Clinical implications of next‐generation sequencing‐based panel tests for malignant ovarian tumors

Precision medicine based on cancer genomics is being applied in clinical practice. However, patients do not always derive benefits from genomic testing. Here, we performed targeted amplicon exome sequencing‐based panel tests, including 160 cancer‐related genes (PleSSision‐160), on 88 malignant ovari...

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Veröffentlicht in:Cancer medicine (Malden, MA) MA), 2020-10, Vol.9 (20), p.7407-7417
Hauptverfasser: Saotome, Keiko, Chiyoda, Tatsuyuki, Aimono, Eriko, Nakamura, Kohei, Tanishima, Shigeki, Nohara, Sachio, Okada, Chihiro, Hayashi, Hideyuki, Kuroda, Yuka, Nomura, Hiroyuki, Susumu, Nobuyuki, Iwata, Takashi, Yamagami, Wataru, Kataoka, Fumio, Nishihara, Hiroshi, Aoki, Daisuke
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Sprache:eng
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Zusammenfassung:Precision medicine based on cancer genomics is being applied in clinical practice. However, patients do not always derive benefits from genomic testing. Here, we performed targeted amplicon exome sequencing‐based panel tests, including 160 cancer‐related genes (PleSSision‐160), on 88 malignant ovarian tumors (high‐grade serous carcinoma, 27; endometrioid carcinoma, 15; clear cell carcinoma, 30; mucinous carcinoma, 6; undifferentiated carcinoma, 4; and others, 6 (immature teratoma, 1; carcinosarcoma, 3; squamous cell carcinoma, 1; and mixed, 1)), to assess treatment strategies and useful biomarkers for malignant ovarian tumors. Overall, actionable gene variants were found in 90.9%, and druggable gene variants were found in 40.9% of the cases. Actionable BRCA1 and BRCA2 variants were found in 4.5% of each of the cases. ERBB2 amplification was found in 33.3% of mucinous carcinoma cases. Druggable hypermutation/ultramutation (tumor mutation burden ≥ 10 SNVs/Mbp) was found in 7.4% of high‐grade serous carcinoma, 46.7% of endometrioid carcinoma, 10% of clear cell carcinoma, 0% of mucinous carcinoma, 25% of undifferentiated carcinoma, and 33.3% of the other cancer cases. Copy number alterations were significantly higher in high‐grade serous carcinoma (P 
ISSN:2045-7634
2045-7634
DOI:10.1002/cam4.3383