title: Angiosarcoma in a patient with immunodeficiency, centromeric region instability, facial anomalies (ICF) syndrome.
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.
authors.affiliation: Department of Pathology, Radboud University Nijmegen Medical Center, The Netherlands.
authors.forename: Michiel
authors.initials: M
authors.lastname: van den Brand
authors.forename: Uta E
authors.initials: UE
authors.lastname: Flucke
authors.forename: Peter
authors.initials: P
authors.lastname: Bult
authors.forename: Corry M R
authors.initials: CM
authors.lastname: Weemaes
authors.forename: Marcel
authors.initials: M
authors.lastname: van Deuren
mesh_terms: D002648:Child; D002675:Child, Preschool; D020732:Cytogenetic Analysis; D005145:Face / Q000002:abnormalities; D006394:Hemangiosarcoma / Q000150:complications* / Q000473:pathology; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000150:complications; D007223:Infant; D008099:Liver / Q000473:pathology; D008297:Male; D000081207:Primary Immunodeficiency Diseases; D055815:Young Adult