One to Watch: A Germ Cell Tumor Arising in an Undescended Testicle in Rubinstein-Taybi Syndrome. Issue 6 (August 2016)

• Record Type: Journal Article
• Authors: Butler, Grainne H.; Boyle, Michael; Lynch, Sally Ann; Ryan, Stephanie; McDermott, Michael; Capra, Michael
• Is Part Of: Journal of pediatric hematology/oncology. Volume 38:Issue 6(2016)
• Publication Date: 2016-08
• Subjects: tumor -- Rubinstein-Taybi -- germ cell; Pediatric hematology -- Periodicals; Tumors in children -- Periodicals; 618.9215
• DOI: 10.1097/MPH.0000000000000619
• Languages: English
• ISSNs: 1077-4114

Abstract

Abstract : A male preterm infant was born with dysmorphic features consistent with Rubinstein-Taybi syndrome (RTS). An undescended right testicle was noted on examination. At 5 months of age he developed a palpable right-sided abdominal mass and an elevated alpha-fetoprotein. Histology revealed a malignant germ cell neoplasm arising within the undescended testis. This is the first reported case of a germ cell tumor occurring in a pediatric patient with RTS. Urologic abnormalities occur in approximately 52% of RTS patients, of which cryptorchidism is the commonest. Given the frequency of undescended testes in this population, closer screening may be warranted.