Exome sequence analysis of Kaposiform hemangioendothelioma: identification of putative driver mutations

• Autor(a) principal: Egashira,Sho
• Data de Publicação: 2016
• Outros Autores: Jinnin,Masatoshi, Harada,Miho, Masuguchi,Shinichi, Fukushima,Satoshi, Ihn,Hironobu
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Anais brasileiros de dermatologia (Online)
• Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0365-05962016000600748
• topic: Exome; Hemangioendothelioma; Mutation

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.