Department of Pathology and Laboratory Medicine, Drexel University College of Medicine and St. Christopher's Hospital for Children, Philadelphia, PA, USA.
Mod Pathol. 2013 Feb;26(2):275-81. doi: 10.1038/modpathol.2012.120. Epub 2012 Sep 14.
The ossifying renal tumor of infancy is a rare neoplasm diagnosed in the first 2 years of life, predominantly in boys. The neoplasm is primarily characterized by the presence of a large ossifying component. Its most common mode of presentation is hematuria, and it has a uniformly benign behavior. The karyotypic makeup of the process has not been reported. Thus, a study was undertaken and it allowed demonstration of clonal trisomy 4, which was confirmed by the fluorescent in-situ hybridization-probing of two additional archival formalin-fixed, paraffin-imbedded similar tumors. On the basis of the findings in these three cases, it seems that clonal trisomy 4 may be considered as a characteristic of the tumor, which makes it distinct from any other infantile renal tumor.
婴儿骨化性肾肿瘤是一种罕见的肿瘤，主要发生在 2 岁以内的婴儿，男孩多见。肿瘤的主要特征是存在大量骨化成分。其最常见的表现形式是血尿，且行为均为良性。该过程的核型组成尚未报道。因此，进行了一项研究，该研究显示存在克隆性三体 4，通过对另外两个存档的福尔马林固定、石蜡包埋的类似肿瘤进行荧光原位杂交探测，证实了这一点。基于这三个病例的研究结果，克隆性三体 4 似乎可以被认为是该肿瘤的特征，使其与任何其他婴儿肾肿瘤区分开来。
