Recurring translocation (10;17) and deletion (14q) in clear cell sarcoma of the kidney.
BACKGROUND
Clear cell sarcoma of the kidney (CCSK) is a prognostically unfavorable renal neoplasm of childhood. Previous cytogenetic studies of CCSK have reported balanced translocations t(10;17)(q22;p13) and t(10;17)(q11;p12). Although the tumor suppressor gene p53 is located at the chromosome 17p13 breakpoint, p53 abnormalities are rarely present in these tumors.


OBJECTIVE
To identify cytogenetic abnormalities in CCSK and correlate these findings with other clinicopathologic parameters.


METHODS
A retrospective review of CCSK patients from 1990 to 2005 was conducted at our medical center. We performed clinical and histologic review, p53 immunohistochemical and classic cytogenetics (or ploidy analysis), and p53 fluorescence in situ hybridization analyses.


RESULTS
Five male patients (age range, 6 months to 4 years) were identified with cytogenetic abnormalities. Of 3 cytogenetically informative cases, one revealed a clonal balanced translocation t(10;17)(q22;p13) and an interstitial deletion of chromosome 14, del(14)(q24.1q31.1), and the other 2 patients had normal karyotypes. Fluorescence in situ hybridization for p53 in the t(10;17) case revealed no deletion. Immunohistochemical evaluation of p53 demonstrated lack of nuclear protein accumulation in all cases.


CONCLUSIONS
Together with the published literature, our results indicate that translocation (10;17) and interstitial deletions of chromosome 14q are recurring cytogenetic lesions in CCSK. To date, 3 cases of CCSK or "sarcomatoid Wilms tumors" have been reported to exhibit t(10;17). One previously reported case of CCSK contained deletion 14q. Results of p53 immunohistochemistry and/or p53 fluorescence in situ hybridization in this report suggest lack of mutations or deletions of this tumor suppressor in these CCSK cases. The t(10;17) breakpoint and deletion of chromosome 14q24 suggest that other genes are involved in tumor pathogenesis.
Brownlee
Noel A
NA
Department of Pathology, Wake Forest University School of Medicine, Winston-Salem, NC, USA. nbrownL2@jhmi.edu
Perkins
L Allen
LA
Stewart
Will
W
Jackle
Beth
B
Pettenati
Mark J
MJ
Koty
Patrick P
PP
Iskandar
Samy S
SS
Garvin
A Julian
AJ
D002675:Child, Preschool; D002872:Chromosome Deletion; D002879:Chromosomes, Human, Pair 10; D002883:Chromosomes, Human, Pair 14; D002886:Chromosomes, Human, Pair 17; D004273:DNA, Neoplasm / Q000032:analysis; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007680:Kidney Neoplasms / Q000235:genetics*; D008297:Male; D012189:Retrospective Studies; D018227:Sarcoma, Clear Cell / Q000235:genetics*; D014178:Translocation, Genetic; D016159:Tumor Suppressor Protein p53 / Q000032:analysis
D004273:DNA, Neoplasm; D016159:Tumor Suppressor Protein p53