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Clonal trisomy 4 cells detected in the ossifying renal tumor of infancy: study of 3 cases
Author(s) -
Jinglan Liu,
Miguel Guzmán,
Bruce Pawel,
Donna Pezanowski,
Dilipkumar M. Patel,
Jonathan A. Roth,
Gregory E. Halligan,
JeanPierre de Chadarévian
Publication year - 2012
Publication title -
modern pathology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.596
H-Index - 153
eISSN - 1530-0285
pISSN - 0893-3952
DOI - 10.1038/modpathol.2012.120
Subject(s) - pathology , trisomy , neoplasm , trisomy 8 , renal tumor , medicine , biology , karyotype , kidney , chromosome , nephrectomy , genetics , gene
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.

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