Molecular diagnostics and risk assessment in myeloid malignancies

Chapter 4 Molecular diagnostics and risk assessment in myeloid malignancies Christian Scharenberg, Christian Scharenberg Department of Hematology, Skaraborgs Hospital Skövde, Skövde, SwedenSearch for more papers by this authorTorsten Haferlach, Torsten Haferlach MLL Munich Leukemia Laboratory, Munich, GermanySearch for more papers by this author Christian Scharenberg, Christian Scharenberg Department of Hematology, Skaraborgs Hospital Skövde, Skövde, SwedenSearch for more papers by this authorTorsten Haferlach, Torsten Haferlach MLL Munich Leukemia Laboratory, Munich, GermanySearch for more papers by this author Book Editor(s):Drew Provan, Drew ProvanSearch for more papers by this authorHillard M. Lazarus, Hillard M. LazarusSearch for more papers by this author First published: 08 March 2024 https://doi.org/10.1002/9781394180486.ch4 AboutPDFPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShareShare a linkShare onEmailFacebookTwitterLinkedInRedditWechat Summary Myeloid malignancies present complex challenges in diagnosis and treatment. This book chapter provides a comprehensive exploration of molecular diagnostics and risk assessment in myeloid malignancies. It covers advanced detection methods, karyotypic evolution, clinical implications, personalized treatment selection, and discusses therapy-related chromosomal aberrations post-cytotoxic therapy. Additionally, the chapter delves into mutations in splicing factors, epigenetic regulation, histone modification, DNA methylation, the cohesin complex, transcription factors, and cell signaling genes. It offers a critical resource for researchers and clinicians seeking a deeper understanding of the molecular underpinnings of myeloid malignancies, ultimately contributing to improved patient care. Further reading Abelson , S. , Collord , G. , Ng , S.W.K. et al . ( 2018 ). Prediction of acute myeloid leukaemia risk in healthy individuals . Nature 559 : 400 – 404 . 10.1038/s41586-018-0317-6 CASPubMedWeb of Science®Google Scholar Arber , D.A. , Orazi , A. , Hasserjian , R. et al . ( 2016 ). The 2016 revision to the World Health Organization (WHO) classification of myeloid neoplasms and acute leukemia . Blood 127 : 2391 – 2405 . 10.1182/blood-2016-03-643544 CASPubMedWeb of Science®Google Scholar Bacher , U. , Schnittger , S. , Macijewski , K. et al . ( 2012 ). Multilineage dysplasia does not influence prognosis in CEBPA-mutated AML, supporting the WHO proposal to classify these patients as a unique entity . 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