We found a match
Your institution may have rights to this item. Sign in to continue.
- Title
A RARE CASE OF ACUTE MYELOID LEUKEMIA WITH CENTRAL NERVOUS SYSTEM INVOLVEMENT.
- Authors
Vazar-Tripon, Daiana-Andreea; Muntean, Maria-Miruna; Filimon, Robert-Alexandru; Jimbu, Ioana-Laura
- Abstract
Introduction: Acute myeloid leukemia is characterized by the proliferation of immature cells, called blasts, and it is frequently associated with an ineffective hematopoiesis. Extramedullary disease, such as central nervous sistem involvent, granulocytic sarcoma or leukemia cutis is rare. The nucleophosmin 1(NPM1) gene is one of the most commonly mutated genes in AML and it is associated with a favorable prognosis. Case Report: A 73-year-old female was admitted in December 2023 to the hematology department presenting marked leukocytosis with monocytosis, thrombocytopenia and mild anemia. The peripheral blood smear showed 64% blasts. A bone marrow aspiration and immunophenotying was performed which confirmed the diagnosis of acute monoblastic leukemia. Molecular biology showed no mutations in FMS-like tyrosine kinase 3 (FLT3) ITD or TKD genes but a mutation in the NPM1 gene was positive. Caryotying was not available, due to national holidays. Due the marked leukocytosis, cytoreductive treatment with hydroxyurea was initiated. On the same day, the patient presented acute respiratory failure and fever and she was transferred to the intensive care unit department. A head and chest CT scan revealed cortico-subcortical atrophy and signs of pulmonary infection for which antibiotherapy and antifungal therapy was initiated. After a few days the patients was transferred to back the hematology department where azacitidine, a hypomethylating agent and venetoclax, a BCL-2 inhibitor (B-cell lymphoma 2) was initiated. After one cycle the complete blood count was almost normalized but the patient complained about a generalized, erythematous, slightly itchy rash. A skin biopsy was performed and was positive for leukemia cutis. In February 2024, the patient presented with left hemiparesis. A CSF (cerebrospinal fluid) smear and skull CT were performed, which indicated the presence of blastic meningitis. Intrathecal administration of methotrexate, cytarabine and corticosteroids failed to improve the neurological symptoms. A second line treatment with etoposide and idarubicine was started but the patient died within weeks. Discussions : SNC involvent in AML is an uncommon phenomena. The presence of both skin and SNC involvement, simultaneous, suggests a very agreessive disease. Conclusions: AML with mutated NPM1 is ussualy associated with a favorable prognosis. However, in this case the disease was very aggresssive. Despite advancements in therapeutic regimens, the prognosis remains very poor in the elderly population.
- Subjects
ROMANIA; SKULL radiography; CEREBROSPINAL fluid examination; BONE marrow examination; ADRENOCORTICAL hormones; IDARUBICIN; IMMUNOPHENOTYPING; SPINAL injections; HEMIPLEGIA; MENINGITIS; COMPUTED tomography; METHOTREXATE; CENTRAL nervous system; TREATMENT effectiveness; CONFERENCES &; conventions; CYTARABINE; ETOPOSIDE; DISEASE complications
- Publication
Acta Marisiensis. Seria Medica, 2024, Vol 70, p216
- ISSN
2668-7755
- Publication type
Article