Specimen Type: Formalin-fixed, paraffin-embedded tissue. Tissue block or unstained slides. If sending unstained slides, we require five (5) 10-micron tissue sections on uncharged glass slides. One adjacent H&E stained slide should be included. Cytology smears may also be used for testing if there is sufficient tumor present. Contact the laboratory at 415.502.3252 or [email protected] if testing on a cytology smear is desired.
Methodology: Sanger sequencing
Turnaround Time: 7-14 days
The p.C134W mutation in FOXL2 is present in 94-97% of adult granulosa cell tumors, 12.5% to 21% of thecomas and fewer than 10% of juvenile granulosa cell tumors. FOXL2 mutations are absent in other types of tumors that are common in the differential diagnosis for adult granulosa cell tumor, including fibroma, other sex-cord stromal tumors, carcinoid tumor, ovarian endometrioid adenocarcinoma and ovarian endometrial stromal sarcoma.
A histologic section of formalin-fixed, paraffin-embedded tissue is examined by a pathologist to identify an area of tissue with sufficient tumor for detection (>=50% tumor if possible). DNA is extracted from tumor areas on adjacent unstained slides and the 5’ portion of exon 1 (including codons 116-146) of the FOXL2 gene is captured and sequenced by next generation sequencing.
Results of this test should be correlated with the patient’s other clinical and laboratory information. This assay only detects mutations in codons 116 through 146 of the FOXL2 gene.
This test was validated by the UCSF Clinical Cancer Genomics Laboratory to confirm performance characteristics, in compliance with current guidelines for clinical implementation.
In general, the tumor should be a minimum of 0.4 cm in size. Blocks selected for FOXL2 Mutation Testing must contain tumor tissue. Areas of tumor must contain at least 50% tumor cells. The lab can remove adjacent non-tumor tissue, so the entire slide does not need 50% tumor cells, just the area with tumor. Contact the laboratory at 415.502.3252 or [email protected] if the specimen suitability is uncertain. Label slides with pathology case number and block identification.
Specimen rejection criteria include: All required slides not included. Insufficient tumor tissue present on slide as determined by pathologist. Outside slides not labeled or not accompanied by printed copy of test order.
UCSF Clinicians — this test can be ordered through APeX
Outside Physicians — this test can be ordered using the CCGL Requisition Form
For all specimens, an interpretation of this test by a laboratory physician will automatically be performed and billed for separately.