A carregar...
Publicação
Neoplasias mieloproliferativas BCR::ABL1 negativas: importância do diagnóstico hematológico e molecular
| Nome: | Descrição: | Tamanho: | Formato: | |
|---|---|---|---|---|
| 5.98 MB | Adobe PDF |
Autores
Resumo(s)
Este trabalho de final de curso encontra-se dividido em duas partes: relatório de estágio e monografia. A primeira parte trata-se do relatório de estágio curricular realizado no Laboratório de Análises Clínicas UNILABS nas valências laboratoriais de Microbiologia, Bioquímica e Genética. A segunda parte trata-se de uma revisão da literatura sobre o tema “Neoplasias mieloproliferativas BCR::ABL1 negativas: importância do diagnóstico hematológico e molecular”.
As neoplasias mieloproliferativas são um grupo heterogéneo de doenças que têm origem numa célula progenitora hematopoiética multipotente em que ocorre proliferação clonal da linhagem mieloide sem displasia significativa e com tendência para hematopoiese extramedular, fibrose e transformação leucémica. De acordo com a classificação da Organização Mundial de Saúde - WHO, as neoplasias mieloproliferativas englobam as seguintes doenças: Leucemia mieloide crónica, Policitemia vera, Trombocitose essencial, Mielofibrose primária, Leucemia neutrofílica crónica, Leucemia eosinofílica crónica, Leucemia mielomonocítica juvenil e Neoplasias mieloproliferativas sem outras especificações. Encontram-se divididas em dois grupos: as BCR::ABL1 positivas, em que se insere a Leucemia mieloide crónica, e as BCR::ABL1 negativas que incluem as demais neoplasias mieloproliferativas.
O diagnóstico das neoplasias mieloproliferativas é realizado de acordo com as diretrizes da WHO que englobam avaliações das características clínicas e laboratoriais, com ênfase nos resultados do hemograma, análises bioquímicas, mielograma, biópsia de medula óssea e exames genéticos. Este diagnóstico é de extrema importância e tem um impacto direto no prognóstico e tratamento destes pacientes, bem como no seu acompanhamento, pois podem surgir complicações e uma potencial evolução para uma Leucemia mieloide aguda.
A segunda parte deste trabalho, referente à monografia, pretende rever e selecionar as informações mais relevantes sobre o tema, discorrendo sobre a evolução dos critérios de classificação da WHO e como foram atualizados ao longo dos anos. Enfatiza, ainda, os métodos laboratoriais e, principalmente, os métodos moleculares de diagnóstico aplicados às doenças mieloproliferativas. Métodos estes que vêm, cada vez mais, sendo uma ferramenta importante para o diagnóstico correto e atempado das doenças mieloproliferativas.
This final course assignment is divided into two parts: the internship report and a monograph. The first part consists of the internship report carried out at the UNILABS Clinical Analysis Laboratory in the laboratory fields of Microbiology, Biochemistry, and Genetics. While the second part consists of a literature review on the topic " BCR::ABL1 negative myeloproliferative neoplasms: importance of hematologic and molecular diagnosis". Myeloproliferative neoplasms are a heterogeneous group of diseases originated from a multipotent hematopoietic progenitor cell in which it occurs clonal proliferation of the myeloid lineage without significant dysplasia and with a tendency for extramedullary hematopoiesis, fibrosis, and leukemic transformation. According to the World Health Organization - WHO criteria, myeloproliferative neoplasms include Chronic Myeloid Leukemia, Polycythemia Vera, Essential Thrombocythemia, Primary Myelofibrosis, Chronic Neutrophilic Leukemia, Chronic Eosinophilic Leukemia, Juvenile Myelomonocytic Leukemia, and unspecified myeloproliferative neoplasms. They are divided into two groups: BCR::ABL1 positive, including Chronic Myeloid Leukemia, and BCR::ABL1 negative, including the other myeloproliferative neoplasms. Diagnosis of myeloproliferative neoplasms are made according to World Health Organization guidelines, which involve clinical assessments and laboratorial analysis comprised of complete blood count, biochemical analyses, bone marrow examination, and genetic tests. Diagnosing myeloproliferative neoplasms is very important in treatment of patients since it allows for close monitoring of complications and potential progression to Acute Myeloid Leukemia. The second part of this assignment, which is the monograph, aims to review relevant information on the topic, discussing the evolution of World Heath Organization classification criteria over the years and how they were updated. Also emphasizes the laboratory methods of analysis, with particular emphasis to the molecular diagnostic methods applied to myeloproliferative disorders, which is proving to serve as an important tool for accurate early diagnosis.
This final course assignment is divided into two parts: the internship report and a monograph. The first part consists of the internship report carried out at the UNILABS Clinical Analysis Laboratory in the laboratory fields of Microbiology, Biochemistry, and Genetics. While the second part consists of a literature review on the topic " BCR::ABL1 negative myeloproliferative neoplasms: importance of hematologic and molecular diagnosis". Myeloproliferative neoplasms are a heterogeneous group of diseases originated from a multipotent hematopoietic progenitor cell in which it occurs clonal proliferation of the myeloid lineage without significant dysplasia and with a tendency for extramedullary hematopoiesis, fibrosis, and leukemic transformation. According to the World Health Organization - WHO criteria, myeloproliferative neoplasms include Chronic Myeloid Leukemia, Polycythemia Vera, Essential Thrombocythemia, Primary Myelofibrosis, Chronic Neutrophilic Leukemia, Chronic Eosinophilic Leukemia, Juvenile Myelomonocytic Leukemia, and unspecified myeloproliferative neoplasms. They are divided into two groups: BCR::ABL1 positive, including Chronic Myeloid Leukemia, and BCR::ABL1 negative, including the other myeloproliferative neoplasms. Diagnosis of myeloproliferative neoplasms are made according to World Health Organization guidelines, which involve clinical assessments and laboratorial analysis comprised of complete blood count, biochemical analyses, bone marrow examination, and genetic tests. Diagnosing myeloproliferative neoplasms is very important in treatment of patients since it allows for close monitoring of complications and potential progression to Acute Myeloid Leukemia. The second part of this assignment, which is the monograph, aims to review relevant information on the topic, discussing the evolution of World Heath Organization classification criteria over the years and how they were updated. Also emphasizes the laboratory methods of analysis, with particular emphasis to the molecular diagnostic methods applied to myeloproliferative disorders, which is proving to serve as an important tool for accurate early diagnosis.
Descrição
Tese de mestrado, Análises Clínicas, 2024, Universidade de Lisboa, Faculdade de Farmácia.
Palavras-chave
Neoplasias mieloproliferativas Diagnóstico hematológico Diagnóstico molecular Teses de mestrado - 2024