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Angiosarcoma in a patient with immunodeficiency, centromeric region instability, facial anomalies (ICF) syndrome
Author(s) -
van den Brand Michiel,
Flucke Uta E.,
Bult Peter,
Weemaes Corry M.R.,
van Deuren Marcel
Publication year - 2011
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.33831
Subject(s) - malignancy , angiosarcoma , medicine , macrophage activation syndrome , immunodeficiency , lymphoma , chromosome instability , pathology , disease , immunology , biology , genetics , gene , immune system , chromosome
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. © 2011 Wiley‐Liss, Inc.