Exome sequence analysis of kaposiform hemangioendothelioma: Identification of putative driver mutations

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. ©2016 by anais brasileiros de dermatologia.