ABSTRACT
RATIONALE: Persistent leukocytosis with megalosplenia is a common manifestation among patients with myeloproliferative neoplasm (MPN), especially for chronic myeloid leukemia (CML) patients. Here, we report a rare case of myeloid neoplasm with BCR-PDGFRA rearrangement characterized by obvious elevation of leukocyte count and megalosplenia. PATIENT CONCERNS: A 32-year-old man presented with persistent leukocytosis and megalosplenia. DIAGNOSIS: This patient was characterized by increased leukocyte count and megalosplenia, and was clinically diagnosed as CML. However, the BCR/ABL fusion gene of the patient was negative, which did not support CML. Moreover, the results of the karyotype showed 46, XY, t(4;22)(q12;q11) and RT-PCRâ+âSanger detection showed positive PDGFA/BCR. Accordingly, the diagnosis of myeloid neoplasm with BCR-PDGFA rearrangement was confirmed. INTERVENTIONS: This patient was initially received imatinib (400âmg) orally once a day, and the dosage was adjusted to 100âmg owing to suffering from grade IV bone marrow suppression. OUTCOMES: Hematological remission was achieved after 2âweeks, the best treatment response was achieved after 3âmonths, and the main molecular biological response was achieved after 12âmonths. LESSON: This case suggests that rare PDGFA fusion genes screening for patients comorbid with leukocytosis and megalosplenia is necessary to avoid misdiagnosis. Unlike other rearrangements of PDGFRA, the clinical manifestations of BCR-PDGFRA rearrangement are resembling CML without eosinophilia increase.