A5082635213- Acute Myeloid Leukemia Research
- Acute Lymphoblastic Leukemia research
- Genomic variations and chromosomal abnormalities
- Chronic Lymphocytic Leukemia Research
- Protein Degradation and Inhibitors
- Chronic Myeloid Leukemia Treatments
- Retinoids in leukemia and cellular processes
- Histone Deacetylase Inhibitors Research
- Advanced biosensing and bioanalysis techniques
- DNA Repair Mechanisms
- Immunodeficiency and Autoimmune Disorders
- Cytokine Signaling Pathways and Interactions
- DNA and Nucleic Acid Chemistry
- RNA Interference and Gene Delivery
- Epigenetics and DNA Methylation
- Hematopoietic Stem Cell Transplantation
- Malaria Research and Control
- Vector-borne infectious diseases
- Genomics and Chromatin Dynamics
- Mosquito-borne diseases and control
- Hemoglobinopathies and Related Disorders
Instituto Nacional do Câncer
2010-2023
National Cancer Institute
2020-2021
National Institutes of Health
2011-2012
Universidade Federal do Rio de Janeiro
2007
Abstract Chromosomal rearrangements of the human KMT2A/MLL gene are associated with de novo as well therapy-induced infant, pediatric, and adult acute leukemias. Here, we present data obtained from 3401 leukemia patients that have been analyzed between 2003 2022. Genomic breakpoints within KMT2A involved translocation partner genes (TPGs) -partial tandem duplications (PTDs) were determined. Including published literature, a total 107 in-frame fusions identified so far. Further 16...
A dengue no Brasil incide tipicamente nos meses mais quentes do ano, sem diferenças qualitativas para as regiões brasileiras, porém, com quantitativas importantes, dividindo o país em dois grupos distintos quanto ao número de notificações casos. O primeiro grupo compreende Nordeste e Sudeste, que deteve cerca 86% das notificações, enquanto segundo (regiões Sul, Centro-Oeste Norte) é responsável por um significativamente menor. Os índices vetoriais estavam associados primariamente tamanho...
Abstract In pediatric acute leukemias, reciprocal chromosomal translocations frequently cause gene fusions involving the lysine (K)‐specific methyltransferase 2A ( KMT2A , also known as MLL ). Specific fusion partners are associated with disease phenotype (lymphoblastic vs. myeloid), and type of rearrangement has prognostic implications. However, partner cannot always be identified by banding karyotyping. We sought to identify such genes in 13 cases childhood leukemia uninformative...
Myeloid malignancies can be either primary or secondary, whether not a specific cause determined. Fanconi anemia (FA), rare constitutional bone marrow failure, usually presents an increased possibility of clonal evolution, due to the increase in chromosomal instability, TP53 activation, and cell death. The evolution FA may include aplastic by progressive failure myelod neoplasias, such as acute myeloid leukemia myelodysplastic syndrome. Chromosome abnormalities, particularly chromosomes, 1,...
Myelodysplastic syndrome (MDS) is rare in the pediatric age group and it may be associated with inheritable bone marrow failure (BMF) such as Fanconi anemia (FA). FA a multi-system genetic disorder, characterized by congenital malformations progressive BMF. Patients usually present chromosomal aberrations when evolving to MDS or acute myeloid leukemia (AML). Thus, cytogenetic studies (BM) of these patients have an important role therapeutic decision, mainly indication for hematopoietic stem...
Deletions in the long arm of chromosome 5 or loss whole are rare childhood Acute Myeloid Leukemia (AML) patients. It is also unknown if wide variety breakpoints have diverging implications patient’s outcome. Despite -5/5q- abnormalities usually been described as a poor prognostic feature, however, low frequency pediatric AML patients limits full knowledge about this cytogenetic and clinical category, which an intriguing factor for further research new findings. Here, we report child showing...
Acute promyelocytic leukemia (APL) is usually associated with a favorable outcome, but about 10% of patients tend to relapse. The genetic hallmark APL balanced translocation involving chromosomes 15 and 17, the <i>PML-RARa</i> gene fusion found in more than 90% these cases. Other chromosomal abnormalities are commonly APL, their clinical significance has yet be determined. Here we report case childhood that was studied by conventional cytogenetics along molecular cytogenetic...
KMT2A gene rearrangements represent the most frequent group of abnormalities in childhood leukemia (~70% cases), with over 120 described. The investigation is still a vast field to be explored. Several studies have been characterizing different outcomes and leukemogenic mechanisms, depending on translocation partner involved -r leukemias. Therefore, detection gene, including context complex rearrangements, may help better delineate disease. Here, we describe clinical molecular cytogenetic...
About 25% of the patients with translocation t(11;19)(q23;p13.3)/ KMT2A - MLLT1 present three-way or more complex fusions, associated a worse prognosis, suggesting that particular mechanism creates functional fusions for this condition. In work, we show cryptic t(9;11;19). Interestingly, long-distance inverse polymerase chain reaction sequencing revealed and yet unreported out-of-frame SEC16A fusion, low expression overexpression, in an infant B-acute lymphoblastic leukemia presenting poor...
Click to increase image sizeClick decrease size AcknowledgmentsThe authors acknowledge with gratitude Dr. Marcelo Land, Renata Binato, and Moisés Rocha. We thank Drs. Soheil Meshinchi Michael Loken for their invaluable suggestions Alice Theophilo Teixeira de Matos Bch. editing the figures. This work was dedicated Brazilian indigenist Bruno Pereira in memoriam.Authors’ contributionsCapela RR, Silva MLM, Ribeiro RC participated design of study manuscript writing; Rouxinol M performed clinical...
Pediatric acute myeloid leukemia (AML) is a highly heterogeneous disease, presenting cytogenetic and molecular abnormalities which turned out to be critical prognostic factors. Ploidy changes as gain or loss of individual chromosomes are rare in AML, occurring only about 1-2% the affected children. Hyperdiploid karyotypes exceedingly infants less than 12 months age. In this age group, structural rearrangements involving <i>KMT2A</i> gene occur 58% cases. Among them, translocation...
Patients with childhood acute myeloid leukemia (AML) complex karyotypes (CKs) have a dismal outcome. However, for patients <i>KMT2A</i> rearrangement (<i>KMT2A</i>-r), the prognosis appears to depend on fusion partner gene rather than karyotype structure. Thus, precise characterization of <i>KMT2A</i>-r and genes, especially in CKs, is interest managing AML. We describe clinical molecular features child who presented large abdominal mass, AML, new CK,...