RENAL-CELL CARCINOMA WITH X-1 TRANSLOCATION IN A CHILD WITH KLINEFELTER-SYNDROME

Klinefelter syndrome (KS) is a sex chromosome abnormality occurring in 1 in 1,000 males. An association with leukemia, germ cell tumor, and male breast cancer has been suggested in KS. Such information is impor tant for professionals caring for KS patients as the condition is freq uently not clinically recognizable until after puberty. We report on a renal cell carcinoma (RCC) in a 10-year-old boy with KS, He developed intermittent hematuria at age 10 years and was diagnosed with a right kidney mass, which on pathology was identified as RCC, In addition, h e was known to have learning disabilities and language delays, Analysi s of peripheral blood chromosomes showed a 47,XXY karyotype while anal ysis of tumor cells demonstrated clonal abnormalities including a tran slocation between chromosomes X and 1, designated 47,XXYc,t(X;1)(p11.2 ;q21)[6]/ 47,XXYc,t(X;1),r(Xp)[2]/46,XXYc,-X,t(X;1)[7]. Renal cell car cinoma is rare in childhood and is not previously reported in KS. The oncogenetic significance of the chromosomal regions involved in this t ranslocation is discussed in relation to the congenital abnormality of the patient. (C) 1998 Wiley-Liss, Inc.