Comprehensive Analysis of 22 Cases with Blastic Plasmacytoid Dendritic Cell Neoplasm Reveals Mutations in DNA Repair Genes and Two Distinct Subgroups Defined By Differential Gene Expression with Prognostic Impact
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DOI: 10.1182/blood-2019-125645
Abstract: Background: Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare hematological malignancy with a poor prognosis. The majority of patients with BPDCN show a complex karyotype. Recurrently mutated genes mainly include epigenetic modifiers and splicing… read more here.
Keywords: mll munich; analysis; leukemia laboratory; expression ... See more keywords
Molecular Classification of AML-MRC Reveals a Distinct Profile and Identifies MRC-like Patients with Poor Overall Survival
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DOI: 10.1182/blood-2019-128234
Abstract: Background: AML with myelodysplasia related changes (AML-MRC) is as specific WHO category with poor prognosis. It requires ≥ 20% of blasts, and (1) the history of MDS or MDS/MPN, or (2) "MDS related cytogenetic abnormalities",… read more here.
Keywords: mll munich; aml mrc; mrc; leukemia laboratory ... See more keywords
A Novel Machine Learning Based in silico Pathogenicity Predictor for Missense Variants in a Hematological Setting
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DOI: 10.1182/blood-2019-128488
Abstract: Background: Interpreting the pathogenic potential of an amino-acid changing single nucleotide variant (SNV) in a disease related gene can be challenging, especially for rare variants for which little or no information is available in clinical… read more here.
Keywords: mll munich; laboratory employment; predictor; germline ... See more keywords