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Application of precision medicine based on next-generation sequencing and immunohistochemistry in ovarian cancer: a real-world experience

Yoo-na Kim ; Yun Soo Chung ; Ji Hyun Lee ; Eunhyang Park ; Seung-tae Lee ; Sunghoon Kim ; Jung-yun Lee

Journal of gynecologic oncology, 2023-11, Vol.34 (6), p.1-15 [Periódico revisado por pares]

대한부인종양학회

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  • Título:
    Application of precision medicine based on next-generation sequencing and immunohistochemistry in ovarian cancer: a real-world experience
  • Autor: Yoo-na Kim ; Yun Soo Chung ; Ji Hyun Lee ; Eunhyang Park ; Seung-tae Lee ; Sunghoon Kim ; Jung-yun Lee
  • Assuntos: Biomarkers ; High-Throughput Nucleotide Sequencing ; Molecular Targeted Therapy ; Ovarian Neoplasms ; Precision Medicine
  • É parte de: Journal of gynecologic oncology, 2023-11, Vol.34 (6), p.1-15
  • Notas: Korean Society of Gynecologic Oncology
  • Descrição: Objective: To evaluate the landscape of gene alterations and immunohistochemistry (IHC) profiles of patients with ovarian cancer for targeted therapy and investigate the real-world experience of applying precision medicine. Methods: Patients diagnosed with ovarian cancer between January 2015 and May 2021 at Severance Hospital and who underwent tumor next-generation sequencing (NGS) were reviewed. Data on germline mutation, IHC markers for mismatch repair deficiency (MMRd), programmed death ligand 1 (PD-L1) expression, and human epidermal growth factor receptor 2 (HER2) expression were acquired. The use of matched therapy and its clinical outcomes were evaluated. Results: Of the 512 patients who underwent tumor NGS, 403 underwent panel-based germline testing. In patients who underwent both tests, tumor NGS identified 39 patients (9.7%) with BRCA mutations and 16 patients (4.0%) with other homologous recombination repair (HRR)-associated gene mutations, which were not found in germline testing. The most common single nucleotide variants were TP53 (82.2%), ARID1A (10.4%), PIK3CA (9.7%), and KRAS (8.4%). Copy number aberrations were found in 122 patients. MMRd was found in 3.2% of patients, high PD-L1 expression in 10.1%, and HER2 overexpression in 6.5%. Subsequently, 75 patients (14.6%) received a poly (ADP-ribose) polymerase inhibitor based on BRCA mutation and 11 patients (2.1%) based on other HRR-associated gene mutations. Six patients (1.2%) with MMRd underwent immunotherapy. Twenty-eight patients (5.5%) received other matched therapies targeting HER2, fibroblast growth factor receptor, folate receptor alpha, RAS, and PIK3CA. Conclusion: A comprehensive review of germline mutation, IHC, and tumor NGS helped identify candidates for precision therapy in patients with ovarian cancer, a proportion of whom received matched therapy.
  • Editor: 대한부인종양학회
  • Idioma: Coreano
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  • Realização: ABCD-USP USP   Logos de Redes Sociais: Freepik

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