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Precision Medicine in Pediatric Hematological Malignancies

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Next generation sequencing has made recent critical contributions to our understanding of the biology and pathophysiology of pediatric hematological malignancies, including the identification of novel risk factors and targetable fusions, the characterization of new subclasses of leukemia, the identification ...

Next generation sequencing has made recent critical contributions to our understanding of the biology and pathophysiology of pediatric hematological malignancies, including the identification of novel risk factors and targetable fusions, the characterization of new subclasses of leukemia, the identification of genetic predispositions, and of lesions associated with relapse and chemotherapy resistance. It is critical that these findings in the lab be translated into the clinic, and in the past few years, clinical grade assays for both DNA and RNA sequencing have become available in academic and commercial settings. However, many issues remain to be solved in order to integrate these approaches into clinical medicine - how do these genetic lesions affect prognosis and therapy, how should they be incorporated into modern risk stratification and clinical trials, and what are the best assays and informatic pipelines to use for analysis. This research topic welcomes contributions of clinicians, basic scientists, molecular pathologists and translational investigators interested in this rapidly evolving field.


Keywords: genomics, precision medicine, sequencing, pediatric, leukemia, bone marrow failure, somatic mutations, germline mutations, hematological malignancies


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