Genetic changes of MLH1 and MSH2 genes could explain constant findings on microsatellite instability in intracranial meningioma
| العنوان: | Genetic changes of MLH1 and MSH2 genes could explain constant findings on microsatellite instability in intracranial meningioma |
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| المؤلفون: | Anja Kafka, Tomislav Vladušić, Nives Pećina-Šlaus, Davor Tomas, Reno Hrašćan, Anja Bukovac |
| المصدر: | Tumor Biology, Vol 39 (2017) |
| بيانات النشر: | IOS Press, 2017. |
| سنة النشر: | 2017 |
| مصطلحات موضوعية: | Adult, Male, 0301 basic medicine, Dishevelled Proteins, Loss of Heterozygosity, Locus (genetics), Biology, MLH1, DNA Mismatch Repair, Loss of heterozygosity, Meningioma, 03 medical and health sciences, 0302 clinical medicine, Axin Protein, Antigens, CD, medicine, Humans, neoplasms, RC254-282, Germ-Line Mutation, Aged, Genetics, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, Microsatellite instability, General Medicine, Middle Aged, Cadherins, medicine.disease, digestive system diseases, 3. Good health, MutS Homolog 2 Protein, 030104 developmental biology, MSH2, 030220 oncology & carcinogenesis, Microsatellite, Female, Microsatellite Instability, DNA mismatch repair, MutL Protein Homolog 1 |
| الوصف: | Postreplicative mismatch repair safeguards the stability of our genome. The defects in its functioning will give rise to microsatellite instability. In this study, 50 meningiomas were investigated for microsatellite instability. Two major mismatch repair genes, MLH1 and MSH2, were analyzed using microsatellite markers D1S1611 and BAT26 amplified by polymerase chain reaction and visualized by gel electrophoresis on high-resolution gels. Furthermore, genes DVL3 (D3S1262), AXIN1 (D16S3399), and CDH1 (D16S752) were also investigated for microsatellite instability. Our study revealed constant presence of microsatellite instability in meningioma patients when compared to their autologous blood DNA. Altogether 38% of meningiomas showed microsatellite instability at one microsatellite locus, 16% on two, and 13.3% on three loci. The percent of detected microsatellite instability for MSH2 gene was 14%, and for MLH1, it was 26%, for DVL3 22.9%, for AXIN1 17.8%, and for CDH1 8.3%. Since markers also allowed for the detection of loss of heterozygosity, gross deletions of MLH1 gene were found in 24% of meningiomas. Genetic changes between MLH1 and MSH2 were significantly positively correlated (p = 0.032). We also noted a positive correlation between genetic changes of MSH2 and DVL3 genes (p = 0.034). No significant associations were observed when MLH1 or MSH2 was tested against specific histopathological meningioma subtype or World Health Organization grade. However, genetic changes in DVL3 were strongly associated with anaplastic histology of meningioma (χ2 = 9.14; p = 0.01). Our study contributes to better understanding of the genetic profile of human intracranial meningiomas and suggests that meningiomas harbor defective cellular DNA mismatch repair mechanisms. |
| وصف الملف: | application/pdf |
| تدمد: | 1423-0380 1010-4283 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7efc52acc8b15b6eac3fa6870daaa48Test https://doi.org/10.1177/1010428317705791Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....d7efc52acc8b15b6eac3fa6870daaa48 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 14230380 10104283 |
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