Author(s): Silva, Maria do Céu ; Ambrósio, Ana Paula ; Marques, Bárbara ; Ventura, Catarina ; Silva, Elizabeth ; Trindade, Maria do Céu ; Correia, Hildeberto
Date: 2021
Persistent ID: http://hdl.handle.net/10400.18/8126
Origin: Repositório Científico do Instituto Nacional de Saúde
Subject(s): Acute Myeloid Leukemia; Primar Myelofibrosis; Chromosome 1; AML; Duplication; Doenças Genéticas; Determinantes da Saúde e da Doença
Primary myelofibrosis (PMF) is one of the Myeloproliferative neoplasms (MPN), which presents a preferential proliferation of megakaryocytes and granulocytes in the bone marrow (BM). One of the causes of morbidity and mortality in PMF is the progression to Acute Myeloid Leukemia (AML). We present a clinical case, of a female individual, 68 years old at the time of the initial diagnosis, who presented moderate anemia and thrombocytosis, and diagnosed as myeloid metaplasia with myelofibrosis. The karyotype performed in the BM, resulted in a duplication of the long arm of chromosome 1, del(1)(q21q32). The patient remained stable and without therapy for 5 years having performed a myelogram at this time, and a bone biopsy that showed an advanced myelofibrosis. In parallel, cytogenetic studies and search for V617F mutation in the Jak2 gene, indicated the absence of the mutation V617F, and confirmed the presence of the dup(1)(q21q32). the patient started therapy with an erythropoietin substitute. Currently, with 8 years of evolution of the disease, she has no clinical complaints, without transfusions and maintaining therapy. The dup(1)(q21q32) associated with MPN is a rare anomaly and is associated with AML evolution. Since the patient understudy did not evolve to AML, FISH, and high-resolution microarray studies were performed. The studies confirmed the observed breacpoints and did not show other changes Based on the patient's clinical history and results, we suggest that the dup(1)(q21q32) alone does not induce an evolution to AML and that the duplication of genes correlated with this pathology (ex: ARNT, among others) is not a sufficient factor for the development of a more aggressive progression. However, more studies should be carried out in order to clarify the role of this alteration in NM.
