Open Access

Mutation analysis and genomic imbalances of cells found in effusion fluids from patients with ovarian cancer

  • Authors:
    • Marta Brunetti
    • Ioannis Panagopoulos
    • Ilyá Kostolomov
    • Ben Davidson
    • Sverre Heim
    • Francesca Micci
  • View Affiliations

  • Published online on: June 26, 2020     https://doi.org/10.3892/ol.2020.11782
  • Pages: 2273-2279
  • Copyright: © Brunetti et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

Ovarian carcinomas and carcinosarcomas often cause malignant effusions, an accumulation within serous cavities of fluid containing cancer cells. Few studies have focused on the molecular alterations and genetic mechanisms behind effusion formation. The present study investigated the mutation status of TP53, PIK3CA, KRAS, HRAS, NRAS and BRAF in effusion fluids from 103 patients with ovarian cancer. In addition, array Comparative Genomic Hybridization (aCGH) analysis was performed on 20 effusions from patients with high‑grade serous carcinoma (10 cases positive for TP53 mutation and 10 with TP53 wild‑type). TP53 mutations, two of which were novel: c.826_830delCCTGT and c.475_476GC>TT, were identified in 44% of the cases. Mutations in KRAS, HRAS, and PIK3CA were identified in two, two and four cases, respectively. None of the effusions analysed showed NRAS or BRAF mutations. The aCGH analysis revealed highly imbalanced genomes similar to those described in primary ovarian carcinomas. No specific profile was indicated to distinguish tumors with TP53 mutations from those without. The molecular profiling of cells found in effusion fluids from patients with ovarian cancer thus showed considerable molecular heterogeneity. TP53 seems to be the most frequently mutated gene in these cells and may serve a leading role in the metastatic process.

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September-2020
Volume 20 Issue 3

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Online ISSN:1792-1082

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Spandidos Publications style
Brunetti M, Panagopoulos I, Kostolomov I, Davidson B, Heim S and Micci F: Mutation analysis and genomic imbalances of cells found in effusion fluids from patients with ovarian cancer. Oncol Lett 20: 2273-2279, 2020
APA
Brunetti, M., Panagopoulos, I., Kostolomov, I., Davidson, B., Heim, S., & Micci, F. (2020). Mutation analysis and genomic imbalances of cells found in effusion fluids from patients with ovarian cancer. Oncology Letters, 20, 2273-2279. https://doi.org/10.3892/ol.2020.11782
MLA
Brunetti, M., Panagopoulos, I., Kostolomov, I., Davidson, B., Heim, S., Micci, F."Mutation analysis and genomic imbalances of cells found in effusion fluids from patients with ovarian cancer". Oncology Letters 20.3 (2020): 2273-2279.
Chicago
Brunetti, M., Panagopoulos, I., Kostolomov, I., Davidson, B., Heim, S., Micci, F."Mutation analysis and genomic imbalances of cells found in effusion fluids from patients with ovarian cancer". Oncology Letters 20, no. 3 (2020): 2273-2279. https://doi.org/10.3892/ol.2020.11782