|
|
|
|
|
|
|
|
abstract:Journal of Clinical Pathology
Aims To evaluate the incidence of PI3KCA, KRAS and BRAF mutations in primary ovarian clear cell carcinoma (OCCC).
Methods 63
consecutive patients, with a proven diagnosis of OCCC, according to WHO
criteria, were included into the study. Pyrosequencing
analysis of all three genes hotspot
regions were performed on 2.5 µm sections of formalin-fixed
paraffin-embedded tissue from
primary OCCC.
Results PI3KCA mutations were found in 20/63 (32%) cases; KRAS mutations were found in 8/63 (13%); no BRAF V600 mutations were found. In particular, 12/20 mutations (60%) of PI3KCA were found in the exon 20, whereas the remaining eight cases presented mutations in exon 9 (8/20; 40%). KRAS pyrosequencing analysis revealed higher incidence of codon 12 mutations (7/8; 90%) than codon 13 mutations (1/8; 10%). In
five cases (5/66; 8%), synchronous mutations, affecting PI3KCA and KRAS genes, were found. No differences were found in the distribution of hotspot mutations, according to the stage.
Conclusions The high frequency of PI3KCA mutations, the low rate of mutations in KRAS
and the absence of mutations in BRAF, indicate a molecular signature of
OCCCs different from other ovarian carcinomas. Detection
of driver mutations, such as PI3KCA
and KRAS, may be the basis for a targeted therapy, although the clinical
and therapeutic
implications of these findings have
to be supported by further studies.
0 comments :
Post a Comment
Your comments?
Note: Only a member of this blog may post a comment.