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While growing use of comprehensive mutational analysis has led to the discovery of innumerable genetic alterations associated with various myeloid neoplasms, the under-recognized phenomenon of genetic heterogeneity within such neoplasms creates a potential for diagnostic confusion. Here, we describe two cases where expanded mutational testing led to amendment of an initial diagnosis of chronic myelogenous...
An unusual case of a BCR-ABL1–positive myeloproliferative neoplasm is presented with discordant molecular and cytogenetic characterization at diagnosis. More extensive molecular characterization of the fusion messenger RNA transcript using a next-generation sequencing approach identified a novel BCR-calcineurin-binding protein 1-ABL1 variant, which has not been described previously. This case highlights...
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