title: Isolated Large Cell Calcifying Sertoli Cell Tumor in a Young Boy, not Associated with Peutz-Jeghers Syndrome or Carney Complex.
abstract: BACKGROUND
  Large cell calcifying sertoli cell tumor (LCCSCT) is an exceedingly rare lesion of the testicle. It is most often seen in patients with Carney complex (CNC) or Peutz-Jeghers syndrome (PJS). We now report the first pediatric patient with what appears to be bilateral LCCSCT and no other conditions or a genetic syndrome, such as PJS or CNC, have been associated with it.
  
  
  METHODS
  A 10-year-old boy was found to have a right testicular mass during a routine pediatric examination; he underwent right orchiectomy. He was then evaluated clinically for PJS or CNC and underwent genetic testing. His tumor was studied by immunohistochemistry for the expression of calretinin, NY-ESO-1, inhibin, CD99, S100, PLAP, AE1/AE3, Bcl-2, p53, and Mib1.
  
  
  RESULTS
  Patient did not have clinical features or genetic abnormalities of CNC and PJS. Microscopic features showed large, round or cubical intratubular and aggregated tumor cells with prominent nuclear atypia, large and prominent nucleoli and extensive calcification. In the Immunohistochemical studies, calretinin and inhibin alpha were up regulated in LCCSCT as compared to the adjacent benign Sertoli cells. Meanwhile, NY-ESO-1 and CD99 were down-regulated in LCCSCT. Focally and weakly positive S100 was found in the tumor tissue, but no S100 expression was present in the adjacent Sertoli cells. There was no expression of PLAP, P53, Bcl-2, Mib1 and AE1/AE3 in LCCSCT and adjacent Sertoli cells. Micro-calcifications were found in the other gonad by ultrasonography, suggesting LCCSCT.
  
  
  CONCLUSIONS
  LCCSCT is a rare testicular neoplasm, and may present in isolated rather than in more typical association with syndromes such as CNC and PJS.
authors.affiliation: Laboratory of Pathology, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, USA ; Department of Pathology, Saint Louis University School of Medicine, St Louis, MO 63104, USA.
authors.forename: Jin-Ping
authors.initials: JP
authors.lastname: Lai
authors.affiliation: Laboratory of Pathology, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, USA.
authors.forename: Chyi-Chia
authors.initials: CC
authors.lastname: Lee
authors.affiliation: Section on Endocrinology and Genetics, Program on Developmental Endocrinology Genetics (PDEGEN), Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), USA ; Inter-Institute Pediatric Endocrinology Training Program, National Institutes of Health (NIH), Bethesda, MD 20892, USA.
authors.forename: Melissa
authors.initials: M
authors.lastname: Crocker
authors.affiliation: Department of Pathology, Saint Louis University School of Medicine, St Louis, MO 63104, USA.
authors.forename: Mufaddal
authors.initials: M
authors.lastname: Najmuddin
authors.affiliation: Section on Endocrinology and Genetics, Program on Developmental Endocrinology Genetics (PDEGEN), Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), USA ; Inter-Institute Pediatric Endocrinology Training Program, National Institutes of Health (NIH), Bethesda, MD 20892, USA.
authors.forename: Eileen
authors.initials: E
authors.lastname: Lange
authors.affiliation: Laboratory of Pathology, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, USA.
authors.forename: Maria
authors.initials: M
authors.lastname: Merino
authors.affiliation: Section on Endocrinology and Genetics, Program on Developmental Endocrinology Genetics (PDEGEN), Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), USA ; Inter-Institute Pediatric Endocrinology Training Program, National Institutes of Health (NIH), Bethesda, MD 20892, USA.
authors.forename: Constantine A
authors.initials: CA
authors.lastname: Stratakis
keywords: Carney complex; Large cell calcifying sertoli cell tumor