Molecular diagnostics of aberrations in the FGFR family genes

Mitiushkina, Natalia V.; Imyanitov, Evgeny N.

doi:10.37469/0507-3758-2023-69-3-364-372

VOPROSY ONKOLOGII

2023

DOI: 10.37469/0507-3758-2023-69-3-364-372

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Molecular diagnostics of aberrations in the FGFR family genes

Natalia V. Mitiushkina¹,

Evgeny N. Imyanitov²

Abstract: Соматические активирующие изменения генов FGFR1-4 выявляются в 5-10% всех опухолей человека. Применение новых селективных FGFR-ингибиторов позволяет улучшить результаты лечения местно-распространённого и метастатического уротелиального рака и холангиокарциномы с активирующими изменениями в генах FGFR2 и FGFR3. В рамках клинических испытаний изучаются возможности применения препаратов из этого класса и при других типах новообразований. Для отбора пациентов на лечение таргетными ингибиторами FGFR-рецепторов обыч… Show more

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2024

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The role of molecular diagnostics in the choice of therapy for biliary tract cancers

Mitiushkina,

Imyanitov

2024

Sib. onkol. ž.

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The aim of the study was to assess the frequency and clinical significance of various molecular genetic aberrations in biliary tract tumors and to determine the optimal methods of their testing. Material and Methods. We searched the literature sources containing information on predictive molecular markers relevant for the choice of therapy in biliary tract tumors in PubMed and eLibrary databases for the period from 2010 to 2023. data from 60 studies were included in this review. Results. Biliary tract tumors are characterized by poor prognosis and low sensitivity to major systemic therapies. Nevertheless, the emergence of new targeting drugs and prescription of therapy based on the results of molecular genetic analysis can increase the life expectancy and improve the quality of life of a significant proportion of patients. The most frequently detected clinically significant abnormalities in all biliary tract tumors include HER2 gene amplification/hyperexpression (5–20 % of cases), microsatellite instability (1–2 % of cases), BRAF V600E oncogene mutation (1–2 % of cases) and KRAS G12C oncogene mutation (about 1 % of cases). Specific targetable abnormalities unique to intrahepatic cholangiocarcinomas include aberrations in the gene encoding fibroblast growth factor receptor 2, FGFR2 (10–20 % of cases) and mutations in the gene encoding the enzyme isocitrate dehydrogenase 1, IDH1 (5–30 % of cases). Very rare clinically significant molecular markers for biliary tract tumors include translocations involving the receptor tyrosine kinase genes NTRK1-3, RET, ALK and ROS1. Mutations in the genes of the dNA double-strand break repair system by the mechanism of homologous recombination are also potentially significant for the choice of therapy. First of all, these are BRCA1/2 genes, hereditary mutations in which, according to two studies, are characteristic of 5–7 % of patients with biliary cancer. Although a significant part of the above-mentioned disorders can be detected by traditional molecular biological approaches such as PCR, IHC, FISH and Sanger sequencing, a comprehensive analysis of all molecular markers of predictive value in biliary tract tumors is difficult to perform without the help of next-generation sequencing (NGS). Conclusion. To improve treatment outcomes of patients with advanced and metastatic biliary tract cancer by individualizing drug therapy, it is necessary to perform comprehensive molecular genetic analysis of tumour tissue.

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The role of molecular diagnostics in the choice of therapy for biliary tract cancers

Mitiushkina,

Imyanitov

2024

Sib. onkol. ž.

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Molecular diagnostics of aberrations in the FGFR family genes

Cited by 1 publication

References 54 publications

The role of molecular diagnostics in the choice of therapy for biliary tract cancers

The role of molecular diagnostics in the choice of therapy for biliary tract cancers

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