Leucemia mielomonocítica crónica asociada a mastocitosis sistémica: revisión bibliográfica

Abstract

Chronic Myelomonocytic Leukemia associated with Systemic Mastocytosis (CMML-SM) is a rare and complex disease involving two hematological disorders: chronic myelomonocytic leukemia, combining features of myelodysplastic syndromes with myeloproliferative neoplasms, and systemic mastocytosis characterized by the infiltration of atypical mast cells in extracutaneous tissues. This study aims to identify the impact of the coexistence of Chronic Myelomonocytic Leukemia and systemic mastocytosis on the progression of both diseases and their management. The diagnosis of CMML-SM is based on meeting the World Health Organization (WHO) criteria for both conditions, and the detection of the KIT D816V mutation in most CMML monocytes is a crucial diagnostic element. Therapeutic options are limited and often include therapies targeting the KIT gene. However, hematopoietic stem cell transplantation is considered an alternative, although it is only available for a small number of young patients. Regarding prognosis, CMML-SM may have a less favorable course compared to similar cases without mast cell disease and may even evolve into acute myeloid leukemia. The presence of multiple mutations may worsen the prognosis and affect the quality of life of patients. Identifying patterns in this coexistence and improvements in diagnosis and treatment will allow healthcare professionals to better understand this pathology and provide more effective care to affected patients.