Screening of mutations in the additional sex combs like 1, transcriptional regulator, tumor protein p53, andKRASproto-oncogene,GTPase/NRASproto-oncogene,GTPasegenes of patients with myelodysplastic syndrome

O autor pode arquivar a versão/PDF do editor, estando sujeito às restrições abaixo Restrições: 6 meses de embargo Condições gerais: Tem de ser utilizada a versão/PDF do editor - On Institutional Repository or Funder's repositorySubmitted by Sandra Infurna ([email protected]) on 2018-02-27T17:09:53Z No. of bitstreams: 1 aline_moreira_etal_IOC_2017.pdf: 335353 bytes, checksum: cea3e7aa77916846773fda40fe4bf73f (MD5)Approved for entry into archive by Sandra Infurna ([email protected]) on 2018-02-27T17:27:55Z (GMT) No. of bitstreams: 1 aline_moreira_etal_IOC_2017.pdf: 335353 bytes, checksum: cea3e7aa77916846773fda40fe4bf73f (MD5)Made available in DSpace on 2018-02-27T17:27:55Z (GMT). No. of bitstreams: 1 aline_moreira_etal_IOC_2017.pdf: 335353 bytes, checksum: cea3e7aa77916846773fda40fe4bf73f (MD5) Previous issue date: 2017Universidade do Estado do Rio de Janeiro. Hospital Universitário Pedro Ernesto. Serviço de Hematologia. Rio de Janeiro, RJ, Brasil.Universidade do Estado do Rio de Janeiro. Faculdade de Ciências Médicas. Laboratório Marcadores Circulantes. Rio de Janeiro, RJ, Brasil.Universidade do Estado do Rio de Janeiro. Faculdade de Ciências Médicas. Laboratório Marcadores Circulantes. Rio de Janeiro, RJ, Brasil.Universidade do Estado do Rio de Janeiro. Faculdade de Ciências Médicas. Laboratório Marcadores Circulantes. Rio de Janeiro, RJ, Brasil.Universidade do Estado do Rio de Janeiro. Faculdade de Ciências Médicas. Laboratório Marcadores Circulantes. Rio de Janeiro, RJ, Brasil.Universidade do Estado do Rio de Janeiro. Faculdade de Ciências Médicas. Laboratório Marcadores Circulantes. Rio de Janeiro, RJ, Brasil.Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Laboratório de Genômica Funcional e Bioinformática. Rio de Janeiro, RJ. Brasil.Universidade do Estado do Rio de Janeiro. Hospital Universitário Pedro Ernesto. Serviço de Hematologia. Rio de Janeiro, RJ, Brasil.Faculdade Kennedy. Departamento de Engenharia e Produção. Belo Horizonte, MG, BrasilFundação Oswaldo Cruz. Instituto Fernandes Figueira. Departamento de Genética Médica. Rio de Janeiro, RJ. Brasil.Colégio Pedro II. Campus II Realengo. Rio de Janeiro, RJ, Brasil.Universidade do Estado do Rio de Janeiro. Faculdade de Ciências Médicas. Laboratório Marcadores Circulantes. Rio de Janeiro, RJ, Brasil.Myelodysplastic syndrome (MDS) is a heterogeneous group of clonal bone marrow disorders characterized by ineffective hematopoiesis, different degrees of cellular dysplasia, and increased risk of progression to acute myeloid leukemia. International Prognostic Scoring System is the gold standard for MDS classification; however, patients exhibiting different clinical behaviors often coexist in the same group, indicating that the currently available scoring systems are insufficient. The genes that have recently been identified as mutated in MDS, including additional sex combs like 1, transcriptional regulator (ASXL1), tumor protein p53 (TP53), andKRASproto-oncogene andGTPase(KRAS)/NRASproto-oncogene,GTPase(NRAS), may contribute to a more comprehensive classification, as well as to the prognosis and progression of the disease. In the present study, the mutations in theASXL1,TP53andNRAS/KRASgenes in 50 patients were evaluated by sequencing genomic bone marrow DNA. Nine patients (18%) presented with at least one type of mutation. Mutations inTP53were the most frequent in six patients (12%), followed byASXL1in two patients (4%) andNRASin one patient (2%). The nine mutations were detected in patients with low- and high-risk MDS. The screening of mutations in MDS cases contributes to the application of personalized medicine

Complex karyotype including ring chromosome 11 in a patient with acute myeloid leukemia: case report

<div><p>ABSTRACT CONTEXT: Complex karyotypes in acute myeloid leukemia (AML) are characterized by an overall low response rate with frequent relapses after clinical treatment. CASE REPORT: Here, we describe the case of a 61-year-old obese female with clinically diagnosed AML who presented a complex karyotype involving an uncommon abnormality: ring chromosome 11. Immunophenotypic analysis confirmed the diagnosis. Classical and molecular cytogenetic analyses, using GTG banding and FISH (fluorescence in situ hybridization), revealed the presence of complex structural rearrangement involving r(11), add(12)(p13), der(5) and der(13). CONCLUSIONS: Molecular cytogenetic analysis is suitable for better identification and characterization of chromosomal rearrangements in AML. Case reports like this, as well as population-based studies, are necessary for understanding the karyotypic changes that occur in humans.</p></div

Characterisation of microbial attack on archaeological bone

As part of an EU funded project to investigate the factors influencing bone preservation in the archaeological record, more than 250 bones from 41 archaeological sites in five countries spanning four climatic regions were studied for diagenetic alteration. Sites were selected to cover a range of environmental conditions and archaeological contexts. Microscopic and physical (mercury intrusion porosimetry) analyses of these bones revealed that the majority (68%) had suffered microbial attack. Furthermore, significant differences were found between animal and human bone in both the state of preservation and the type of microbial attack present. These differences in preservation might result from differences in early taphonomy of the bones. © 2003 Elsevier Science Ltd. All rights reserved