Exome sequence analysis of Kaposiform hemangioendothelioma: identification of putative driver mutations
An. bras. dermatol
;
91(6): 748-753, Nov.-Dec. 2016. tab, graf
Article
in English
| LILACS
| ID: biblio-837985
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.
Full text:
Available
Index:
LILACS (Americas)
Main subject:
Mutation, Missense
/
Kasabach-Merritt Syndrome
/
Exome
/
Hemangioendothelioma
Type of study:
Diagnostic study
/
Prognostic study
Limits:
Child, preschool
/
Humans
/
Male
Language:
English
Journal:
An. bras. dermatol
Journal subject:
Dermatology
Year:
2016
Type:
Article
Affiliation country:
Japan
Institution/Affiliation country:
Kumamoto University/JP
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