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FOXL2 p.C134W mutational analysis for juvenile/adult granulosa-cell tumour of ovary

Test Code:

HT0203

Synonym(s):

Specimen Container

Specimen Requirement

10 unstained sections of tumour and a corresponding H&E-stained histological section, OR

1 paraffin block of tumour

Specimen Storage / Transport

Method

 

Orderable as STAT?

No

Turn Around Time

​5 working days

Reference Value(s)

Testing Laboratory Location

KKH

Laboratory

​Molecular Pathology

Contact Number

6394 1402

Day and Time Performed

​Mon – Fri: 0800 hrs – 1700 hrs

Orderable on CPOE?

No

Downtime Form

Additional Information

Background

Adult-type granulosa cell tumours of the ovary (aGCTs) are rare tumours that represent 2–5% of ovarian malignancies. The prognosis of this tumour is favourable, and it is characterized by slow progression. 10–30% of these tumours recur after 4–7 years of the primary surgery and the 5-year survival rate from the first recurrence is 55%, for the incompletely resected patients. Heterozygous point mutation of c.402C>G in the FOXL2 gene can be found in 97% of cases of aGCT.


Purpose of test

The test identifies the specific FOXL2 point mutation c.402C>G p.Cys134Trp (p.C134W) by Sanger sequencing.


Expected test result

FOXL2 c.402C>G mutation detected/not detected.


Caveats

DNA integrity and concentration must meet assay requirements. Low tumour content (<50%) may result in a false negative result.


Proficiency testing

Alternative performance assessment programme.


References

1.Schrader KA et al The specificity of the FOXL2 c.402C>G somatic mutation: a survey of solid tumors PLoS One. 2009 Nov 24;4(11):e7988

2.Kommoss S et al FOXL2 molecular testing in ovarian neoplasms: diagnostic approach and procedural guidelines. Mod Pathol. 2013 Jun;26(6):860-7

3.Shah SP et al Mutation of FOXL2 in granulosa-cell tumors of the ovary. N Engl J Med. 2009 Jun 25;360(26):2719-29

Change History Notes

Others

Keywords

FOXL2 p.C134W Mutational Analysis (Sanger Sequencing) HT0203
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