Detection and characterization of homozygosity of mutated CALR by copy neutral loss of heterozygosity in myeloproliferative neoplasms among cases with high CALR mutation loads or with progressive disease

Abstract excerpt

Myeloproliferative disorders (MPN) are a heterogeneous group of diseases characterized by aberrant proliferation of one or more of the myeloid lineages. 1 BCR-ABL1 negative MPN include polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF), which have overlapping clinical features and a common molecular basis. 1 Molecular mutations fre-quently involve genes encoding for specific...

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