Mucinous ovarian cancer metastasis to cervix: a rare case report (original) (raw)

Contents and immune checkpoint inhibitor, but predictive biomarkers are lacking. We performed genomic profiling and characterized specific genes associated with an increased tumor mutational burden (TMB) in Chinese patients with ovarian cancer (OC). OC accounts for high rates of relapse and mortality among people with solid tumors worldwide. As traditional treatments are limited and often intolerant for patients with advanced ovarian cancer, PARP inhibitors and immunotherapy may breakthrough therapies patients immunotherapy could be a better option. In order to explore the potential use of immunotherapy biomarkers, our study aimed to assess gene alteration and its correlations with microsatellite instability (MSI), TMB and tumor neoantigens burden (TNB) in Chinese CLC populations. Methods: A total of 201 female Chinese patients with OC (including primary peritoneal cancer and fallopian tube cancer) were involved from February 2020 to July 2021. All paired specimens were detected by OncoDrug-Seq™ 603-gene panel assay through next generation sequencing using Illumina NovaSeq 6000. Results: TP53 (62.7%) was the gene with highest mutation frequency, followed by BRCA1 (18.9%), KRAS (11.9%), ARID1A (9.5%), PIK3CA (9.0%), NF1 (6.0%), and BRCA2 (6.0%). Further analysis showed that TP53 alterations (84.6%, n=11/13) were significantly more common in high-grade serous carcinoma than other histological subtypes. Variations detected included fusions (1.4%), duplication (4.5%), and deletion (4.0%). Among them the fusions were RET-CCDC6, BRAF-KIAA1549, NRG1-DIP2B, ERBB2-MACROD2, especially, the latter 2 fusions occurred simultaneously in one patient. Mutational incidences of significant pathway were also analyzed. Five signal pathways, including JAK-STAT (1.4%), MAPK (74.6%), EGFR (28.9%), WNT (63.7%), and TGFB (1.0%) were related to mutational incidences. Correlation analysis between TMB and mutation status in OC (n=110) showed that the OC with RAD50 (n=4) or PALB2 (n=3) mutation patterns had higher TMB (mean values 20.3, 25.5, respectively, p<0.05), while the MSI status showed no significant difference (p>0.05). Conclusion: The landscape of mutation patterns and MSI, and TMB among Chinese OC populations in this study will further assist the utilization of these biomarkers to immunotherapy strategies.