The FOXL2 C134W mutation is characteristic of adult granulosa cell tumors of the ovary

摘要: Granulosa cell tumors of the ovary represent ∼5% malignant ovarian cancers. It has recently been reported that 95-97% adult granulosa carry a unique somatic mutation in FOXL2 gene. We undertook this study to verify presence Cys134Trp two geographically independent cohorts and examine expression pattern these tumors. A total 56 with histological diagnosis tumor from centers, Melbourne Helsinki, were examined for using direct sequence analysis. Two tumor-derived lines, COV434 KGN, three juvenile control tissues also examined. The gene was determined quantitative RT-PCR and/or immunohistochemistry. found 52 harbor mutation, which hemi/homozygous. Of four cases wild-type sequence, reappraisal suggests may have misclassified at primary diagnosis. KGN cells heterozygous whereas had genotype. levels similar across normal controls; one mutation-negative high mRNA levels, lacked FOXL2. Our data provide confirmation frequent C134W demonstrate is not associated altered expression. analysis be useful tool differentiate particularly between cell-rich diffuse mitotically active sex cord-stromal This appears characteristic