Large-cell calcifying Sertoli cell tumors of the testes in pediatrics.
OBJECTIVE
The aim of this review is to describe the clinical, biochemical, radiographic, histological, and functional characteristics of large-cell calcifying Sertoli cell tumors of the testes (LCCSCTs). We describe the two main syndromes associated with these tumors: Peutz-Jeghers syndrome (PJS) caused mainly by mutations in the STK11 (aka LKB1) gene, which encodes a serine-threonine kinase, and Carney complex (CNC), which is most often caused by PRKAR1A mutations, the gene encoding regulatory subunit type 1 of protein kinase A.


RESULTS
Relatively few patients have been reported in the literature with LCCSCTs. In children they often present as prepubertal and/or peripubertal gynecomastia. Although these tumors are very rare, they occur with higher frequency among patients with PJS and CNC. Orchiectomy was often performed in the past; however, these tumors are overwhelmingly benign and, unless there are significant hormonal changes or pain and/or mass effects, there is no need for surgery. Tumors that lead to hyperestrogenemia may be treated efficiently with aromatase inhibitors; any change in appearance should prompt evaluation for malignancy.


CONCLUSIONS
The detection of LCCSCTs may point to an underlying genetic multiple neoplasia syndrome such as PJS or CNC. Surgery is rarely indicated and aromatase inhibitors constitute an effective treatment for those cases that are associated with gynecomastia and/or advanced skeletal age.
Program on Developmental Endocrinology and Genetics, Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA.
Evgenia
E
Gourgari
Emmanouil
E
Saloustros
Constantine A
CA
Stratakis
D000293:Adolescent; D047072:Aromatase Inhibitors / Q000627:therapeutic use; D056733:Carney Complex / Q000175:diagnosis* / Q000188:drug therapy / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D006177:Gynecomastia / Q000209:etiology; D006801:Humans; D008297:Male; D010580:Peutz-Jeghers Syndrome / Q000150:complications / Q000175:diagnosis* / Q000188:drug therapy / Q000473:pathology; D012707:Sertoli Cell Tumor / Q000150:complications / Q000175:diagnosis* / Q000188:drug therapy / Q000473:pathology; D013736:Testicular Neoplasms / Q000150:complications / Q000175:diagnosis* / Q000188:drug therapy / Q000473:pathology; D013737:Testis / Q000473:pathology*; D055815:Young Adult
D047072:Aromatase Inhibitors