Intratumoral genomic heterogeneity may hinder precision medicine strategies in patients with serous ovarian carcinoma

Kohei Nakamura, Eriko Aimono, Shigeki Tanishima, Mitsuho Imai, Akiko Kawano Nagatsuma, Hideyuki Hayashi, Yuki Yoshimura, Kentaro Nakayama, Satoru Kyo, Hiroshi Nishihara

Research output: Contribution to journalArticlepeer-review

8 Citations (Scopus)


Precision medicine, which includes comprehensive genome sequencing, is a potential therapeutic option for treating high-grade serous carcinoma (HGSC). However, HGSC is a heterogeneous tumor at the architectural, cellular, and molecular levels. Intratumoral molecular heterogeneity currently limits the precision of medical strategies based on the gene mutation status. This study was carried out to analyze the presence of 160 cancer-related genetic alterations in three tissue regions with different pathological features in a patient with HGSC. The patient exhibited histological heterogeneous features with different degrees of large atypical cells and desmoplastic reactions. TP53 mutation, ERBB2 and KRAS amplification, and WT1, CDH1, and KDM6A loss were detected as actionable gene alterations. Interestingly, the ERBB2 and KRAS amplification status gradually changed according to the region examined. The difference was consistent with the differences in pathological features. Our results demonstrate the need for sampling of the appropriate tissue region showing progression of pathological features for molecular analysis to solve issues related to tumor heterogeneity prior to developing precision oncology strategies.

Original languageEnglish
Article number200
Issue number4
Publication statusPublished - 2020 Apr


  • DNA sequencing
  • Genomic heterogeneity
  • Ovarian carcinoma
  • Precision medicine

ASJC Scopus subject areas

  • Clinical Biochemistry


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