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[PMID]: | 28742274 |
[Au] Autor: | Ma D; Yang J; Wang Y; Huang X; Du G; Zhou L |
[Ad] Endereço: | Department of Neurosurgery, Huashan Hospital, Fudan University, Shanghai, China. |
[Ti] Título: | Whole exome sequencing identified genetic variations in Chinese hemangioblastoma patients. |
[So] Source: | Am J Med Genet A;173(10):2605-2613, 2017 Oct. | [Is] ISSN: | 1552-4833 |
[Cp] País de publicação: | United States |
[La] Idioma: | eng |
[Ab] Resumo: | Hemangioblastomas (HBs) are uncommon tumors characterized by the presence of inactivating alterations in the von Hippel-Lindau (VHL) gene in inherited cases and by infrequent somatic mutation in sporadic entities. We performed whole exome sequencing on 11 HB patients to further elucidate the genetics of HBs. A total of 270 somatic variations in 219 genes, of which there were 86 mutations in 67 genes, were found in sporadic HBs, and 184 mutations were found in 154 genes in familial HBs. C: G>T: A and T: A>C: G mutations are relatively common in most HB patients. Genes harboring the most significant mutations include PCDH9, KLHL12, DCAF4L1, and VHL in sporadic HBs, and ZNF814, DLG2, RIMS1, PNN, and MUC7 in familial HBs. The frequency of CNV varied considerably within sporadic HBs but was relatively similar within familial HBs. Five genes, including OTOGL, PLCB4, SCEL, THSD4, and WWOX, have CNVs in the six patients with sporadic HBs, and three genes, including ABCA6, CWC27, and LAMA2, have CNVs in the five patients with familial HBs. We found new genetic mutations and CNVs that might be involved in HBs; these findings highlight the complexity of the tumorigenesis of HBs and pinpoint potential therapeutic targets for the treatment of HBs. |
[Mh] Termos MeSH primário: |
Grupo com Ancestrais do Continente Asiático/genética Biomarcadores Tumorais/genética Neoplasias Cerebelares/genética Exoma/genética Hemangioblastoma/genética Mutação Sequenciamento Completo do Exoma/métodos
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[Mh] Termos MeSH secundário: |
Adulto Feminino Predisposição Genética para Doença Seres Humanos Masculino Meia-Idade Prognóstico
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[Pt] Tipo de publicação: | JOURNAL ARTICLE |
[Nm] Nome de substância:
| 0 (Biomarkers, Tumor) |
[Em] Mês de entrada: | 1802 |
[Cu] Atualização por classe: | 180207 |
[Lr] Data última revisão:
| 180207 |
[Sb] Subgrupo de revista: | IM |
[Da] Data de entrada para processamento: | 170726 |
[St] Status: | MEDLINE |
[do] DOI: | 10.1002/ajmg.a.38350 |
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