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  • Title: Chronic Myeloid Leukemia: Atypical Presentation and Diagnostic Pitfall in the Workup of Isolated Thrombocytosis.
    Author: Findakly D, Arslan W.
    Journal: Cureus; 2020 Jun 07; 12(6):e8498. PubMed ID: 32528789.
    Abstract:
    Chronic myeloid leukemia (CML) is one of the classic types of myeloproliferative neoplasms. It typically manifests with leukocytosis, but rarely with isolated thrombocytosis. Here we describe a unique case of isolated thrombocytosis as an initial presentation of CML in a 21-year-old woman, where the BCR-ABL1 fusion gene was detected in bone marrow (BM) aspiration and biopsy specimen after a negative peripheral blood (PB) fluorescence in situ hybridization testing. It is crucial to pursue workup for patients with isolated thrombocytosis through testing for the presence of the BCR-ABL fusion gene or the Philadephia chromosome in both PB and the BM in order to distinguish CML from essential thrombocythemia.
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