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Expression of TP53 and PIK3CA in patients with laryngeal squamous cell carcinoma and neck metastases
Introduction Tumor metastasizing is a key factor which compromises the prognosis of cancer patients and is responsible for 90 % of the lethal outcome. The development of new prognostic and diagnostic markers could improve survival rate and life quality of the patients. The goal of this study is to examine possible genes linked to higher metastatic potential of LSCC.
Matherials and Methods In the study were enrolled seven patients with pathohistologicaly confirmed LSCC with node metastasis. Samples from the primary site and lymph node from patients were collected during a surgery. DNA isolation and Sanger sequencing on the following genes: TP53 and PIK3CA–exons 9,20 was performed.
Conclusions We analysed one unpublished TP53 variant (c.177T>A;p.Pro59Thr) and one published variant (c.194G>C;p.Arg65Thr) with uncertain significance in nodal metastasis samples. Whereas, samples from the core of primary LSCC tumour showed only one pathogenic variant in TP53 gene: c.202G>T;pGlu68Ter. Intriguingly, the periphery side of the laryngeal tumours were most enriched of TP53 pathogenic variants: c.473G>T(p.Arg158Leu); c.514_517dup(p.Val173fs); c.536A>G(p.His179Arg) and c.949C>T(p.Gln317Ter). In one patient we found a pathogenic variant in PIK3CA in the core of laryngeal tumour and nodal metastasis: c.1660del(p.His544fs*6), which suggest this variant could be an initial metastatic mutation.
Conclusion Our data could suggest that LSCC is highly heterogeneous disease, and more pathogenic mutations are found in peripheral parts of LSCC. Validation in a large group should be performed, but still this data could be used in the future developing a molecular target therapy and clarifying some of the mechanisms determining the metastatic process.
Grant "Young researcher 2019" Contract D138,MU-Sofia
10 June 2020 (online)
© Georg Thieme Verlag KG
Stuttgart · New York