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

Richard Oparka, Andrew Cassidy, Stephanie Reilly, Alasdair Stenhouse, W Glenn McCluggage, C Simon Herrington

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)838-42
Number of pages5
JournalHistopathology
Volume60
Issue number5
DOIs
Publication statusPublished - Apr 2012

Keywords

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

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