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Clonal trisomy 4 cells detected in the ossifying renal tumor of infancy: study of 3 cases

2012; Elsevier BV; Volume: 26; Issue: 2 Linguagem: Inglês

10.1038/modpathol.2012.120

1530-0285

Jinglan Liu, Miguel Guzmán, Bruce Pawel, Donna Pezanowski, Dilipkumar M. Patel, Jonathan A. Roth, Gregory E. Halligan, Jean‐Pierre de Chadarévian,

Genetic and Kidney Cyst Diseases

Abstract 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.