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Genome-Wide Single Nucleotide Polymorphism Arrays as a Diagnostic Tool in Patients With Synchronous Endometrial and Ovarian Cancer
  1. Yuji Ikeda, MD*,
  2. Katsutoshi Oda, MD, PhD*,
  3. Shunsuke Nakagawa, MD, PhD*,
  4. Satsuki Murayama-Hosokawa, MD, PhD*,
  5. Shogo Yamamoto,
  6. Shumpei Ishikawa, MD, PhD,
  7. Linghua Wang, PhD,
  8. Yutaka Takazawa, MD, PhD,
  9. Daichi Maeda, MD, PhD,
  10. Osamu Wada-Hiraike, MD, PhD*,
  11. Kei Kawana, MD, PhD*,
  12. Masashi Fukayama, MD, PhD,
  13. Hiroyuki Aburatani, MD, PhD,
  14. Tetsu Yano, MD, PhD*,
  15. Shiro Kozuma, MD, PhD* and
  16. Yuji Taketani, MD, PhD*
  1. *Department of Obstetrics and Gynecology, Faculty of Medicine,
  2. Division of Genome Science, Research Center for Advanced Science and Technology, and
  3. Department of Pathology, Faculty of Medicine, The University of Tokyo, Tokyo, Japan.
  1. Address correspondence and reprint requests to Katsutoshi Oda, MD, PhD, Department of Obstetrics and Gynecology, Faculty of Medicine, The University of Tokyo, 7-3-1 Hongo Bunkyo-ku, Tokyo 113-8655, Japan. E-mail:


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.

  • Synchronous carcinomas
  • Endometrial cancer
  • Ovarian cancer
  • SNP arrays
  • Genetic diagnosis

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  • This study was supported by the following: the Grant-in-Aid for Scientific Research (C), grant numbers 19599005 and 23592437, and the Grant-in-Aid for Young Scientists (B), grant number 21791544, from the Ministry of Education, Culture, Sports, Science, and Technology of Japan (to K.O.). It is also supported by the following from the Ministry of Education, Science, Sports, and Culture of Japan: Scientific Research (S) 20221009 (to H.A.) and Scientific Research (C) 19591601 to Dr. Yasushi Midorikawa.

  • All the authors declare that there are no financial competing interests.

  • Supplemental digital content is available for this article. Direct URL citation appears in the printed text and is provided in the HTML and PDF versions of this article on the journal’s Web site (