UT Pediatric Residency Program, UTHSC, Memphis, Tennessee, USA.
Am J Med Genet A. 2011 May;155A(5):1162-4. doi: 10.1002/ajmg.a.33957. Epub 2011 Mar 31.
22q11.2 deletion syndrome is the most common microdeletion syndrome. Wilms tumor is one of the most common solid tumors in childhood yet 22q11.2 deletion and Wilms tumor only once have been reported in the same patient. Here we describe a young patient with subtle clinical findings suggestive of 22q11.2 at the time of diagnosis who subsequently developed Wilms tumor. We assert the importance of a low threshold for screening for 22q11.2 deletion and the associated phenotypes and maintaining vigilance in screening for common primary malignancies in patients with known 22q11.2 deletion.
22q11.2 缺失综合征是最常见的微缺失综合征之一。肾母细胞瘤是儿童期最常见的实体肿瘤之一，但 22q11.2 缺失和肾母细胞瘤仅在同一患者中报告过一次。在这里，我们描述了一位年轻患者，其诊断时的临床特征提示存在 22q11.2 缺失，随后发展为肾母细胞瘤。我们强调了在已知 22q11.2 缺失的患者中筛查 22q11.2 缺失及其相关表型的重要性，以及对常见原发性恶性肿瘤进行筛查的警惕性。
