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Medical Oncology

, 36:62 | Cite as

Effectiveness of a genetic test panel designed for gynecological cancer: an exploratory study

  • Koichi Ida
  • Tsutomu MiyamotoEmail author
  • Shotaro Higuchi
  • Hodaka Takeuchi
  • Satoshi Yamada
  • Motoki Ono
  • Hiroshi Nishihara
  • Tanri Shiozawa
Short Communication

Abstract

To increase diagnostic efficiency and cost-effectiveness, we performed an exploratory genetic test using a newly designed panel containing 28 actionable and druggable genes, alterations in which are frequently reported in gynecological cancers (TANRE-G, Targeted variants ANalysis RElated to Gynecological cancers). Samples consisted of the formalin-fixed, paraffin-embedded tissue of endometrial (4 cases), cervical (3 cases), and ovarian (4 cases) carcinomas. The sequencing procedure was performed using Ion PGM in our institute with related sequencing kits, and data were analyzed using ClinVar. The present system achieved more than 2500 reads in all tumor samples, and enabled a copy number variation analysis. Results showed that actionable and druggable mutations were detected in 82% (9/11) and 64% (7/11) of cases, respectively, which was similar to other commercially available genetic tests. The amplification of MYC and KRAS was also detected. The analysis cost for each sample was JPY 94,000 (USD 850). These results demonstrate the potential of the TANRE-G panel as an effective tool for examining genetic alterations in gynecological cancers.

Keywords

Genetic test Endometrial carcinoma Cervical carcinoma Ovarian carcinoma Gene panel 

Notes

Acknowledgements

The authors are grateful to Fumi Tsunoda and Eiji Uchida (Research Assistants; Department of Obstetrics and Gynecology, Shinshu University School of Medicine) for their excellent technical assistance. This work was supported by Grants-in-Aid for Scientific Research (KAKENHI) from the Japan Society for the Promotion of Science (JSPS), Grant Numbers 17K16842.

Compliance with ethical standards

Conflict of interest

The authors declare that they have no conflict of interest.

Ethical approval

All procedures performed in studies involving human participants were in accordance with the Ethics Committee of Shinshu University (approval No.591) and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.

Informed consent

Blanket consents had been obtained from all individual participants included in this study for using their resected tissue samples to any studies with anonymization. It was accepted in the Ethics Committee that the additional consent was unnecessary from any participants because of analyzing only somatic alterations of the genes on the TANRE-G panel. All individual participants were ensured of their right to opt out prior to the start.

Supplementary material

12032_2019_1286_MOESM1_ESM.docx (543 kb)
Supplementary material 1—Hematoxylin and eosin (H&E) and immunohistochemistry (IHC) staining of cases with the MYC or KRAS amplification. a Case 6 of low-grade serous ovarian carcinoma showed the MYC amplification as a copy number (CN) = 3. b Case 7 of high-grade serous ovarian carcinoma showed the MYC amplification as a CN = 4. c Case 8 of high-grade serous ovarian carcinoma showed the normal CN = 2 in MYC as a control. d Case 9 of mucinous carcinoma, gastric type showed the KRAS amplification as a CN = 5. e Case 11 of mucinous carcinoma, gastric type showed the normal CN = 2 in KRAS as a control. Each group (a–e) of images showed H&E (left, × 40) and IHC (right, × 40) (DOCX 543 kb)
12032_2019_1286_MOESM2_ESM.xlsx (16 kb)
Supplementary material 2 (XLSX 15 kb)

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Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2019

Authors and Affiliations

  1. 1.Department of Obstetrics and GynecologyShinshu University School of MedicineMatsumotoJapan
  2. 2.Genomics Unit, Keio Cancer CenterKeio University School of MedicineShinjuku-KuJapan

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