A low grade ovarian carcinoma case with coincident LOH of PTCH1 and BRCA1, and a mutation in BRCA1 (CROSBI ID 174588)
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Podaci o odgovornosti
Maurac, Ivana ; Sabol, Maja ; Musani, Vesna ; Car, Diana ; Ozretić, Petar ; Kalafatić, Držislav ; Orešković, Slavko ; Babić, Damir ; Levanat, Sonja
engleski
A low grade ovarian carcinoma case with coincident LOH of PTCH1 and BRCA1, and a mutation in BRCA1
We report a case of a 53-year-old woman with grade 1 serous cystadenocarcinoma on her left ovary and metastatic serous adenocarcinoma on her right ovary. Serous carcinoma is the most common type of ovarian cancer, representing approximately half of all cases. Due to positive family history, patient was referred to BRCA1/2 screening. Germline BRCA1 mutation c.676delT (p.C226VfsX8) was found, and in tumor tissue the normal allele was lost. Tumor tissue also had loss of heterozygosity in the PTCH1 gene, one of the major members of the Hedgehog-Gli (Hh-Gli) pathway. Gene expression analysis showed upregulation of the Hh-Gli pathway in both ovaries, compared to healthy ovarian tissue. Primary cell culture was developed from the patient’s tissue and showed downregulation of gene expression in response to cyclopamine, Hh-Gli pathway inhibitor. The Hh-Gli signaling pathway may play a role in malignant transformation and metastasis of ovarian cancer.
BRCA mutation; loss of heterozygosity; Hedgehog-Gli signaling pathway; cyclopamine; primary cell culture
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Podaci o izdanju
31 (3)
2012.
264-271
objavljeno
0277-1691
10.1097/PGP.0b013e31823b6f0f
Povezanost rada
Temeljne medicinske znanosti, Kliničke medicinske znanosti