Abstract
The rarity of neoplastic Hodgkin and Reed-Sternberg (HRS) cells in tissue biopsies and technical challenges related to routine formalin fixation have limited for a long time a deeper understanding of classic Hodgkin lymphoma (cHL) genetics and therapeutically exploitable vulnerabilities. Recently, technical advances such as flow cytometry- or laser microdissection-based HRS single cell separation and sequencing as well as circulating tumor DNA genotyping allowed improving our understanding of the genomic basis of cHL. Most strikingly, a comprehensive and unbiased view of the genes/pathways that are deregulated in these diseases is now available. Of note, these pathways have been previously identified by gene expression profiling and functional genomic studies of cHL, indicating that mutations act as signposts highlighting cellular programs that are relevant for the biology of the disease and potential therapeutic targets. Moreover, gene expression profiling techniques that are suitable for both fresh and formalin-fixed biopsy material have provided the framework for more detailed insight into the composition and function of the tumor microenvironment (TME) with future implications for outcome prediction, dynamic biomarker testing, and therapy selection.
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Rossi, D., Steidl, C. (2020). What Have We Learnt from Genomics and Transcriptomics in Classic Hodgkin Lymphoma. In: Engert, A., Younes, A. (eds) Hodgkin Lymphoma. Hematologic Malignancies. Springer, Cham. https://doi.org/10.1007/978-3-030-32482-7_5
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DOI: https://doi.org/10.1007/978-3-030-32482-7_5
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