title: Genetic landscape of a case of extraovarian peritoneal serous papillary carcinoma.
abstract: The present report aimed to study genetic alterations underlying extraovarian peritoneal serous papillary carcinoma (EPSPC), which have not previously been systematically investigated. A case of EPSPC was identified, and its genetic alterations were assessed by combining comparative genomic hybridization and whole-exome sequencing technologies to investigate the genomic landscape, including copy number variations and mutations in EPSPC. It was found that a large number of germline mutations were present, which may have predisposed the patient to the occurrence of this disease. Copy number gains were found in a range of chromosomes, including 4q, 5q, 8q, 10q, 15q, 16p, 18q, 20p, 20q and Xq. Large-scale copy number loss occurred in chromosomes 2p, 13q, 16q, 17p and 17q. Through use of whole-exome sequencing, germline mutations were widely found that were associated with cancer development, including mutations in the BRCA1, DNA repair associated (BRCA1), BRCA2, tumor protein 53, erb-b2 receptor tyrosine kinase 2, matrix metalloproteinases and ADAM metallopeptidase domain-containing genes. In addition, 165 somatic mutations, including 52 missense mutations and 7 short insertions or deletions, were also identified. In summary, the EPSPC was undergoing profound genomic rearrangement and somatic mutation, which may have led to its initiation and development, and the present study discussed the genetic basis of this highly malignant cancer.
authors.affiliation: Department of Gynecology and Obstetrics, Yangpu Hospital, School of Medicine, Tongji University, Shanghai 200090, P.R. China; Gynecology Minimally Invasive Medical Institute, School of Medicine, Tongji University, Shanghai 200090, P.R. China.
authors.forename: Zhongping
authors.initials: Z
authors.lastname: Cheng
authors.affiliation: Department of Gynecology and Obstetrics, Yangpu Hospital, School of Medicine, Tongji University, Shanghai 200090, P.R. China; Gynecology Minimally Invasive Medical Institute, School of Medicine, Tongji University, Shanghai 200090, P.R. China.
authors.forename: Weihong
authors.initials: W
authors.lastname: Yang
authors.affiliation: Department of Gynecology and Obstetrics, Yangpu Hospital, School of Medicine, Tongji University, Shanghai 200090, P.R. China; Gynecology Minimally Invasive Medical Institute, School of Medicine, Tongji University, Shanghai 200090, P.R. China.
authors.forename: Jing
authors.initials: J
authors.lastname: Guo
authors.affiliation: Department of Gynecology and Obstetrics, Yangpu Hospital, School of Medicine, Tongji University, Shanghai 200090, P.R. China; Gynecology Minimally Invasive Medical Institute, School of Medicine, Tongji University, Shanghai 200090, P.R. China.
authors.forename: Ning
authors.initials: N
authors.lastname: Luo
authors.affiliation: Department of Gynecology and Obstetrics, Yangpu Hospital, School of Medicine, Tongji University, Shanghai 200090, P.R. China; Gynecology Minimally Invasive Medical Institute, School of Medicine, Tongji University, Shanghai 200090, P.R. China.
authors.forename: Li
authors.initials: L
authors.lastname: Chen
authors.affiliation: Department of Gynecology and Obstetrics, Yangpu Hospital, School of Medicine, Tongji University, Shanghai 200090, P.R. China; Gynecology Minimally Invasive Medical Institute, School of Medicine, Tongji University, Shanghai 200090, P.R. China.
authors.forename: Yan
authors.initials: Y
authors.lastname: Xie
authors.affiliation: Department of Gynecology and Obstetrics, Yangpu Hospital, School of Medicine, Tongji University, Shanghai 200090, P.R. China; Gynecology Minimally Invasive Medical Institute, School of Medicine, Tongji University, Shanghai 200090, P.R. China.
authors.forename: Xiaoyan
authors.initials: X
authors.lastname: Qu
authors.affiliation: Department of Gynecology and Obstetrics, Yangpu Hospital, School of Medicine, Tongji University, Shanghai 200090, P.R. China; Gynecology Minimally Invasive Medical Institute, School of Medicine, Tongji University, Shanghai 200090, P.R. China.
authors.forename: Liping
authors.initials: L
authors.lastname: Hu
authors.affiliation: Department of Gynecology and Obstetrics, Yangpu Hospital, School of Medicine, Tongji University, Shanghai 200090, P.R. China; Gynecology Minimally Invasive Medical Institute, School of Medicine, Tongji University, Shanghai 200090, P.R. China.
authors.forename: Hong
authors.initials: H
authors.lastname: Dai
authors.affiliation: Department of Pathology, Yangpu Hospital, School of Medicine, Tongji University, Shanghai 200090, P.R. China.
authors.forename: Xiaoming
authors.initials: X
authors.lastname: Zuo
keywords: comparative genomic hybridization; copy number variation; extraovarian peritoneal serous papillary carcinoma; mutation; whole-exome sequencing