Ovarian carcinoma in children with constitutional mutation of SMARCA4: single-family report and literature review.
Fam Cancer
; 20(4): 355-362, 2021 10.
Article
em En
| MEDLINE
| ID: mdl-33907931
ABSTRACT
Ovarian carcinoma is an extremely rare malignancy in children, often developing on the underlying inherited background. Female carriers of pathogenic germline mutations of SMARCA4 are at risk of an aggressive type of undifferentiated ovarian cancer called small cell carcinoma of the ovary, hypercalcemic type (SCCOHT). Regardless of age of the patient, stage of the disease, and oncological treatment, the prognosis for SCCOHT is poor. Therefore, early intervention with risk-reducing surgeries is recommended for these patients. In this study, we report genetic testing of a family with two children carrying pathogenic germline mutations of SMARCA4 and summarize the course of SCCOHT in all pediatric patients reported in the literature with constitutional defects identified within the SMARCA4 locus.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Neoplasias Ovarianas
/
Fatores de Transcrição
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Proteínas Nucleares
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DNA Helicases
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Hipercalcemia
Tipo de estudo:
Prognostic_studies
/
Systematic_reviews
Limite:
Child
/
Female
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Humans
Idioma:
En
Revista:
Fam Cancer
Assunto da revista:
NEOPLASIAS
Ano de publicação:
2021
Tipo de documento:
Article
País de afiliação:
Polônia