Leukaemia Diagnosis

Barbara J. Bain

• Publisher: Wiley-Blackwell
• Year: 2017
• ISBN:
  9781119210504
• Edition: 5
• Topic: Medicine
• Subtopic: Hematology

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

1
The Nature of Leukaemia, Cytology, Cytochemistry and the Morphological Classification of Acute Leukaemia

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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

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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 co...