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Test ID FOXL2 FOXL2, Granulosa Cell Tumor, c.402C->G Mutation Analysis

Useful For

Aiding in the diagnosis of adult granulosa cell tumor

Additional Tests

Test ID Reporting Name Available Separately Always Performed
SLIRV Slide Review in MG No, (Bill Only) Yes

Testing Algorithm

This test is performed in conjunction with SLIRV / Slide Review. Additional testing may be performed after review by pathologist. Upon approval from the requesting clinician, 70012 / Pathology Consultation may be added, if determined to be appropriate.

Method Name

Polymerase Chain Reaction (PCR) and Pyrosequencing

(PCR is utilized pursuant to a license agreement with Roche Molecular Systems, Inc.)

Reporting Name

FOXL2, c.402C>G Mutation Analysis

Specimen Type

Varies

A pathology/diagnostic report including a brief history is required.

 

Specimen Type:

Container/Tube: Surgical Pathology Packaging Kit (Supply T554) requested, but not required

Preferred: Formalin-fixed, paraffin-embedded (FFPE) tissue block with a minimum of 40% tumor cell population

Acceptable: Unstained slides with a minimum of 40% tumor population; slides may be stained and/or scraped

Collection Instructions:

1. Process all fresh or frozen specimens into FFPE blocks prior to submission.

2. If submitting slides, a minimum of five, 4- to 5-micron thick, unstained slides are required.

Additional Information:

1. A quality specimen is essential for evaluation. Submit only tissue containing tumor cells; minimal tissue is required for evaluation.

2. Special stains performed outside Mayo Medical Laboratories and included with the case may be repeated and charged at the reviewing pathologist's discretion. Testing requested by referring physician may not be performed if deemed unnecessary by Mayo Clinic pathologist.

Forms: If not ordering electronically, complete, print, and send 1 of the following forms with the specimen:

Pathology Test Request Form (T246) (http://www.mayomedicallaboratories.com/it-mmfiles/pathology-request-form.pdf)

Oncology Test Request Form (T729) (http://www.mayomedicallaboratories.com/it-mmfiles/oncology-request-form.pdf)

Specimen Stability Information

Specimen Type Temperature Time
Varies Ambient (preferred)
  Frozen 
  Refrigerated 

Clinical Information

Granulosa cell tumor (GCT) represents approximately 5% to 10% of all ovarian malignancies and is the most common type of malignant ovarian sex-cord stromal tumor. The majority of patients with GCT (95%) are adults and 5% are juveniles. The histopathological diagnosis of GCT is challenging. Forkhead box L2 (FOXL2) gene is involved in ovarian development and function. The FOXL2 gene point mutation 402C->G in exon 1 (C134W) was reported in the majority of adult GCT (>90%), 5% to 10% of thecomas (tumors closely related to GCT) and <10% of juvenile GCT cases, but not in other ovarian tumors. Detection of FOXL2 mutation aids in the clinical diagnosis of adult GCT.

Reference Values

An interpretative report will be provided.

Cautions

Reliable results are dependent on adequate specimen collection and processing. This test has been validated on formalin-fixed, paraffin-embedded tissues; other types of fixatives are discouraged. Improper treatment of tissues, such as decalcification, may cause PCR failure. False-negative results may occur in heterozygous tumor specimens when tumor cells comprise <40% of the cell population. Tumor cells are routinely enriched by macrodissection to avoid false-negative results.

                                                                                                                                                           

Clinical diagnosis or therapy should not be based solely on this assay. The results should be considered in conjunction with clinical information, histologic evaluation, and additional diagnostic tests.

Day(s) Performed

Monday through Friday; Varies

Report Available

8 days

Performing Laboratory

Mayo Medical Laboratories in Rochester

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.

CPT Code Information

81479-Unlisted molecular pathology procedure

88381-Microdissection, manual

NY State Approved

Yes