Prevalence and significance of M541L single nucleotide
polymorphism in the central European cohort of gastrointestinal
stromal tumor patients

J 2021

Prevalence and significance of M541L single nucleotide polymorphism in the central European cohort of gastrointestinal stromal tumor patients

JASEK, Karin, Marian GRENDAR, Andrea STANCLOVA, Bibiana MALICHEROVA, Ivana KASUBOVA et. al.

Basic information

Original name

Prevalence and significance of M541L single nucleotide polymorphism in the central European cohort of gastrointestinal stromal tumor patients

Authors

JASEK, Karin, Marian GRENDAR (703 Slovakia), Andrea STANCLOVA (703 Slovakia), Bibiana MALICHEROVA (703 Slovakia), Ivana KASUBOVA (703 Slovakia), Tatiana BURJANIVOVA (703 Slovakia), Peter SZEPE (703 Slovakia), Rachele CICCOCIOPPO (380 Italy), Luis RODRIGO (724 Spain), Robert PROSECKÝ (203 Czech Republic, belonging to the institution), Peter KRUŽLIAK (703 Slovakia), Lukas PLANK (703 Slovakia) and Zora LASABOVA (703 Slovakia)

Edition

Journal of cancer research and clinical oncology, Germany, Springer-Verlag, 2021, 0171-5216

Other information

Language

English

Type of outcome

Článek v odborném periodiku

Field of Study

30204 Oncology

Country of publisher

United States of America

Confidentiality degree

není předmětem státního či obchodního tajemství

References:

URL

Impact factor

Impact factor: 4.322

RIV identification code

RIV/00216224:14110/21:00120776

Organization unit

Faculty of Medicine

DOI

http://dx.doi.org/10.1007/s00432-020-03410-8

UT WoS

000577037900001

Keywords in English

Gastrointestinal stromal tumors; Single nucleotide polymorphism; c; 1621 A > C; M541L; c-KIT

Abstract

V originále

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.KITSNP(M541L)in exon 10 correlates with a worse prognosis of many cancers. The impact ofKITSNP(M541L)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 theKITSNP(M541L)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 SNP(M541L)was performed by Sanger sequencing. Statisitical analyses were performed to determine the prevalence ofKITSNP(M541L)in the Slovak GIST cohort, to search for correlation betweenc-KITstatus and clinicopathological, molecular and biological data. Results Overall, 29 samples out of 177 showedKITSNP(M541L)polymorphism. Conclusion Our results do not support the association betweenKITSNP(M541L)and increased risk of relapse in localized primary GISTs. Additionally, we found a positive correlation betweenKITSNP(M541L)occurrence and earlier onset of relapse inPDGFRaand WT subgroup of GISTs.

Citovat

JASEK, Karin, Marian GRENDAR, Andrea STANCLOVA, Bibiana MALICHEROVA, Ivana KASUBOVA, Tatiana BURJANIVOVA, Peter SZEPE, Rachele CICCOCIOPPO, Luis RODRIGO, Robert PROSECKÝ, Peter KRUŽLIAK, Lukas PLANK and Zora LASABOVA. Prevalence and significance of M541L single nucleotide polymorphism in the central European cohort of gastrointestinal stromal tumor patients. Journal of cancer research and clinical oncology. Germany: Springer-Verlag, 2021, vol. 147, No 4, p. 1203-1215. ISSN 0171-5216. Available from: https://dx.doi.org/10.1007/s00432-020-03410-8.

@article{1687221,
   author = {Jasek, Karin and Grendar, Marian and Stanclova, Andrea and Malicherova, Bibiana and Kasubova, Ivana and Burjanivova, Tatiana and Szepe, Peter and Ciccocioppo, Rachele and Rodrigo, Luis and Prosecký, Robert and Kružliak, Peter and Plank, Lukas and Lasabova, Zora},
   article_location = {Germany},
   article_number = {4},
   doi = {http://dx.doi.org/10.1007/s00432-020-03410-8},
   keywords = {Gastrointestinal stromal tumors; Single nucleotide polymorphism; c; 1621 A > C; M541L; c-KIT},
   language = {eng},
   issn = {0171-5216},
   journal = {Journal of cancer research and clinical oncology},
   title = {Prevalence and significance of M541L single nucleotide polymorphism in the central European cohort of gastrointestinal stromal tumor patients},
   url = {https://link.springer.com/article/10.1007%2Fs00432-020-03410-8},
   volume = {147},
   year = {2021}
}

TY  - JOUR
ID  - 1687221
AU  - Jasek, Karin - Grendar, Marian - Stanclova, Andrea - Malicherova, Bibiana - Kasubova, Ivana - Burjanivova, Tatiana - Szepe, Peter - Ciccocioppo, Rachele - Rodrigo, Luis - Prosecký, Robert - Kružliak, Peter - Plank, Lukas - Lasabova, Zora
PY  - 2021
TI  - Prevalence and significance of M541L single nucleotide polymorphism in the central European cohort of gastrointestinal stromal tumor patients
JF  - Journal of cancer research and clinical oncology
VL  - 147
IS  - 4
SP  - 1203-1215
EP  - 1203-1215
PB  - Springer-Verlag
SN  - 01715216
KW  - Gastrointestinal stromal tumors
KW  - Single nucleotide polymorphism
KW  - c
KW  - 1621 A >
KW  - C
KW  - M541L
KW  - c-KIT
UR  - https://link.springer.com/article/10.1007%2Fs00432-020-03410-8
L2  - https://link.springer.com/article/10.1007%2Fs00432-020-03410-8
N2  - 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.KITSNP(M541L)in exon 10 correlates with a worse prognosis of many cancers. The impact ofKITSNP(M541L)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 theKITSNP(M541L)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 SNP(M541L)was performed by Sanger sequencing. Statisitical analyses were performed to determine the prevalence ofKITSNP(M541L)in the Slovak GIST cohort, to search for correlation betweenc-KITstatus and clinicopathological, molecular and biological data. Results Overall, 29 samples out of 177 showedKITSNP(M541L)polymorphism. Conclusion Our results do not support the association betweenKITSNP(M541L)and increased risk of relapse in localized primary GISTs. Additionally, we found a positive correlation betweenKITSNP(M541L)occurrence and earlier onset of relapse inPDGFRaand WT subgroup of GISTs.
ER  -

JASEK, Karin, Marian GRENDAR, Andrea STANCLOVA, Bibiana MALICHEROVA, Ivana KASUBOVA, Tatiana BURJANIVOVA, Peter SZEPE, Rachele CICCOCIOPPO, Luis RODRIGO, Robert PROSECKÝ, Peter KRUŽLIAK, Lukas PLANK and Zora LASABOVA. Prevalence and significance of M541L single nucleotide polymorphism in the central European cohort of gastrointestinal stromal tumor patients. \textit{Journal of cancer research and clinical oncology}. Germany: Springer-Verlag, 2021, vol.~147, No~4, p.~1203-1215. ISSN~0171-5216. Available from: https://dx.doi.org/10.1007/s00432-020-03410-8.

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