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New Challenges in Tumor Mutation Heterogeneity in Advanced Ovarian Cancer by a Targeted Next-Generation Sequencing

Marica Garziera1, Rossana Roncato2, Marcella Montico3

  • 1Experimental and Clinical Pharmacology Unit, Centro di Riferimento Oncologico (CRO), IRCCS, 33081 Aviano, Italy. mgarziera@cro.it.

Cells
|June 15, 2019
PubMed

Insights

Next-generation sequencing identified a poor prognostic signature in ovarian cancer patients with concurrent mutations in two driver genes. This finding highlights the potential of targeted sequencing to predict platinum resistance and guide treatment strategies.

Area of Science:

  • Oncology
  • Genomics
  • Molecular Biology

Background:

  • Next-generation sequencing (NGS) has improved understanding of ovarian cancer genomics and molecular classification.
  • Predicting patient survival and response to platinum-based chemotherapy remains challenging based on current genetic profiles.

Purpose of the Study:

  • To identify tumor genetic markers that predict platinum chemo-resistance and prognosis in advanced ovarian cancer.
  • To characterize the somatic mutation repertoire in ovarian tumors using targeted NGS.

Main Methods:

  • Retrospective analysis of 79 advanced ovarian cancer tumors (including 64 high-grade serous ovarian cancers) using a 26 cancer-gene panel via targeted NGS.
  • Patients underwent primary debulking surgery and first-line platinum-based chemotherapy between 1995 and 2011.

Main Results:

  • A heterogeneous mutational landscape was observed in both uncommon ovarian histotypes and high-grade serous ovarian cancer (HGSOC) samples.
  • A poor prognostic signature was identified in HGSOC patients with concurrent mutations in two specific driver actionable genes.
  • Tumor heterogeneity influences platinum sensitivity and overall prognosis.

Conclusions:

  • Targeted NGS can identify patient subgroups with distinct therapeutic vulnerabilities based on their specific mutational profile.
  • The identified genetic signature holds translational potential for predicting treatment response and prognosis in ovarian cancer.
  • Further research into tumor heterogeneity is crucial for personalized ovarian cancer therapy.
Keywords:
HGSOCNGSTP53advanced ovarian cancerconcurrent somatic mutationsdriver actionable genesplatinum sensitivitytranslational medicinetumor profile

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