GENETIC POLYMORPHISM OF RETROPERITONEAL MYXOID LIPOSARCOMA
https://doi.org/10.21294/1814-4861-2020-19-3-89-96
Abstract
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.
About the Authors
A. Yu. Volkov
N.N. Blokhin National Medical Research Centre of Oncology of the Health Ministry of Russia
Russian Federation
Russian Federation
Postgraduate, Thoracic and Abdominal Department,
23, Kashirskoye Shosse, 115478, Moscow
V. M. Safronova
N.N. Blokhin National Medical Research Centre of Oncology of the Health Ministry of Russia
Russian Federation
Russian Federation
Junior Researcher of the Laboratory of Clinical Oncogenetics, Department of Morphological and Molecular Genetic Diagnosis of Tumors,
23, Kashirskoye Shosse, 115478, Moscow
S. N. Nered
N.N. Blokhin National Medical Research Centre of Oncology of the Health Ministry of Russia
Russian Federation
Russian Federation
MD, DSc, Leading Researcher, Thoracic and Abdominal Department,
23, Kashirskoye Shosse, 115478, Moscow
L. N. Lyubchenko
N.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)
Russian Federation
Russian Federation
Head of the Laboratory of Clinical Oncogenetics of the Department of Morphological and Molecular Genetic Diagnosis of Tumors, 23, Kashirskoye Shosse, 115478, Moscow;
MD, DSc, Associate Professor, Institute of Clinical Medicine, 8/2, Trubetskaya str., 119991
I. S. Stilidi
N.N. Blokhin National Medical Research Centre of Oncology of the Health Ministry of Russia
Russian Federation
Russian Federation
MD, DSc, Professor, Corresponding Member of the Russian Academy of Sciences, Director of N.N. Blokhin National Medical Research Centre of Oncology of the Health Ministry of Russia,
Head of Thoracic and Abdominal Department,
23, Kashirskoye Shosse, 115478, Moscow
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For citations:
Volkov A.Yu., Safronova V.M., Nered S.N., Lyubchenko L.N., Stilidi I.S. GENETIC POLYMORPHISM OF RETROPERITONEAL MYXOID LIPOSARCOMA. Siberian journal of oncology. 2020;19(3):89-96. (In Russ.) https://doi.org/10.21294/1814-4861-2020-19-3-89-96
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