Document Detail

FOXL2 molecular testing in ovarian neoplasms: diagnostic approach and procedural guidelines.
MedLine Citation:
PMID:  23348906     Owner:  NLM     Status:  Publisher    
A single, recurrent somatic point mutation (402CG) in FOXL2 has been described in almost all adult-type granulosa cell tumors but not other ovarian neoplasms. Histopathological features of adult-type granulosa cell tumors can be mimicked by a variety of other tumors, making diagnosis of adult-type granulosa cell tumor challenging. It has been suggested that molecular testing for FOXL2 mutation might be a useful tool in the diagnosis of adult-type granulosa cell tumors. The aim of this study was to demonstrate how testing for the FOXL2 mutation can be used in a gynecological pathology consultation service and to establish clear procedural guidelines for FOXL2 testing. Immunohistochemistry for FOXL2 was done using an anti-FOXL2 polyclonal antiserum. If immunohistochemistry was positive, FOXL2 mutation status was subsequently analyzed using a TaqMan assay. A dilution experiment was done to assess the sensitivity and minimum tumor cellularity requirements for our TaqMan assay. Twenty problematic cases were assessed, where the differential diagnosis after the initial investigations included adult-type granulosa cell tumors. Differential diagnoses included: thecoma, Sertoli-Leydig cell tumor, juvenile granulosa cell tumor, endometrial stromal sarcoma and others. In all cases, FOXL2 immunohistochemistry was positive and in six samples the FOXL2 mutation was detected, thus confirming a diagnosis of adult-type granulosa cell tumor. The TaqMan assay was able to reliably detect the FOXL2 mutation with input DNA in the range of 2.5-20 ng, and with a minimum of 25% tumor cell nuclei. The analysis of the FOXL2 mutational status in clinical samples is a useful diagnostic tool in situations where the differential diagnosis is between adult-type granulosa cell tumor and other ovarian tumors. The TaqMan assay requires a minimum of 2.5 ng DNA, with optimal assay performance for 5 to 10 ng DNA input. Laser capture or needle-macrodissection should be undertaken to enrich samples with tumor cell content below 25%.Modern Pathology advance online publication, 25 January 2013; doi:10.1038/modpathol.2012.226.
Stefan Kommoss; Michael S Anglesio; Robertson Mackenzie; Winnie Yang; Janine Senz; Julie Ho; Lynda Bell; Sylvia Lee; Julie Lorette; David G Huntsman; C Blake Gilks
Related Documents :
25360666 - Identification of novel tumor-associated cell surface sialoglycoproteins in human gliob...
24183226 - Onychomatricoma masquerading as candidal onychomycosis and paronychia.
23826216 - Genetic and epigenetic alterations in primary-progressive paired oligodendroglial tumors.
22975456 - Primary epithelioid angiosarcoma of the thyroid: an infrequent malignant thyroid tumor.
7856736 - Frequent expression of il-7 gene transcripts in tumor cells of classical hodgkin's dise...
2196116 - Interleukin 1-induced augmentation of experimental metastases from a human melanoma in ...
Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2013-1-25
Journal Detail:
Title:  Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc     Volume:  -     ISSN:  1530-0285     ISO Abbreviation:  Mod. Pathol.     Publication Date:  2013 Jan 
Date Detail:
Created Date:  2013-1-25     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8806605     Medline TA:  Mod Pathol     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, BC, Canada.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

Previous Document:  Immunohistochemical pitfalls and the importance of glypican 3 and arginase in the diagnosis of scirr...
Next Document:  Thoracic and lumbar spinal cord diffusion tensor imaging in dogs.