[Somatic Mutations of Acquired Aplastic Anemia].
Zhongguo Yi Xue Ke Xue Yuan Xue Bao
; 44(3): 491-496, 2022 Jun.
Article
em Zh
| MEDLINE
| ID: mdl-35791949
ABSTRACT
Aplastic anemia (AA) and myelodysplastic syndrome (MDS) are clonal diseases with hemopoietic stem cell (HSC) abnormalities,which are sometimes difficult to be distinguished from each other.The development of molecular detection techniques has facilitated our understanding of the molecular pathogenesis of the two diseases.This article reviewed the somatic mutation (SM) and cytogenetic changes of AA,and analyzed their molecular relationship with MDS and their roles in disease transformation.The most common somatic change in AA is the loss of PIGA and HLA alleles,which,along with trisomy 8 and del(13q),is related to the immune pathogenesis of AA.Among the 5 most common mutations in AA,PIGA and BCOR/BCORL1 mutations are related to a good prognosis,while DNMT3A and ASXL1 mutations are likely associated with clonal evolution and a poor prognosis.The risk factors for secondary MDS after AA include SM and cytogenetic changes such as del(7q) associated with poor prognosis,prolonged disease duration after diagnosis,onset age of AA,and leukocyte telomere attrition.Although role of SM in disease progression remains unclear because of its dynamic change and unknown significance,prognostic assessment based on the monitoring of SM and clinical features may guide the treatment.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Síndromes Mielodisplásicas
/
Anemia Aplástica
Tipo de estudo:
Etiology_studies
/
Prognostic_studies
/
Risk_factors_studies
Limite:
Humans
Idioma:
Zh
Revista:
Zhongguo Yi Xue Ke Xue Yuan Xue Bao
Ano de publicação:
2022
Tipo de documento:
Article
País de afiliação:
China