Haematological malignancies – a complex and expensive diagnosis

Blog Post by Wendy Erber , Consultant Haematologist and Clinical Director, Haemo-Oncology Diagnostic Service, Haematology Department, Addenbrooke’s Hospital, Cambridge

The diagnosis of haematological malignancies is complex, expensive and evolving rapidly. There is a myriad of diagnostic tests that can be applied to the analysis of malignant hematological disease. Which of these many tests should be performed and on which sample and at what time-point in the progress of the disease? As director of a large haemato-oncology diagnostic service and supervisor of haematologists in-training, I have seen the difficulties trainees have experienced, and the time, effort and resources wasted on poorly focused testing due to lack of knowledge in these areas.

As a consequence, and in the absence of texts on this subject, I was motivated to write a book to explain the diagnostic techniques and how they should optimally be applied to the assessment of haematological malignancies. We need to be applying the right test at the right time and interpreting the result in clinical context at diagnosis and throughout the course of management of haematological malignancies. Optimal test utilization requires knowledge of the many individual diseases and the range of tests available to investigate them. Morphology, cell phenotyping, cytogenetics and molecular genetics are all essential and these must be used in a structured approach with the results integrated to give an overall diagnosis. To use these tests appropriately requires an understanding of the principles and roles of each of these test types and how they supplement traditional morphological assessment. Diagnostic Techniques in Hematological Malignancies is a multi-authored book written by an international panel of experts. It details the principles and applications of the laboratory techniques available in the analysis of haematological malignancies in blood and bone marrow. There are many colour illustrations, tables and diagrams to help demonstrate the key features; these should be useful resources for even experienced haematologists.

The book is in two sections: Section 1 has technical chapters on the diagnostic techniques covering morphology, immunocytochemistry, flow cytometry, cytogenetics and molecular genetics. For each the methodological principles, data interpretation and limitations are provided, and the role of the techniques illustrated by clinical examples. These are followed by a chapter describing how the results of these techniques should be integrated to give an overall interpretation of the disorder; in other words “value adding” to the individual results for the clinician. Section 2 has chapters devoted to the specific hematological malignancies. Recognised international clinical leaders (clinicians, hematologists and pathologists) have written comprehensive chapters on appropriate test utilization in each of the diseases or group of disorders. In other words, which of the test types should be used and at what stages through the natural history of the disease. Each chapter has brief introduction to the disease, followed by a structured account of how to best apply the diagnostic techniques throughout the course of the disease. This section is not “just another book” on hematological malignancies – it specifically addresses how to best use diagnostic techniques for each disorder. This was a challenge for the authors, but I am delighted that they addressed this “brief” with aplomb!

Although the emphasis is on testing at diagnosis and staging, additional new and important evolving roles are highlighted. These are the identification of markers for disease stratification, detecting potential therapeutic targets, assessing low level disease following therapy and monitoring for pending relapse. It is these additional applications of our test repertoire that are becoming increasingly important as we move to greater use of targeted therapies and personalised medicine with curative intent. My trainees have had a major influence on this book. It is from them that I have seen the difficulties they face in how to use tests to diagnose and monitor hematological malignancies. This book is intended for them, as well as qualified hematologists, hematopathologists and clinical scientists who wish to acquire a better understanding to diagnostic testing in the hematological malignancies. I hope you will also find it a useful guide to rational structured (and hence economical) laboratory assessment of hematological malignancies. I plan to use this book myself as a reference in my day-to-day practice as a diagnostic haematologist.

Diagnostic Techniques in Hematological Malignancies is edited by Wendy Erber and published by Cambridge University Press

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