Frequent mutation and nuclear localization of β-catenin in sertoli cell tumors of the testis

Federica Perrone, Alessia Bertolotti, Gabriella Montemurro, Biagio Paolini, Marco A. Pierotti, Maurizio Colecchia

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The Sertoli cell tumor (SCT) of the testis is a sex cord stromal tumor, usually sporadic, rarely associated with genetic syndromes. Much remains unclear about the molecular genetic changes involved in SCT and its histogenesis. Recently, nuclear β-catenin immunostaining has been reported in a case of bilateral SCT, but the molecular basis of the aberrant nuclear β-catenin expression remains uncertain. In the present study, β-catenin immunohistochemical assay and mutational analysis of exon 3 of the CTNNB1 gene by direct sequencing were performed in 14 SCTs, 2 of which had an unfavorable clinical course. Immunohistochemical study showed that β-catenin was located in the cytoplasm of tumor cells in 4 cases (28.6%) and in both the nuclei and the cytoplasm in the remaining 10 cases (71.4%). β-Catenin mutations were detected in 10 of the 14 patients (71.4%) under evaluation. Ten of 10 mutation-carrying cases showed strong nuclear and diffuse cytoplasmic β-catenin immunoreactivity. Seven of the 8 CTNNB1-mutated tumors tested for cyclin D1 displayed diffuse immunoreactivity in the nuclei of tumor cells. We conclude that CTNNB1 exon 3 mutations are likely to be involved in the pathogenesis of male SCT with nuclear accumulation of β-catenin and affect the expression of cyclin D1.

Original languageEnglish
Pages (from-to)66-71
Number of pages6
JournalAmerican Journal of Surgical Pathology
Issue number1
Publication statusPublished - Jan 2014


  • b-catenin
  • CTNNB1 mutation
  • cyclin D1
  • Sertoli
  • testis tumor

ASJC Scopus subject areas

  • Anatomy
  • Pathology and Forensic Medicine
  • Surgery


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