Angiosarcoma in a patient with immunodeficiency, centromeric region instability, facial anomalies (ICF) syndrome.
Am J Med Genet A
; 155A(3): 622-5, 2011 Mar.
Article
em En
| MEDLINE
| ID: mdl-21337690
ABSTRACT
The Immunodeficiency, Centromeric region instability, and Facial anomalies (ICF) syndrome (OMIM #242860) is a rare autosomal recessive disorder caused by defective DNA methylation. Hematological disease and malignancy (macrophage activation syndrome, myelodysplastic syndrome, and Hodgkin lymphoma) have been reported in three patients. To date, there have been no reports of either epithelial or mesenchymal malignancies. We present a patient with all clinical and laboratory findings of the ICF syndrome who died of a metastatic angiosarcoma of the liver. This is the first report of a non-hematological malignancy in the ICF syndrome. The young age at which our patient developed an angiosarcoma suggests an effect of the defective DNA methylation observed in the ICF syndrome. Therefore, with improvement of recognition and treatment of the ICF syndrome, malignancy could become more common in this condition.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Hemangiossarcoma
Limite:
Adult
/
Child
/
Child, preschool
/
Humans
/
Infant
/
Male
Idioma:
En
Revista:
Am J Med Genet A
Assunto da revista:
GENETICA MEDICA
Ano de publicação:
2011
Tipo de documento:
Article
País de afiliação:
Holanda