| Journal: | Anais brasileiros de dermatologia |
| Database: | PERIÓDICA |
| System number: | 000404087 |
| ISSN: | 0365-0596 |
| Authors: | Egashira, Sho1 Jinnin, Masatoshi1 Harada, Miho1 Masuguchi, Shinichi1 Fukushima, Satoshi1 Ihn, Hironobu1 |
| Institutions: | 1Kumamoto University, Faculty of Life Sciences, Kumamoto, Kyusyu. Japón |
| Year: | 2016 |
| Season: | Nov-Dic |
| Volumen: | 91 |
| Number: | 6 |
| Pages: | 748-753 |
| Country: | Brasil |
| Language: | Inglés |
| Document type: | Artículo |
| Approach: | Analítico, descriptivo |
| English abstract | 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 |
| Disciplines: | Medicina |
| Keyword: | Dermatología, Oncología, Genética, Mutaciones génicas, Exoma, Secuencia génica, Hemangioendotelioma |
| Keyword: | Medicine, Dermatology, Oncology, Genetics, Gene mutations, Exome, Gene sequence, Hemangioendothelioma |
| Full text: | Texto completo (Ver HTML) |
