Clinical and Prognostic Features in a Young Adult Patient with de novo Myelodysplastic Syndrome presenting t(11;16) (q23; q24)
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Keywords
KMT2A rearrangement, de novo MDS, conventional cytogenetics, FISH, prognosis.
Abstract
hematopoietic clonal neoplasms. MDS occurs mainly in elderly patients. KMT2A rearrangements (KMT2A-r) are rare in MDS, so little is known about their prognostic value. The present study describes the clinical characteristics of a young adult patient diagnosed with MDS-EB-2, presenting the t(11;16)(q23;q24). The Decitabine treatment was initiated since no matching donor was found. The patient showed improved anemia and thrombocytopenia. However, he still had severe neutropenia and clonal chromosomal alteration. Two months after the fifth cycle of Decitabine, the patient presented a worsening of the clinical parameters with increased blast and evolution to AML. He was treated with intensification chemotherapy, but despite all efforts, the patient evolved to death. Treatment refractoriness and leukemia transformation suggest that t(11;16)(q23;q24) with KMT2A-r was associated with poor prognosis. This study reinforces the importance of characterizing new chromosomal alterations and their impact on prognosis in MDS.
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Viviane Lamim Lovatel, Instituto Nacional de Câncer
Bone Marrow Transplantation Center (CEMO), Instituto Nacional de Câncer (INCA), Rio de Janeiro, Brazil.
Luize Otero, Instituto Nacional de Câncer
Bone Marrow Transplantation Center (CEMO), Instituto Nacional de Câncer (INCA), Rio de Janeiro, Brazil.
Ercole Pietro Orlando, Instituto Nacional de Câncer
1- Outpatient Department, Bone Marrow Transplantation Center (CEMO), Instituto Nacional de Câncer (INCA), Rio de Janeiro, RJ, Brazil
2- Hematology Department, Antônio Pedro University Hospital (HUAP), RJ, Brazil
Claudia Diniz, Instituto Nacional de Câncer
ImmunologyLaboratory, Bone Marrow Transplantation Center (CEMO), Instituto Nacional de Câncer (INCA), Rio de Janeiro, Brazil
Filipe Vicente dos Santos-Bueno, Instituto Nacional de Câncer
Pediatric Hematology-Oncology Program, Research Center, Instituto Nacional de Câncer (INCA), Rio de Janeiro, Brazil
Bruno Almeida Lopes, Instituto Nacional de Câncer
Division of Clinical Research, Instituto Nacional de Câncer (INCA), Rio de Janeiro, Brazil
Elaiza Almeida Antônio de Kós, Instituto Nacional de Câncer
Bone Marrow Transplantation Center (CEMO), Instituto Nacional de Câncer (INCA), Rio de Janeiro, Brazil
Monica Kopischitz Praxedes Lusis, Hospital Universitário Antônio Pedro
Hematology Department, Hospital Universitário Antônio Pedro (HUAP), RJ, Brazil.
Eliana Abdelhay, Instituto Nacional de Câncer
Bone Marrow Transplantation Center (CEMO), Instituto Nacional de Câncer (INCA), Rio de Janeiro, Brazil.