Genome-wide single nucleotide polymorphism arrays as a diagnostic tool in patients with synchronous endometrial and ovarian cancer.

TitleGenome-wide single nucleotide polymorphism arrays as a diagnostic tool in patients with synchronous endometrial and ovarian cancer.
Publication TypeJournal Article
Year of Publication2012
AuthorsIkeda, Y, Oda, K, Nakagawa, S, Murayama-Hosokawa, S, Yamamoto, S, Ishikawa, S, Wang, L, Takazawa, Y, Maeda, D, Wada-Hiraike, O, Kawana, K, Fukayama, M, Aburatani, H, Yano, T, Kozuma, S, Taketani, Y
JournalInt J Gynecol Cancer
Date Published2012 Jun
KeywordsAdult, beta Catenin, Biomarkers, Tumor, Class I Phosphatidylinositol 3-Kinases, DNA Copy Number Variations, Endometrial Neoplasms, Female, Genome, Human, Genotype, Humans, Immunoenzyme Techniques, Microsatellite Repeats, Middle Aged, Mutation, Neoplasm Grading, Neoplasm Staging, Neoplasms, Multiple Primary, Oligonucleotide Array Sequence Analysis, Ovarian Neoplasms, Phosphatidylinositol 3-Kinases, Polymorphism, Single Nucleotide, Prognosis, Proto-Oncogene Proteins, Proto-Oncogene Proteins p21(ras), PTEN Phosphohydrolase, ras Proteins

OBJECTIVE: Synchronous carcinomas in the endometrium and ovaries can be a single primary tumor with metastasis (SPM) or dual primary tumors (DP). Although the prognosis of DP without any metastases is significantly better than that of SPM, pathological diagnosis is difficult in tumors with similar histological features.MATERIALS AND METHODS: In 10 tumors from 5 patients with synchronous endometrial and ovarian carcinomas, 250K single nucleotide polymorphism arrays were performed. The patients were genetically diagnosed according to the pattern of copy number alterations (CNAs), in addition to microsatellite status and mutational analysis of PIK3CA, PTEN, K-Ras, and CTNNB1.RESULTS: Of the 5 patients, 3 exhibited identical CNA patterns, including type, loci, and degree of each alteration in the endometrial and ovarian carcinomas. The other 2 exhibited CNAs only in either endometrial or ovarian carcinoma. All 5 tumors had 1 or more genetic mutations in the genes examined. One patient exhibited mutations both in PIK3CA and PTEN at discordant sites between endometrial and ovarian carcinomas, whereas the other 4 exhibited concordant mutations. Overall, 4 of the 5 patients were genetically diagnosed with SPM, and the remaining 1 with DP. The pathological diagnosis was not in agreement with the genetic diagnosis in 4 of the 5 patients.CONCLUSIONS: Genome-wide genotyping diagnosis may represent a useful approach for distinguishing between SPM and DP in synchronous endometrial and ovarian carcinomas.

Alternate JournalInt J Gynecol Cancer
PubMed ID22635024

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