Somatic DICER1 gene mutation in sporadic intraocular medulloepithelioma without pleuropulmonary blastoma syndrome.
Hum Pathol
; 46(5): 783-7, 2015 May.
Article
em En
| MEDLINE
| ID: mdl-25791583
ABSTRACT
Germline DICER1 gene mutation has been described in ocular medulloepithelioma associated with pleuropulmonary blastoma family tumor and dysplasia syndrome. We present a case of sporadic ocular medulloepithelioma in an 18-year-old woman with D1709N somatic mutation in DICER1 gene, which has not been previously described. This case highlights the potential use of DICER1 gene sequencing to resolve the diagnostic challenge in recurrent and metastatic malignant medulloepithelioma, when morphology and immunohistochemistry are inconclusive. Further studies in larger series of this type of tumor are needed to confirm the relevance of this molecular abnormality in the tumorigenesis of this embryonic-type ocular tumor.
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MEDLINE
Assunto principal:
Tumores Neuroectodérmicos Primitivos
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Mutação em Linhagem Germinativa
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Neoplasias Embrionárias de Células Germinativas
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Ribonuclease III
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RNA Helicases DEAD-box
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Neoplasias Pulmonares
Idioma:
En
Ano de publicação:
2015
Tipo de documento:
Article