Mihai Emilian LĂPĂDAT, Oana STANCA, Irina Nicoleta TRIANTAFYLLIDIS, Anca Mariana CIOBANU, Cristina MAMBET, Andrei COLIȚĂ
Abstract
Chronic neutrophilic leukemia (CNL) is an extremely rare hematological malignancy, characterized by clonal proliferation of mature neutrophils, whose diagnosis has been facilitated in the last decade by the identification of a highly specific CSF3R T618I mutation. Myelodysplastic syndromes (MDS) are a group of hematological malignancies that share a common characteristic: dysplasia of the bone marrow. The association between the two entities is infrequent. A 65-year-old female patient with high-risk MDS developing CNL is described. She had a 2-year history of MDS with excess blasts type II with diagnosis based on dysplasia, presence of CD45-positive blasts in the marrow, thrombocytopenia and cytogenetic abnormalities (21 trisomy). She received azacitidine for eighteen courses, with good response to treatment. Approximately 25 months later, she started developing marked leukocytosis with neutrophilia (WBC 80.25 x 109/l with neutrophils 68.30 x 109/l), thrombocytopenia (49 x 109/l) and splenomegaly (16.5 cm in the long axis). Next Generation Sequencing examination revealed the presence of a CSF3R T618I mutation, alongside an ASXL1 mutation and PTPN11 mutation. Treatment with hydroxyurea was initiated with poor outcome. The patient died one month later of cerebral hemorrhage.
Keywords: chronic neutrophilic leukemia, myelodysplastic syndrome, CSF3R T618I, bone marrow, next generation sequencing
https://doi.org/10.59854/dhrrh.2024.2.3.149
