Naslov
A low grade ovarian carcinoma case with coincident LOH of PTCH1 and BRCA1, and a mutation in BRCA1

Autori
Maurac, Ivana ; Sabol, Maja ; Musani, Vesna ; Car, Diana ; Ozretić, Petar ; Kalafatić, Držislav ; Orešković, Slavko ; Babić, Damir ; Levanat, Sonja

Izvornik
International journal of gynecological pathology (0277-1691) 31 (2012), 3; 264-271

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
BRCA mutation; loss of heterozygosity; Hedgehog-Gli signaling pathway; cyclopamine; primary cell culture

Sažetak
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.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti, Kliničke medicinske znanosti

POVEZANOST RADA