Abstract:artigo de atualização update paper Primeira submissão em 23/06/11 Última submissão em 13/07/11 Aceito para publicação em 02/08/11 Publicado em 20/12/11
“…Myeloproliferative neoplasms (MPNs) consist of a set of hematological cancers that are characterized by hyperplasia of one or more elements of the myeloid series (leukocytes, platelets, and red blood cells) with effective maturation, proliferation [ 1 , 2 , 3 ] and the possibility of progression to medullary fibrosis or leukemic transformation [ 4 ]. The global incidence is six cases per 100,000 individuals [ 5 ], affecting mostly individuals between 60 and 70 years old, and is more prevalent in white males [ 3 , 5 ].…”
Haplotype 46/1 (GGCC) consists of a set of genetic variations distributed along chromosome 9p.24.1, which extend from the Janus Kinase 2 gene to Insulin like 4. Marked by four jointly inherited variants (rs3780367, rs10974944, rs12343867, and rs1159782), this haplotype has a strong association with the development of BCR-ABL1-negative myeloproliferative neoplasms (MPNs) because it precedes the acquisition of the JAK2V617F variant, a common genetic alteration in individuals with these hematological malignancies. It is also described as one of the factors that increases the risk of familial MPNs by more than five times, 46/1 is associated with events related to inflammatory dysregulation, splenomegaly, splanchnic vein thrombosis, Budd–Chiari syndrome, increases in RBC count, platelets, leukocytes, hematocrit, and hemoglobin, which are characteristic of MPNs, as well as other findings that are still being elucidated and which are of great interest for the etiopathological understanding of these hematological neoplasms. Considering these factors, the present review aims to describe the main findings and discussions involving the 46/1 haplotype, and highlights the molecular and immunological aspects and their relevance as a tool for clinical practice and investigation of familial cases.
“…Myeloproliferative neoplasms (MPNs) consist of a set of hematological cancers that are characterized by hyperplasia of one or more elements of the myeloid series (leukocytes, platelets, and red blood cells) with effective maturation, proliferation [ 1 , 2 , 3 ] and the possibility of progression to medullary fibrosis or leukemic transformation [ 4 ]. The global incidence is six cases per 100,000 individuals [ 5 ], affecting mostly individuals between 60 and 70 years old, and is more prevalent in white males [ 3 , 5 ].…”
Haplotype 46/1 (GGCC) consists of a set of genetic variations distributed along chromosome 9p.24.1, which extend from the Janus Kinase 2 gene to Insulin like 4. Marked by four jointly inherited variants (rs3780367, rs10974944, rs12343867, and rs1159782), this haplotype has a strong association with the development of BCR-ABL1-negative myeloproliferative neoplasms (MPNs) because it precedes the acquisition of the JAK2V617F variant, a common genetic alteration in individuals with these hematological malignancies. It is also described as one of the factors that increases the risk of familial MPNs by more than five times, 46/1 is associated with events related to inflammatory dysregulation, splenomegaly, splanchnic vein thrombosis, Budd–Chiari syndrome, increases in RBC count, platelets, leukocytes, hematocrit, and hemoglobin, which are characteristic of MPNs, as well as other findings that are still being elucidated and which are of great interest for the etiopathological understanding of these hematological neoplasms. Considering these factors, the present review aims to describe the main findings and discussions involving the 46/1 haplotype, and highlights the molecular and immunological aspects and their relevance as a tool for clinical practice and investigation of familial cases.
“…Esses pacientes necessitam de rigorosos cuidados especiais quanto ao tratamento odontológico, principalmente devido às complicações consequentes dos efeitos colaterais da quimioterapia. Fica evidenciado no estudo de Zerbini (2011) 14 que é fundamental intervir nas complicações bucais da quimioterapia, pois quando estão presentes e dependendo da sua gravidade, podem comprometer o tratamento médico, afetando desde a nutrição do paciente quando a recuperação do mesmo.…”
Objetivo: revisar artigos disponíveis em periódicos científicos que exemplificassem o papel do profissional de odontologia no atendimento de manifestações bucais em pacientes com Leucemia. Metódo: tratou-se de uma revisão bibliográfica narrativa utilizando artigos selecionados datados dos anos de 2008 a 2018. Resultados: As manifestações bucais das leucemias são mais frequentes nas formas agudas, do que nas formas crônicas. O profissional da saúde deve estar sempre atento a qualquer tipo de sinal ou sintoma, assim como à constante atualização da história médica. Com o surgimento de novas técnicas que propiciem a manutenção da saúde bucal nos pacientes com algum tipo de neoplasia, hoje é possível prevenir uma doença sem que ela já esteja instalada. Conclusão: Conclui-se que a presença do profissional de odontologia na equipe oncológica pode diminuir a morbidade e a mortalidade relacionadas a complicações bucais, assim como aumentar o conforto e qualidade de vida dos pacientes durante a terapia.
“…Patients with karyotype results of onco-hematological diseases as defined by the WHO classification criteria for hematological and lymphoid neoplasms based on the morphology and specific cytogenetic alterations of each malignancy were included in this study. 11 , 12 Patients submitted to bone marrow transplantation, patients without information of their date of birth or hypothesis of neoplasm diagnosis and patients presenting symptoms or characteristics associated with neoplasms but without reference to a specific pathology were excluded from the study. Moreover, patients under chemotherapy at the first collection of oncological material and cytogenetic analysis were excluded.…”
BackgroundHematologic neoplasms are associated with mutations in hematopoietic cells and chromosomal abnormalities. During aging, about 2–3% of the elderly have chromosomal abnormalities arising from clonal mosaicism, the immune system is impaired and the bone marrow loses its ability to replace blood cells.ObjectiveTo describe the epidemiological and cytogenetic profile of hematological malignancies, highlighting the frequency of chromosomal alterations in these neoplasms associated with aging.MethodA retrospective cross-sectional study with analysis of karyotype exams results was performed in the Cytogenetic Laboratory of thee Blood Center of the Faculdade de Medicina de Marilia (FAMEMA) between 1998 and 2016. Blood samples from child and adult patients with different hematological malignancies treated in the Onco-hematology Outpatient Clinics of the local blood center and hospitals, and external clinics were tested.ResultsKaryotype exam results of 746 patients with a mean age of 54.7 years (±23.1) were analyzed. The elderly had the highest frequency of hematological malignancies (50.9%), followed by adults (38.3%) and young people (10.7%); elderly women had the highest percentage (55.0%). Normal karyotypes (46,XX/46,XY) were more common (61.8%) compared to abnormal karyotypes, especially among the elderly (56.4%). Myeloproliferative neoplasms were an exception with 67.4% of abnormal karyotypes.ConclusionThere is a higher frequency of hematological malignancies among the elderly. It is possible to conclude that failures in genomic mechanisms and hematopoiesis with aging lead to the formation of cells with the chromosomal alterations found in hematological malignancies.
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