Absence of a FOXL2 mutation (402C→G) in the blood of adult-type granulosa cell tumor patients possessing the FOXL2 mutation.
Recently, a new mutation in FOXL2, c.402C→G leading to a p.C134W change, was reported to be found in 97% of adult-type ovarian granulosa cell tumors (GCTs) tested. In the current study, we compared the FOXL2 sequences of genomic DNA isolated from both GCT and blood. Although the GCTs of patients possessed the FOXL2 mutation, their FOXL2 nucleotide sequences of genomic DNA isolated from matching blood samples lacked the 402C→G mutation. Therefore, we confirmed that the nucleotide alteration of FOXL2 is due to a somatic mutation and demonstrated that sequencing of blood DNA for the detection of the FOXL2 mutation is not a useful method for the diagnosis of GCT.
Department of Obstetrics and Gynecology, CHA University, 222 Yatap-Dong, Seongnam, Korea.
Sunyoung
S
Lee
Tae Heon
TH
Kim
Miae
M
Won
Jeong-Jae
JJ
Ko
Jaesook
J
Rho
Kangseok
K
Lee
Jeehyeon
J
Bae
D000328:Adult; D001483:Base Sequence; D001773:Blood Cells / Q000378:metabolism* / Q000473:pathology; D016022:Case-Control Studies; D004252:DNA Mutational Analysis; D005260:Female; D000074842:Forkhead Box Protein L2; D051858:Forkhead Transcription Factors / Q000235:genetics*; D006106:Granulosa Cell Tumor / Q000097:blood / Q000235:genetics / Q000473:pathology; D006801:Humans; D017354:Point Mutation; D020641:Polymorphism, Single Nucleotide
C421604:FOXL2 protein, human; D000074842:Forkhead Box Protein L2; D051858:Forkhead Transcription Factors