The C134W (402 C>G) FOXL2 mutation is absent in ovarian gynandroblastoma: insights into the genesis of an unusual tumour

Histopathology. 2012 Apr;60(5):838-42. doi: 10.1111/j.1365-2559.2011.04148.x. Epub 2012 Feb 1.

Abstract

Aims: Ovarian gynandroblastomas are rare tumours that, by definition, comprise a combination of components resembling both female, typically granulosa cell tumour (GCT), and male, typically Sertoli or Sertoli/Leydig cell tumour (ST/SLT), sex cord/stromal differentiation. The histogenesis of these tumours is unknown and, in view of the very strong association between the C134W (402 C>G) FOXL2 mutation and adult-type GCT, we analysed a series of gynandroblastomas for this mutation.

Methods and results: Both components of each lesion were isolated by laser capture microdissection and the C134W (402 C>G) FOXL2 mutation was analysed by polymerase chain reaction sequencing. No mutation was identified in either the GCT or ST/SLT component of six cases, three of which contained adult-type GCT.

Conclusions: This suggests that, despite their similar morphological appearances, the GCT-like component of gynandroblastoma has a different molecular basis from conventional adult-type GCT. This finding underscores a more general principle that morphological similarity does not necessarily indicate molecular identity.

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • DNA Mutational Analysis
  • Female
  • Fibroma / genetics
  • Fibroma / pathology
  • Forkhead Box Protein L2
  • Forkhead Transcription Factors / genetics*
  • Genetic Association Studies
  • Genotype
  • Granulosa Cell Tumor / genetics*
  • Granulosa Cell Tumor / pathology
  • Humans
  • Laser Capture Microdissection
  • Middle Aged
  • Ovarian Neoplasms / genetics*
  • Ovarian Neoplasms / pathology
  • Point Mutation*
  • Young Adult

Substances

  • FOXL2 protein, human
  • Forkhead Box Protein L2
  • Forkhead Transcription Factors