GENETIC POLYMORPHISM OF RETROPERITONEAL MYXOID LIPOSARCOMA
Objective: to detect new molecular genetic markers and therapeutic targets in retroperitoneal myxoid liposarcoma.Material and Methods. DNA samples isolated from tumor tissue and obtained from formalinfixed paraffin-embedded (FFPE) slides were used. DNA was extracted using the GeneRead DNA FFPE Kit (...
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| Format: | Article |
| Language: | Russian |
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Russian Academy of Sciences, Tomsk National Research Medical Center
2020-07-01
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| Series: | Сибирский онкологический журнал |
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| Online Access: | https://www.siboncoj.ru/jour/article/view/1491 |
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| author | A. Yu. Volkov V. M. Safronova S. N. Nered L. N. Lyubchenko I. S. Stilidi |
| author_facet | A. Yu. Volkov V. M. Safronova S. N. Nered L. N. Lyubchenko I. S. Stilidi |
| author_sort | A. Yu. Volkov |
| collection | DOAJ |
| description | Objective: to detect new molecular genetic markers and therapeutic targets in retroperitoneal myxoid liposarcoma.Material and Methods. DNA samples isolated from tumor tissue and obtained from formalinfixed paraffin-embedded (FFPE) slides were used. DNA was extracted using the GeneRead DNA FFPE Kit (50) (Qiagen). High-throughput next generation sequencing (NGS) using the GeneReader Actionable Insights Tumor Panel (GRTP – 101X) on the QCI Analyzer version 1.1 platform (Qiagen) was used for molecular genetic analysis of 12 genes involved in carcinogenesis: KRAS, NRAS, KIT, BRAF, PDGFRA, ALK, EGFR, ERBB2, PIK3CA, ERBB3, ESR1, RAF1.Results. Targeted sequencing of retroperitoneal extra-organ myxoid liposarcoma demonstrated genetic heterogeneity. Our study was the first to describe mutations and polymorphic variants in genes, such as EGFR, PIK3CA, ALK, BRAF, ERBB2 / 3, ESR1, KIT, PDGFRA in myxoid liposarcoma.Conclusion. This study demonstrated a wide range of molecular genetic rearrangements in retroperitoneal extra-organ myxoid liposarcoma. Synonymous mutations in the EGFR (Q787Q) and PDGFRA (P567P) genes were detected in all cases (100 %). Missense mutations in the ERBB2 gene (P1170A) and synonymous mutations in the ALK (G845G) and BRAF genes were identified in 75 % of cases. Missense mutation in the PIK3CA gene (I391M) was detected in 25 % of cases. The gene polymorphisms presented in this paper are most likely involved in the carcinogenesis of retroperitoneal myxoid liposarcoma. Further studies with larger patient groups and multivariate analysis of long-term treatment results are required. |
| format | Article |
| id | doaj-art-abeb9da4493a40418b0e2c0df1a43701 |
| institution | Kabale University |
| issn | 1814-4861 2312-3168 |
| language | Russian |
| publishDate | 2020-07-01 |
| publisher | Russian Academy of Sciences, Tomsk National Research Medical Center |
| record_format | Article |
| series | Сибирский онкологический журнал |
| spelling | doaj-art-abeb9da4493a40418b0e2c0df1a437012025-08-20T03:56:24ZrusRussian Academy of Sciences, Tomsk National Research Medical CenterСибирский онкологический журнал1814-48612312-31682020-07-01193899610.21294/1814-4861-2020-19-3-89-96750GENETIC POLYMORPHISM OF RETROPERITONEAL MYXOID LIPOSARCOMAA. Yu. Volkov0V. M. Safronova1S. N. Nered2L. N. Lyubchenko3I. S. Stilidi4N.N. Blokhin National Medical Research Centre of Oncology of the Health Ministry of RussiaN.N. Blokhin National Medical Research Centre of Oncology of the Health Ministry of RussiaN.N. Blokhin National Medical Research Centre of Oncology of the Health Ministry of RussiaN.N. Blokhin National Medical Research Centre of Oncology of the Health Ministry of Russia; I.M. Sechenov First Moscow State Medical University of the Ministry of Health of the Russian Federation (Sechenov University)N.N. Blokhin National Medical Research Centre of Oncology of the Health Ministry of RussiaObjective: to detect new molecular genetic markers and therapeutic targets in retroperitoneal myxoid liposarcoma.Material and Methods. DNA samples isolated from tumor tissue and obtained from formalinfixed paraffin-embedded (FFPE) slides were used. DNA was extracted using the GeneRead DNA FFPE Kit (50) (Qiagen). High-throughput next generation sequencing (NGS) using the GeneReader Actionable Insights Tumor Panel (GRTP – 101X) on the QCI Analyzer version 1.1 platform (Qiagen) was used for molecular genetic analysis of 12 genes involved in carcinogenesis: KRAS, NRAS, KIT, BRAF, PDGFRA, ALK, EGFR, ERBB2, PIK3CA, ERBB3, ESR1, RAF1.Results. Targeted sequencing of retroperitoneal extra-organ myxoid liposarcoma demonstrated genetic heterogeneity. Our study was the first to describe mutations and polymorphic variants in genes, such as EGFR, PIK3CA, ALK, BRAF, ERBB2 / 3, ESR1, KIT, PDGFRA in myxoid liposarcoma.Conclusion. This study demonstrated a wide range of molecular genetic rearrangements in retroperitoneal extra-organ myxoid liposarcoma. Synonymous mutations in the EGFR (Q787Q) and PDGFRA (P567P) genes were detected in all cases (100 %). Missense mutations in the ERBB2 gene (P1170A) and synonymous mutations in the ALK (G845G) and BRAF genes were identified in 75 % of cases. Missense mutation in the PIK3CA gene (I391M) was detected in 25 % of cases. The gene polymorphisms presented in this paper are most likely involved in the carcinogenesis of retroperitoneal myxoid liposarcoma. Further studies with larger patient groups and multivariate analysis of long-term treatment results are required.https://www.siboncoj.ru/jour/article/view/1491liposarcomamyxoid liposarcomaextra-organ retroperitoneal tumornext-generation sequencing (ngs)polymorphismmutationegfrpdgfraerbb2braf |
| spellingShingle | A. Yu. Volkov V. M. Safronova S. N. Nered L. N. Lyubchenko I. S. Stilidi GENETIC POLYMORPHISM OF RETROPERITONEAL MYXOID LIPOSARCOMA Сибирский онкологический журнал liposarcoma myxoid liposarcoma extra-organ retroperitoneal tumor next-generation sequencing (ngs) polymorphism mutation egfr pdgfra erbb2 braf |
| title | GENETIC POLYMORPHISM OF RETROPERITONEAL MYXOID LIPOSARCOMA |
| title_full | GENETIC POLYMORPHISM OF RETROPERITONEAL MYXOID LIPOSARCOMA |
| title_fullStr | GENETIC POLYMORPHISM OF RETROPERITONEAL MYXOID LIPOSARCOMA |
| title_full_unstemmed | GENETIC POLYMORPHISM OF RETROPERITONEAL MYXOID LIPOSARCOMA |
| title_short | GENETIC POLYMORPHISM OF RETROPERITONEAL MYXOID LIPOSARCOMA |
| title_sort | genetic polymorphism of retroperitoneal myxoid liposarcoma |
| topic | liposarcoma myxoid liposarcoma extra-organ retroperitoneal tumor next-generation sequencing (ngs) polymorphism mutation egfr pdgfra erbb2 braf |
| url | https://www.siboncoj.ru/jour/article/view/1491 |
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