Novel pathogenic variant of DICER1 in an adolescent with multinodular goiter, ovarian Sertoli-Leydig cell tumor and pineal parenchymal tumor of intermediate differentiation.
J Pediatr Endocrinol Metab
; 36(8): 782-785, 2023 Aug 28.
Article
em En
| MEDLINE
| ID: mdl-37307239
ABSTRACT
OBJECTIVES:
To present a case of a new pathogenic variant of DICER1. CASE PRESENTATION 13-year-old female with non-toxic multinodular goiter and ovarian Sertoli-Leydig cell tumor, in whom a pineal parenchymal tumor of intermediate differentiation was diagnosed. Next-generation sequencing revealed a new germline mutation in the DICER1 gene (exon 16, c2488del [pGlu830Serfs*2] in heterozygosis), establishing the diagnosis of DICER1 syndrome.CONCLUSIONS:
Mutations in the DICER1 gene cause genetic predisposition to a wide spectrum of benign or malignant tumors from childhood to adulthood.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Neoplasias Ovarianas
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Glândula Pineal
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Pinealoma
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Neoplasias Encefálicas
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Tumor de Células de Sertoli-Leydig
/
Bócio
Limite:
Adolescent
/
Adult
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Child
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Female
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Humans
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Male
Idioma:
En
Revista:
J Pediatr Endocrinol Metab
Assunto da revista:
ENDOCRINOLOGIA
/
PEDIATRIA
Ano de publicação:
2023
Tipo de documento:
Article
País de afiliação:
México