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

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.