Abstract
Ovarian cancer is one of the most common cancers in women and is often diagnosed as advanced stage because of the subtle symptoms of early ovarian cancer. To identify the somatic alterations and new biomarkers for the diagnosis and targeted therapy of Chinese ovarian cancer patients, a total of 65 Chinese ovarian cancer patients were enrolled for detection of genomic alterations. The most commonly mutated genes in ovarian cancers were TP53 (86.15%, 56/65), NF1 (13.85%, 9/65), NOTCH3 (10.77%, 7/65), and TERT (10.77%, 7/65). Statistical analysis showed that TP53 and LRP1B mutations were associated with the age of patients, KRAS, TP53, and PTEN mutations were significantly associated with tumor differentiation, and MED12, LRP2, PIK3R2, CCNE1, and LRP1B mutations were significantly associated with high tumor mutational burden. The mutation frequencies of LRP2 and NTRK3 in metastatic ovarian cancers were higher than those in primary tumors, but the difference was not significant (P = 0.072, for both). Molecular characteristics of three patients responding to olapanib supported that BRCA mutation and HRD related mutations is the target of olaparib in platinum sensitive patients. In conclusion we identified the somatic alterations and suggested a group of potential biomarkers for Chinese ovarian cancer patients. Our study provided a basis for further exploration of diagnosis and molecular targeted therapy for Chinese ovarian cancer patients.
Highlights
Ovarian cancer is one of the most common cancers in women and is often diagnosed as advanced stage because of the subtle symptoms of early ovarian cancer
According to TNM staging system, which considered the tumor size (T), lymph node/lymph node diffusion (N), and tumor metastasis (M), 5 (7.69%) patients were in stage I, 8 (12.31%) patients were in stage II, 33 (50.77%) patients were in stage III, 9 (13.8%) patients were in stage IV, and 8 (12.31%) patients with unclear tumor stage
We found that only case 2 harbored the mutation of BRCA1 rearrangement, the amplifications of AURKA and RAD21 were detected in case 1, and AURKA Single nucleotide variants (SNVs) was detected in case 3
Summary
Ovarian cancer is one of the most common cancers in women and is often diagnosed as advanced stage because of the subtle symptoms of early ovarian cancer. In conclusion we identified the somatic alterations and suggested a group of potential biomarkers for Chinese ovarian cancer patients. Our study provided a basis for further exploration of diagnosis and molecular targeted therapy for Chinese ovarian cancer patients. Understanding the mechanism of tumorigenesis and developing potential biomarkers for diagnosis and targeted therapy would be of great clinical value for ovarian cancer. Balendran et al identified the most commonly altered genes in brain metastatic ovarian cancer to be BRCA1/2, TP53, and ATM10. Targeted NGS showed potential advantage for identifying subgroups of patients with distinct therapeutic vulnerabilities based on the mutational profile expressed by ovarian c ancers[15]. We enrolled 65 Chinese ovarian cancer patients in this study and performed NGS testing to identify characteristics of genomic alterations (GAs) and potential biomarkers for diagnosis and targeted therapy of ovarian cancers
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