Prevalence and significance of M541L single nucleotide polymorphism in the central European cohort of gastrointestinal s
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ORIGINAL ARTICLE – CLINICAL ONCOLOGY
Prevalence and significance of M541L single nucleotide polymorphism in the central European cohort of gastrointestinal stromal tumor patients Karin Jasek1 · Marian Grendar1 · Andrea Stanclova2 · Bibiana Malicherova1 · Ivana Kasubova1 · Tatiana Burjanivova3 · Peter Szepe2 · Rachele Ciccocioppo4 · Luis Rodrigo5 · Robert Prosecky6 · Peter Kruzliak7 · Lukas Plank1,2 · Zora Lasabova1,3 Received: 17 August 2020 / Accepted: 22 September 2020 © Springer-Verlag GmbH Germany, part of Springer Nature 2020
Abstract Background Single nucleotide polymorphisms can create a genetic microenvironment in some tumors that affects the course of treatment, resistance, etc. Whether single nucleotide polymorphisms have an impact on gastrointestinal stromal tumor (GIST) development and disease progression is not yet accurately verified. KIT SNPM541L in exon 10 correlates with a worse prognosis of many cancers. The impact of KIT SNPM541L in GISTs is relatively unknown and, therefore, its analyses could have potential in patient therapy and could provide more detailed information on tumor character, clinical presentation, or tumor behavior in treatment. Aim The aim of the study was the analysis of the biological and clinical significance of the KIT SNPM541L polymorphism in exon 10. Materials and methods Paraffin sample tissues were obtained from the National GIST Register in Martin. Retrospective samples from 177 GIST patients were divided into several groups. Detection of SNPM541L was performed by Sanger sequencing. Statisitical analyses were performed to determine the prevalence of KIT SNPM541L in the Slovak GIST cohort, to search for correlation between c-KIT status and clinicopathological, molecular and biological data. Results Overall, 29 samples out of 177 showed KIT SNPM541L polymorphism. Conclusion Our results do not support the association between KIT SNPM541L and increased risk of relapse in localized primary GISTs. Additionally, we found a positive correlation between KIT SNPM541L occurrence and earlier onset of relapse in PDGFRa and WT subgroup of GISTs. Keywords Gastrointestinal stromal tumors · Single nucleotide polymorphism · c.1621 A > C · M541L · c-KIT
* Peter Kruzliak [email protected]
4
Department of Medicine, A.O.U.I. Policlinico G.B. Rossi and University of Verona, Verona, Italy
* Zora Lasabova [email protected]
5
Faculty of Medicine, University of Oviedo, Central University Hospital of Asturias (HUCA), Oviedo, Spain
6
2nd Department of Internal Medicine, Faculty of Medicine, Masaryk University and St. Anne’S University Hospital, Brno, Czech Republic
7
Research and Development Services, Brno, Czech Republic
1
Biomedical Center Martin, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava, Martin, Slovakia
2
Department of Pathological Anatomy, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava, Martin, Slovakia
3
Department of Molecular Biology and Genomics, Jessenius Faculty of
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