Abstract
The Idylla NRAS Mutation Test, performed on the Biocartis Idylla system, is an in vitro diagnostic tool for the qualitative assessment of 18 NRAS mutations in codons 12, 13, 59, 61, 117, and 146. Low-grade serous ovarian cancer (LGSC) represents less than 10% of all serous ovarian carcinomas. LGSCs are believed to arise from preexisting cystadenomas or serous borderline tumors (SBOTs) that eventually progress to an invasive carcinoma. The molecular analysis of cancer-causing mutations and the development of targeted biological therapies constitute a milestone in the diagnosis and therapy of ovarian malignancies. According to some authors, NRAS may be an important oncogene for the progression of SBOT to a frankly invasive disease. The primary aim of this study was to verify if a fully integrated, real-time PCR-based Idylla system can be used for the rapid determination of the NRAS mutation status in patients with serous borderline ovarian tumors and low-grade serous ovarian carcinomas. The study included tissue specimens from 12 patients with histopathologically verified ovarian masses, operated on at the Department of Obstetrics and Gynecology, Nicolaus Copernicus University, Collegium Medicum in Bydgoszcz (Poland), between January 2009 and June 2012. The mean age of the study patients was 52.5 years (range 27–80 years). NRAS mutation in codon 13 (G13D, p.Gly13Asp; nucleotide: c.38G>A) was found in one patient, a woman with low-grade serous ovarian carcinoma. To the best of our knowledge, our experiment was the first published study using the novel Idylla NRAS Mutation Test for the evaluation of ovarian tumors in a clinical setting. The Idylla platform is an interesting ancillary first-line rapid and fully automated instrument to detect NRAS mutations in SBOTs and LGSCs. However, the clinical usefulness of this method still needs to be verified in larger groups of cancer patients.
Highlights
Point mutations in cancer cells can be detected with many various methods
Low-grade serous ovarian cancer (LGSC) are believed to arise from preexisting cystadenomas or serous borderline tumors (SBOTs) that eventually progress to an invasive carcinoma
Mutations in the neuroblastoma RAS viral oncogene homolog (NRAS) constitutively activate intracellular signaling through a variety of pathways—most notably, the RAS–RAF–MAPK and PI3K–AKT pathways [22]
Summary
Point mutations in cancer cells can be detected with many various methods. The most popular method for the molecular characterization of genetic variants is direct sequencing, which can detect all potential variations, among them, base substitutions, insertions, and deletions. Direct sequencing has some limitations when applied to clinical samples First of all, it is not sensitive enough (10–30%) to detect specific point mutations [1]. Application of direct sequencing as a routine method for cytological diagnosis in a hospital setting requires investment in expensive equipment and implementation of complicated procedures. Another factor limiting the application of this method in everyday clinical practice is long analytical times. This stimulated the search for a simple, rapid, specific, and sensitive method to detect point mutations. Some new molecular assays for the detection of NRAS, KRAS, BRAF, and EGFR mutations have become available.
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