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A Low-grade Ovarian Carcinoma Case With Coincident LOH of PTCH1 and BRCA1, and a Mutation in BRCA1

Maurac, Ivana M.D.; Sabol, Maja Ph.D.; Musani, Vesna Ph.D.; Car, Diana B.Sc.; Ozretic, Petar B.Sc.; Kalafatic, Drzislav M.D., Ph.D.; Oreskovic, Slavko M.D.; Babic, Damir M.D.; Levanat, Sonja Ph.D.

International Journal of Gynecological Pathology: May 2012 - Volume 31 - Issue 3 - p 264–271
doi: 10.1097/PGP.0b013e31823b6f0f
PATHOLOGY OF THE UPPER GENITAL TRACT: CASE REPORTS
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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. Because of positive family history, the patient was referred for 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 with healthy ovarian tissue. Primary cell culture was developed from the patient’s tissue and showed downregulation of gene expression in response to cyclopamine, a Hh-Gli pathway inhibitor. The Hh-Gli signaling pathway may play a role in malignant transformation and metastasis of ovarian cancer.

Department of Obstetrics and Gynecology, Zagreb University School of Medicine (I.M., D.K., S.O.)

Division of Molecular Medicine, Rudjer Boskovic Institute (M.S., V.M., D.C., P.O., S.L.)

Clinical Department of Pathology and Cytology, Zagreb University School of Medicine (D.B.), Zagreb, Croatia

Sources of support: Republic of Croatia, Ministry of Science, Education and Sports, Grant No. 098-0982464-2461. The authors declare no conflict of interest.

Address correspondence and reprint requests to Sonja Levanat, PhD, Rudjer Boskovic Institute, Bijenicka cesta 54, 10002 Zagreb, Croatia. E-mail: levanat@irb.hr.

©2012International Society of Gynecological Pathologists