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

• Main Authors: Sho Egashira (Author), Masatoshi Jinnin (Author), Miho Harada (Author), Shinichi Masuguchi (Author), Satoshi Fukushima (Author), Hironobu Ihn (Author)
• Format: Book
• Published: Sociedade Brasileira de Dermatologia, 2016-12-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Summary

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.

Item Description

0365-0596
10.1590/abd1806-4841.20165026