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

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. Th...

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Bibliographic Details
Published in:Modern pathology 2013-02, Vol.26 (2), p.275-281
Main Authors: Liu, Jinglan, Guzman, Miguel A, Pawel, Bruce R, Pezanowski, Donna M, Patel, Dilipkumar M, Roth, Jonathan A, Halligan, Gregory E, de Chadarévian, Jean-Pierre
Format: Article
Language:English
Subjects:
Chromosomes
Chromosomes, Human, Pair 4
Hematuria
Humans
Hybridization
Infant
Kidney Neoplasms - genetics
Kidney Neoplasms - pathology
Male
Medicine
Ossification, Heterotopic - genetics
Ossification, Heterotopic - pathology
Pathology
Trisomy - genetics
Trisomy - pathology
Tumors
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Summary: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.
ISSN:0893-3952
1530-0285
DOI:10.1038/modpathol.2012.120