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

• Published in: American journal of medical genetics Vol. 77; no. 4; pp. 281 - 284
• Main Authors: Yenamandra, Aswani, Zhou, Xianting, Trinchitella, Lisa, Susin, Myron, Sastry, Sujatha, Mehta, Lakshmi
• Format: Journal Article
• Language: English
• Published: New York John Wiley & Sons, Inc 26-05-1998; Wiley-Liss
• Subjects: Biological and medical sciences; Carcinoma, Renal Cell - complications; Carcinoma, Renal Cell - genetics; Child; Chromosomes, Human, Pair 1; Gynecology. Andrology. Obstetrics; Humans; Kidney Neoplasms - complications; Kidney Neoplasms - genetics; Klinefelter syndrome; Klinefelter Syndrome - complications; Klinefelter Syndrome - genetics; Male; Male and female genital diseases. Gonadal dysgenesis. Hermaphroditism. Sex hormones resistance; Medical sciences; renal cell carcinoma; sex chromosome aneuploidy; t(X; t(X;1); Translocation, Genetic; X Chromosome; Chromosomal aberration; Endocrinopathy; Adenocarcinoma; Klinefelter syndrome; Aneuploidy; Supernumerary X chromosome; Kidney; Abnormal chromosome A1; Diagnosis; Male genital diseases; Child; Tumor cell; Chromosome translocation; Human; Kidney disease; Urinary system disease; Abnormal X chromosome; Exploration; Malignant tumor; Hypogonadism; Case study; Concomitant disease; Phenotype; Malformation; Abnormal chromosome; Karyotype
• ISSN: 0148-7299; 1096-8628
• DOI: 10.1002/(SICI)1096-8628(19980526)77:4<281::AID-AJMG6>3.0.CO;2-Q

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,XXYc,‐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. Am. J. Med. Genet. 77:281–284, 1998. © 1998 Wiley‐Liss, Inc.