Introduction/Background Small cell neuroendocrine carcinoma of the cervix (SCNEC) is a lethal malignancy and little treatment progress has been made for decades. We sought to identify whether SCNEC harbor mutations and potential targets for therapeutic interventions.
Methodology Primary tumor tissue and blood samples were obtained from 51 patients with SCNEC treated at Fudan University Shanghai Cancer Center (FUSCC). The next generation sequencing was carried out to detect mutations of 520 cancer-related genes, including the entire exon regions of 312 genes and the hotspot mutation regions of 208 genes.
Results Of the 51 detected patients, 98% (50/51) harbor genetic alterations. The most prominent mutations were mutations in PIK3CA (12%), TP53(12%), followed by KRAS(10%), KTM2D(10%), ATM(8%), PRKDC(8%), PTEN(8%). SCNEC had a high incidence of copy number variants with a rate of 60.8%. IRS2 and MYC was the gene most frequently amplified (14% of the samples respectively), with frequent amplification in CDK8(10%), IL7R (10%), RICTOR(10%). 68.6% of the samples were demonstrated with variants of potential clinical significance (Tier II) and most of which could be therapeutically intervened.
Conclusion We identified several significantly genetic alterations in SCNEC, including previously reported PIK3CA, TP53, KRAS, MYC and newly found KTM2D, ATM, PRKDC, IRS2, CDK8, IL7R,RICTOR.The gene profile of SCENC provided here will serve as a reference to further advance the understanding and precision treatment of SCNEC.
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