O estudo do mieloma múltiplo e suas principais alterações genéticas
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Data
2023-12
Tipo de documento
Artigo Científico
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Área do conhecimento
Modalidade de acesso
Acesso aberto
Editora
Autores
FRAZÃO, Daiane da Silva
SACCONI, Laura Monteiro
Orientador
DASTOLI, Alesandra Finardi
Coorientador
Resumo
O Mieloma Múltiplo (MM) é uma neoplasia maligna de plasmócitos com envolvimento de múltiplos sítios esqueléticos. Caracteriza-se por expansão clonal plasmocitária na medula óssea e produção de imunoglobulina monoclonal. (Silva et al, 2009) As principais características genéticas das discrasias de células plasmáticas que podem ocorrer no Mieloma Múltiplo (MM) incluem aberrações cromossômicas, como translocações e hiperdiploidia, que ocorrem durante processos fisiológicos, sendo propensos a erros no desenvolvimento de células B. (Heider et al. 2021) Segundo a Associação Brasileira de Linfomas e Leucemias, o MM corresponde a 1% de todos os tipos de câncer e no Brasil e afeta quatro a cada 10 mil brasileiros, com 7.500 novos casos por ano. Ao contrário de outras malignidades de células B, acredita-se que os erros de CSR (recombinação de troca de classes) causem principalmente translocações no MM (Heider et al. 2021). No desenvolvimento do trabalho, foram notadas semelhanças entre as translocações e a progressão da doença. Pôde-se observar que, independentemente do lócus afetado, a consequência da alteração citogenética resultava na proliferação anormal das células do MM. O presente trabalho tem como objetivo avaliar as possíveis predisposições genéticas para a neoplasia denominada mieloma múltiplo por meio de uma revisão bibliográfica de artigos científicos e trabalhos de conclusão de curso abordando as suas principais translocações genéticas associadas à prevalência e sobrevida da doença.
Multiple Myeloma (MM) is a malignant neoplasm of plasma cells involving multiple skeletal sites. It is characterized by plasma cell clonal expansion in the bone marrow and production of monoclonal immunoglobulin (Silva et al, 2009). The main genetic characteristics of plasma cell dyscrasias that can occur in Multiple Myeloma (MM) include chromosomal aberrations, such as translocations and hyperdiploidy, which occur during physiological processes, and are prone to errors in B-cell development (Heider et al. 2021). According to the Brazilian Association of Lymphomas and Leukemias, MM accounts for 1% of all types of cancer in Brazil and affects four out of every 10,000 Brazilians, with 7,500 new cases per year. Unlike other B-cell malignancies, it is believed that CSR (class switch recombination) errors mainly cause translocations in MM (Heider et al. 2021). In the development of the work, similarities were noted between translocations and the progression of the disease. It was observed that, regardless of the locus affected, the consequence of the cytogenetic alteration was the abnormal proliferation of MM cells. The aim of this study is to evaluate the possible genetic predispositions for the neoplasm known as multiple myeloma by means of a bibliographical review of scientific articles and end-of-course papers, addressing the main genetic translocations associated with the prevalence and survival of the disease.
Multiple Myeloma (MM) is a malignant neoplasm of plasma cells involving multiple skeletal sites. It is characterized by plasma cell clonal expansion in the bone marrow and production of monoclonal immunoglobulin (Silva et al, 2009). The main genetic characteristics of plasma cell dyscrasias that can occur in Multiple Myeloma (MM) include chromosomal aberrations, such as translocations and hyperdiploidy, which occur during physiological processes, and are prone to errors in B-cell development (Heider et al. 2021). According to the Brazilian Association of Lymphomas and Leukemias, MM accounts for 1% of all types of cancer in Brazil and affects four out of every 10,000 Brazilians, with 7,500 new cases per year. Unlike other B-cell malignancies, it is believed that CSR (class switch recombination) errors mainly cause translocations in MM (Heider et al. 2021). In the development of the work, similarities were noted between translocations and the progression of the disease. It was observed that, regardless of the locus affected, the consequence of the cytogenetic alteration was the abnormal proliferation of MM cells. The aim of this study is to evaluate the possible genetic predispositions for the neoplasm known as multiple myeloma by means of a bibliographical review of scientific articles and end-of-course papers, addressing the main genetic translocations associated with the prevalence and survival of the disease.
Palavras-chave
mieloma múltiplo, translocações do mieloma múltiplo, alterações moleculares, tratamento, diagnóstico