Exome sequence analysis of Kaposiform hemangioendothelioma: identification of putative driver mutations
An. bras. dermatol
; 91(6): 748-753, Nov.-Dec. 2016. tab, graf
Artigo
em Inglês
| LILACS
| ID: biblio-837985
Biblioteca responsável:
BR1.1
ABSTRACT
Abstract BACKGROUND:
Kaposiform hemangioendothelioma is a rare, intermediate, malignant tumor. The tumor's etiology remains unknown and there are no specific treatments.OBJECTIVE:
In this study, we performed exome sequencing using DNA from a Kaposiform hemangioendothelioma patient, and found putative candidates for the responsible mutations.METHOD:
The genomic DNA for exome sequencing was obtained from the tumor tissue and matched normal tissue from the same individual. Exome sequencing was performed on HiSeq2000 sequencer platform.RESULTS:
Among oncogenes, germline missense single nucleotide variants were observed in the TP53 and APC genes in both the tumor and normal tissue. As tumor-specific somatic mutations, we identified 81 candidate genes, including 4 nonsense changes, 68 missense changes and 9 insertions/deletions. The mutations in ITGB2, IL-32 and DIDO1 were included in them.CONCLUSION:
This is a pilot study, and future analysis with more patients is needed to clarify the detailed pathogenesis of this tumor, the novel diagnostic methods by detecting specific mutations, and the new therapeutic strategies targeting the mutation.
Texto completo:
Disponível
Coleções:
Bases de dados internacionais
Base de dados:
LILACS
Assunto principal:
Mutação de Sentido Incorreto
/
Síndrome de Kasabach-Merritt
/
Exoma
/
Hemangioendotelioma
Tipo de estudo:
Estudo diagnóstico
/
Estudo prognóstico
Limite:
Criança, pré-escolar
/
Humanos
/
Masculino
Idioma:
Inglês
Revista:
An. bras. dermatol
Assunto da revista:
Dermatologia
Ano de publicação:
2016
Tipo de documento:
Artigo
País de afiliação:
Japão
Instituição/País de afiliação:
Kumamoto University/JP