Synchronous Bilateral Breast Carcinoma in a Patient with Cowden Syndrome with PTEN Mutation: A Case Report
Journal of Breast Disease
;
(2): 79-83, 2018.
Artículo
en Inglés
| WPRIM
| ID: wpr-718900
ABSTRACT
Cowden syndrome (CS), also known as multiple hamartomas syndrome, is a rare hereditary autosomal dominant disorder caused by a germline mutation in the phosphatase and tensin homolog (PTEN) gene mapped on chromosome 10. The clinical features of CS are variable, primarily presenting as mucocutaneous lesions (99%). A mucocutaneous lesion, such as trichilemmoma of the face or keratosis of the extremities, is an important diagnostic marker for CS. CS has been reported to increase the incidence of benign and malignant neoplasms in the breast, thyroid, and gastrointestinal tract. The risk of developing malignancy in individuals with CS is up to 10 times higher than general population throughout an entire life time.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Glándula Tiroides
/
Cromosomas Humanos Par 10
/
Síndrome de Hamartoma Múltiple
/
Mama
/
Neoplasias de la Mama
/
Incidencia
/
Mutación de Línea Germinal
/
Tracto Gastrointestinal
/
Extremidades
/
Hamartoma
Tipo de estudio:
Estudio de incidencia
/
Estudio pronóstico
Límite:
Humanos
Idioma:
Inglés
Revista:
Journal of Breast Disease
Año:
2018
Tipo del documento:
Artículo
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