Renal cell carcinoma with X;1 translocation in a child with Klinefelter syndrome

Abstract

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 important for professionals caring for KS patients as the condition is frequently 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, he was known to have learning disabilities and language delays. Analysis of peripheral blood chromosomes showed a 47,XXY karyotype while analysis of tumor cells demonstrated clonal abnormalities including a translocation between chromosomes X and 1, designated 47,XXYc,t(X;1)(p11.2;q21)[6]/47,XXYc,t(X;1),r(Xp)[2]/46,X XYc,-X,t(X;1)[7]. Renal cell carcinoma is rare in childhood and is not previously reported in KS. The oncogenetic significance of the chromosomal regions involved in this translocation is discussed in relation to the congenital abnormality of the patient.

Pediatric Renal Cell Carcinoma

“…5 Moreover, multiple chromosomal translocation partners can be fused to TFE3 at Xp11.2 in this subset of RCCs. The 2 most common forms are the t(X;17)(p11.2;q25) translocation that fuses the transcription factor gene TFE3 with the ASPL gene on 17q25, [6][7][8][9][10][11][12][13][14][15] and the t(X;1)(p11.2;q21) or the t(X;1)(p11.2;p34) that fuses the TFE3 transcription factor gene on Xp11.2 with the PRCC gene at 1q21.2 [14][15][16][17][18][19][20][21][22][23][24][25][26][27] or the PSF gene on 1p34. 6,8,14,[28][29][30][31] The rarer forms of chromosomal abnormalities that involve TFE3 at Xp11.2 are the TFE3 fusions with NonO at Xq12, 31 del(X)(p11), 31 inv(X)(p11.2), 31 and an unknown gene at 10q23.…”