Angiosarcoma in a Patient With Immunodeficiency, Centromeric Region Instability, Facial Anomalies (ICF) Syndrome
Angiosarcoma in a Patient With Immunodeficiency, Centromeric Region Instability, Facial Anomalies (ICF) Syndrome
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DOI：
10.1002/ajmg.a.33831
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发表时间：
2011-03-11
影响因子：
2
通讯作者：
van Deuren, Marcel
中科院分区：
文献类型：
--
作者：
van den Brand, Michiel;Flucke, Uta E.;van Deuren, Marcel
免疫缺陷、着丝粒区域不稳定和面部畸形综合征(OMIM#242860)是一种罕见的常染色体隐性遗传病，由DNA甲基化缺陷引起。血液病和恶性疾病(巨噬细胞激活综合征、骨髓增生异常综合征和霍奇金淋巴瘤)已在3例患者中被报道。到目前为止，还没有关于上皮性或间叶性恶性肿瘤的报道。我们报告一位具有ICF综合征所有临床和实验室表现的患者，他死于肝脏转移性血管肉瘤。这是首例ICF综合征中非血液系统恶性肿瘤的报告。我们的患者发生血管肉瘤的年龄很小，这表明ICF综合征中观察到的DNA甲基化缺陷的影响。因此，随着对ICF综合征的认识和治疗水平的提高，恶性变得更加常见。(C)2011年Wiley-Liss，Inc.
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. (C) 2011 Wiley-Liss, Inc.