Sequencing of DICER1 in sarcomas identifies biallelic somatic DICER1 mutations in an adult-onset embryonal rhabdomyosarcoma.
Br J Cancer
; 116(12): 1621-1626, 2017 Jun 06.
Article
em En
| MEDLINE
| ID: mdl-28524158
ABSTRACT
BACKGROUND:
Sarcomas are rare and heterogeneous cancers. We assessed the contribution of DICER1 mutations to sarcoma development.METHODS:
The coding region of DICER1 was sequenced in 67 sarcomas using a custom Fluidigm Access Array. The RNase III domains were Sanger sequenced in six additional sarcomas to identify hotspot DICER1 variants.RESULTS:
The median age of sarcoma diagnosis was 45.7 years (range 3 months to 87.4 years). A recurrent embryonal rhabdomyosarcoma (ERMS) of the broad ligament, first diagnosed at age 23 years, harboured biallelic pathogenic somatic DICER1 variants (1 truncating and 1 RNase IIIb missense). We identified nine other DICER1 variants. One somatic variant (p.L1070V) identified in a pleomorphic sarcoma and one germline variant (c.2257-7A>G) may be pathogenic, but the others are considered to be benign.CONCLUSIONS:
We show that deleterious DICER1 mutations underlie the genetic basis of only a small fraction of sarcomas, in particular ERMS of the urogenital tract.
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Base de dados:
MEDLINE
Assunto principal:
Sarcoma de Ewing
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DNA de Neoplasias
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Rabdomiossarcoma Embrionário
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Ribonuclease III
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RNA Helicases DEAD-box
Idioma:
En
Ano de publicação:
2017
Tipo de documento:
Article