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FOXL2 mutations in granulosa cell tumors occurring in males

Joema F Lima1, Long Jin, Ana Rose C de Araujo

  • 1Division of Anatomic Pathology, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA. felipelima.joema@mayo.edu

Archives of Pathology & Laboratory Medicine
|June 30, 2012
PubMed
Abstract

Insights

The FOXL2 C134W mutation is found in male granulosa cell tumors, aiding diagnosis. This genetic marker is present in 40% of adult-type male granulosa cell tumors, though less common than in females.

Area of Science:

  • Oncology
  • Genetics
  • Pathology

Background:

  • Granulosa cell tumors (GCTs) are rare in males, with limited reported cases.
  • A specific FOXL2 mutation (C134W) is common in female adult-type GCTs.

Purpose of the Study:

  • To investigate the presence and significance of FOXL2 mutations in male granulosa cell tumors.
  • To assess the utility of FOXL2 mutational analysis in diagnosing testicular GCTs.

Main Methods:

  • Analysis of 5 male adult-type GCT cases and 9 other testicular tumors.
  • Histopathological examination and inhibin immunostaining.
  • DNA extraction, PCR, and direct sequencing of the FOXL2 gene.

Main Results:

  • All 5 cases exhibited classic adult-type GCT histopathology and were inhibin-positive.
  • The FOXL2 C134W mutation was identified in 40% (2 of 5) of male adult-type GCTs.
  • Other evaluated testicular tumors did not harbor the FOXL2 mutation.

Conclusions:

  • The FOXL2 C134W mutation occurs in male adult-type GCTs, albeit at a lower frequency than in females.
  • FOXL2 mutation analysis is a valuable diagnostic tool for testicular granulosa cell tumors.

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