Ideally, information from all available studies, including traditional morphologic and immunophenotypic findings as well as data from new genomic, proteomic, and pharmacogenomic studies would be applied to define a patient’s disease profile. Clinicians are anxious to incorporate this new knowledge into the selection of more specifically targeted therapies, and there is general agreement that new research insights need to be translated into useful clinical tests. The monumental research advances in genomic and protein research over the past several years have made it possible to envision, in the not too distant future, the development of medical care that is truly tailored to each individual patient. He describes new technologies for rapid identification of different important proteins and protein networks, and the potential therapeutic and prognostic value of the elucidation of these proteins and protein pathways in the clinical care of patients with malignant lymphomas. Liotta presents an update on proteomic analysis, a new and very active area of research in hematopoietic malignancies. Analysis methods and the actual and potential clinical and therapeutic applications of information obtained from genomic profiling of malignant lymphomas are discussed. Shipp provides an update on current scientific knowledge in the genomic profiling of malignant lymphomas, and describes some of the technical aspects of gene expression profiling. Recent and projected changes in methodologies and analytical strategies used by clinical molecular diagnostics laboratories for the evaluation of hematologic disorders will be discussed, and some of the challenges to clinical implementation of new molecular information and techniques will be highlighted. Braziel discusses the impact of new genetic information and research technologies on the actual practice of diagnostic molecular hematopathology. This chapter focuses on new technologies and advancements in understanding the molecular basis of hematologic disorders, providing an overview of new information and its significance to patient care. A huge body of new information on the genetic, genomic and proteomic profiles of different hematopoietic diseases is accumulating. A functioning interdisciplinary cooperation between oncology, bioinformatics and molecular pathology is prerequisite for modern oncological diagnostics based on the current state-of-the-art knowledge and decisive for optimal care of oncological patients.īioinformatics High-throughput sequencing Pathology, molecular Personalized medicine Predictive molecular testing.It is increasingly evident that molecular diagnostics, that is, the use of diagnostic testing to understand the molecular mechanisms of an individual patient’s disease, will be pivotal in the delivery of safe and effective therapy for many diseases in the future. Promising recent developments include "liquid biopsy" and tumor agnostic strategies. Molecular stratification of common tumor entities such as colorectal carcinoma and the discovery of paradigmatic molecular changes such as NTRK fusions illustrate how molecular pathological investigations can be performed under diagnostic or predictive conditions and can also provide prognostic information. Molecular tumor diagnostics is rapidly evolving, driven by technological advances in high-throughput sequencing and bioinformatics, and paralleled by the emergence of novel therapeutic approaches, not least in the field of immune oncology.
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