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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.

Chronic Myeloid Leukemia: Atypical Presentation and Diagnostic Pitfall in the Workup of Isolated Thrombocytosis