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<b>Objective</b> <p>Ovarian cancer (OC) is a leading cause of cancer-related mortality in women, with late-stage diagnosis and high-grade histology contributing to poor survival. In Georgia, OC incidence is rising, but molecular characterization of this population is limited. Understanding gene alterations is crucial to guide targeted therapies and improve outcomes.</p> <b>Methods</b> <p>Seventeen patients with advanced-stage OC (FIGO IIIC–IV) treated between January and December 2024 were included. Tumor specimens were collected after primary or interval debulking surgery and analyzed using next-generation sequencing (NGS) with the Oncomine™ Comprehensive Assay v3, assessing 161 cancer-associated genes for single nucleotide variants, copy number variants, gene fusions, and indels. Standard-of-care chemotherapy with paclitaxel and carboplatin was administered per the NCCN and ESMO guidelines.</p> <b>Results</b> <p>The cohort had a mean age of 51 years; 94.1% were diagnosed with high-grade serous carcinoma. BRCA1 and BRCA2 pathogenic variants were identified in four and three patients, respectively. TP53 mutations occurred in 10 patients, with some coexisting with BRCA2 or PIK3CA mutations. Additional alterations included KRAS mutations (<i>n</i> = 2), androgen receptor amplification, PDGFRA amplification, and one ALK fusion. Two patients with disease progression after multiple chemotherapy lines received NGS-guided targeted therapy, including PI3K inhibitors, achieving disease control at nine months follow-up.</p> <b>Conclusion</b> <p>NGS profiling revealed heterogeneous genetic alterations in Georgian women with advanced OC, highlighting potential opportunities for personalized therapy beyond BRCA mutations. These findings support integrating molecular testing into clinical management and provide a foundation for genotype-driven targeted treatments, including PARP, PI3K, KRAS, and ALK inhibitors. Despite sample size limitations, this study underscores the value of precision oncology in improving patient outcomes in Georgia.</p>

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Genetic Alterations in Ovarian Cancer in the Republic of Georgia: A Single-Institution Report

  • 期刊论文

  • 发表日期：

    2026年2月13日

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  • Nino Vardiashvili,
  • Mikheil Jangavadze,
  • Nina Inauri,
  • Sarfraz Ahmad

摘要

Objective

Ovarian cancer (OC) is a leading cause of cancer-related mortality in women, with late-stage diagnosis and high-grade histology contributing to poor survival. In Georgia, OC incidence is rising, but molecular characterization of this population is limited. Understanding gene alterations is crucial to guide targeted therapies and improve outcomes.

Methods

Seventeen patients with advanced-stage OC (FIGO IIIC–IV) treated between January and December 2024 were included. Tumor specimens were collected after primary or interval debulking surgery and analyzed using next-generation sequencing (NGS) with the Oncomine™ Comprehensive Assay v3, assessing 161 cancer-associated genes for single nucleotide variants, copy number variants, gene fusions, and indels. Standard-of-care chemotherapy with paclitaxel and carboplatin was administered per the NCCN and ESMO guidelines.

Results

The cohort had a mean age of 51 years; 94.1% were diagnosed with high-grade serous carcinoma. BRCA1 and BRCA2 pathogenic variants were identified in four and three patients, respectively. TP53 mutations occurred in 10 patients, with some coexisting with BRCA2 or PIK3CA mutations. Additional alterations included KRAS mutations (n = 2), androgen receptor amplification, PDGFRA amplification, and one ALK fusion. Two patients with disease progression after multiple chemotherapy lines received NGS-guided targeted therapy, including PI3K inhibitors, achieving disease control at nine months follow-up.

Conclusion

NGS profiling revealed heterogeneous genetic alterations in Georgian women with advanced OC, highlighting potential opportunities for personalized therapy beyond BRCA mutations. These findings support integrating molecular testing into clinical management and provide a foundation for genotype-driven targeted treatments, including PARP, PI3K, KRAS, and ALK inhibitors. Despite sample size limitations, this study underscores the value of precision oncology in improving patient outcomes in Georgia.