Rapid Progression of Myelodysplastic/Myeloproliferative Neoplasm with Neutrophilia to Acute Myeloid Leukemia: A Case Report

Abstract

Abstract Introduction/Objective Myelodysplastic/myeloproliferative neoplasms (MDS/MPN) with neutrophilia, formerly atypical chronic myeloid leukemia, is a subtype of MDS/MPN that is characterized by peripheral blood neutrophilia with frequent left-shifted myeloid cells, dysplastic granulocytes, and an absence of the Philadelphia chromosome or BCR- ABL1 fusion gene. Its clinical course is variable, ranging from a chronic indolent disease to an aggressive leukemia. Herein, we report a case of who was diagnosed with MDS/MPN with neutrophilia and had rapid progression to acute myeloid leukemia. Methods/Case Report A 63-year-old male patient with no significant medical history presented with incidental findings of abnormal peripheral blood counts: leukocytosis of 153 × 109/L, platelets of 82 × 109/L, and Hb of 6.7g/dl. Flow cytometry (FCM) on peripheral blood was significant for increased granulocytes and a population of aberrant blasts (~7.3%) expressing CD5, CD11c, CD13, CD34, CD38, CD56 (partial), CD117, and HLA-DR. The initial Bone marrow biopsy showed a hypercellular marrow (90-100%), 3% blasts, dysgranulopoiesis, and dysmegakaryopoiesis. Fluorescence in situ hybridization (FISH) analysis for BCR-ABL1 fusion and MPN with Eosinophilia panel, including FIP1L1-CHIC2-PDGFRA; PDGFRB/5q33; FGFR1/8p12, were all negative. Next Generation sequencing (NGS) detected at least one variant of strong clinical significance (Tier I) including: ASXL1 c.1900_1922del23, NRAS c.35G>C, U2AF1 c.470A>C, potential clinical significance (Tier II) GATA2 c.1160_1165delCCATGA and unknown clinical significance (Tier III) SETBP1 c.2620G>A. The chromosomal analysis showed trisomy 14. The patient received Decitabine for 2 months, but follow-up FCM on the subsequent bone marrow examination revealed 40% blasts, with marked erythroid hyperplasia. The patient was diagnosed with acute myeloid leukemia. Despite receiving Venetoclax and Azacitidine, the patient deteriorated and expired in 10 months after the initial diagnosis of MDS/MPN with neutrophilia. Results (if a Case Study enter NA) NA Conclusion This case highlights the poor prognosis associated with MDS/MPN with neutrophilia. Optimal management strategies for these patients are still evolving, and new targeted therapies are needed to improve outcomes.