentiation (or both T- and B-lineage differentiation). Acute leukaemias are characterized by a defect in maturation, leading to an imbalance between proliferation and maturation; since cells of the leukaemic clone continue to proliferate without maturing to end cells and dying, there is continued expansion of the leukaemic clone and immature cells predominate. Chronic leukaemias are characterized by an expanded pool of proliferating cells that retain their capacity to differentiate to end cells.

The clinical manifestations of the leukaemias are due, directly or indirectly, to the proliferation of leukaemic cells and their infiltration into normal tissues. Increased cell proliferation has metabolic consequences, and infiltrating cells also disturb tissue function. Anaemia, neutropenia and thrombocytopenia are important consequences of infiltration of the bone marrow, which in turn can lead to infection and haemorrhage.
The aetiology of leukaemia

Many potential causes of leukaemia are known, but nevertheless the majority of cases remain unexplained. There may be an underlying genetic or other constitutional predisposition in addition to oncogenic environmental factors.

There is a familial predisposition to myelodysplastic syndromes (MDS) and acute myeloid leukaemia (AML). In the cases of MDS/AML, predisposing mutations have been identified in a number of genes: RUNX1, CEBPA, GATA2, ANKRD26, SRP72, DDX41, ETV6, ATGB2/GSKIP (duplication) and possibly HYDIN, MUC16, NMUR2, RNF213 and ACD (TPP1) [3,4]. Fanconi anaemia, dyskeratosis congenita, Down syndrome, Shwachman-Diamond syndrome, severe congenital neutropenia (with life sustained by treatment with granulocyte colony-stimulating factor) predispose to AML. Down syndrome also predisposes to ALL. Neurofibromatosis, Noonan syndrome and CBL mutation-associated syndrome predispose to juvenile myelomonocytic leukaemia. There is a familial predisposition to chronic lymphocytic leukaemia.

Cytotoxic chemotherapy, immunosuppressive therapy and acquired aplastic anaemia predispose to MDS and AML. To a lesser extent, cytotoxic chemotherapy predisposes to ALL and mixed phenotype acute leukaemia (MPAL). Irradiation predisposes also to AML, ALL and chronic myeloid leukaemia (CML).
The importance of classification

The purpose of any pathological classification is to bring together cases that have fundamental similarities and that are likely to share features of causation, pathogenesis and natural history. Making an accurate diagnosis of a haematological neoplasm is crucial for selection of the most appropriate treatment. Since there are many dozens, if not hundreds, of different types of leukaemia it is essential to have a classification that an individual case can be related to. Identification of homogeneous groups of biologically similar cases is important as it permits an improved understanding of the leukaemic process and ultimately benefits individual patients. Since such diagnostic categories or subgroups may differ from each other in the cell lineage affected, natural history, optimal choice of treatment, and prognosis with and without treatment, their recognition permits the development of a selective evidence-based therapeutic approach with a resultant overall improvement in outcome. Identifying valid diagnostic categories also increases the likelihood of causative factors and pathogenetic mechanisms being recognized.

The diagnosis and classification of leukaemia is based initially on morphology. A significant advance in the diagnosis and morphological classification of leukaemias occurred with the development of the French-American-British (FAB) classification of acute leukaemia [5-9], and subsequently of other leukaemias and related conditions. This classification, developed by a collaborating group of French, American and British haematologists provided clearly defined criteria, permitting uniform diagnosis and classification of these diseases over three decades. The FAB classification was based on morphology supplemented by cytochemistry and to some extent by immunophenotyping. Over the last decade the FAB classification has been increasingly supplemented and replaced by the WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues [10]. The WHO (World Health Organization) classification is based on morphology (either cytology or histology) but also makes extensive use of immunophenotyping...
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