title: ÐÑÑÐ»ÐµÐ´Ð¾Ð²Ð°Ð½Ð¸Ðµ ÐºÐ»Ð¸Ð½Ð¸ÑÐµÑÐºÐ¸ Ð·Ð½Ð°ÑÐ¸Ð¼ÑÑ Ð¿ÐµÑÐµÑÑÑÐ¾ÐµÐº Ð² MSI-Ð¿Ð¾Ð·Ð¸ÑÐ¸Ð²Ð½ÑÑ Ð¾Ð¿ÑÑ Ð¾Ð»ÑÑ
title: Ð²ÑÐ¿ÑÑÐºÐ½Ð°Ñ ÐºÐ²Ð°Ð»Ð¸ÑÐ¸ÐºÐ°ÑÐ¸Ð¾Ð½Ð½Ð°Ñ ÑÐ°Ð±Ð¾ÑÐ° Ð¼Ð°Ð³Ð¸ÑÑÑÐ°
titleType: Subtitle
title: The study of clinically significant rearrangements in MSI-positive tumors
Creators: name: Ð¡Ð°Ð¸ÑÐ¾Ð²Ð°, ÐÐ²Ð³ÐµÐ½Ð¸Ñ
Publisher: name: Ð¡Ð°Ð½ÐºÑ-ÐÐµÑÐµÑÐ±ÑÑÐ³ÑÐºÐ¸Ð¹ Ð¿Ð¾Ð»Ð¸ÑÐµÑÐ½Ð¸ÑÐµÑÐºÐ¸Ð¹ ÑÐ½Ð¸Ð²ÐµÑÑÐ¸ÑÐµÑ ÐÐµÑÑÐ° ÐÐµÐ»Ð¸ÐºÐ¾Ð³Ð¾
Year: 2023
Subjects: Ð¼Ð¸ÐºÑÐ¾ÑÐ°ÑÐµÐ»Ð»Ð¸ÑÐ½Ð°Ñ Ð½ÐµÑÑÐ°Ð±Ð¸Ð»ÑÐ½Ð¾ÑÑÑ
ÑÑÐ°Ð½ÑÐ»Ð¾ÐºÐ°ÑÐ¸Ð¸
ÑÐ°ÑÐ³ÐµÑÐ½Ð°Ñ ÑÐµÑÐ°Ð¿Ð¸Ñ
ÑÐµÑÐµÐ¿ÑÐ¾ÑÐ½ÑÐµ ÑÐ¸ÑÐ¾Ð·Ð¸Ð½ÐºÐ¸Ð½Ð°Ð·Ñ
ÑÐ°Ðº ÑÐ¾Ð»ÑÑÐ¾Ð¹ ÐºÐ¸ÑÐºÐ¸
ÑÐ°Ðº Ð¶ÐµÐ»ÑÐ´ÐºÐ°
ÑÐ°Ðº ÑÐ½Ð´Ð¾Ð¼ÐµÑÑÐ¸Ñ
microsatellite instability
translocations
targeted therapy
receptor tyrosine kinases
colorectal cancer
stomach cancer
endometrial cancer

description: ÐÐ°Ð½Ð½Ð°Ñ ÑÐ°Ð±Ð¾ÑÐ° Ð¿Ð¾ÑÐ²ÑÑÐµÐ½Ð° Ð¾ÑÐµÐ½ÐºÐµ ÑÐ¿ÐµÐºÑÑÐ° Ð¸ Ð²ÑÑÑÐµÑÐ°ÐµÐ¼Ð¾ÑÑÐ¸ Ð¼Ð¸ÑÐµÐ½ÐµÐ¹ Ð´Ð»Ñ ÑÐ°ÑÐ³ÐµÑÐ½Ð¾Ð¹ ÑÐµÑÐ°Ð¿Ð¸Ð¸: ÑÑÐ°Ð½ÑÐ»Ð¾ÐºÐ°ÑÐ¸Ð¹ Ñ ÑÑÐ°ÑÑÐ¸ÐµÐ¼ Ð³ÐµÐ½Ð¾Ð² NTRK1/2/3, ALK, RET, ROS1, Ð² MSI-Ð¿Ð¾Ð·Ð¸ÑÐ¸Ð²Ð½ÑÑ Ð¾Ð¿ÑÑÐ¾Ð»ÑÑ ÑÐ¾Ð»ÑÑÐ¾Ð¹ ÐºÐ¸ÑÐºÐ¸, Ð¶ÐµÐ»ÑÐ´ÐºÐ° Ð¸ ÑÐ½Ð´Ð¾Ð¼ÐµÑÑÐ¸Ñ. ÐÐ»Ñ Ð¿ÑÐ¾Ð²ÐµÐ´ÐµÐ½Ð¸Ñ Ð¸ÑÑÐ»ÐµÐ´Ð¾Ð²Ð°Ð½Ð¸Ñ Ð±ÑÐ»Ð° Ð²ÑÐ±ÑÐ°Ð½Ð° Ð¼ÐµÑÐ¾Ð´Ð¸ÐºÐ° Ð¾Ð±ÑÐ°ÑÐ½Ð¾-ÑÑÐ°Ð½ÑÐºÑÐ¸Ð¿ÑÐ¸Ð¾Ð½Ð½Ð¾Ð¹ Ð¿Ð¾Ð»Ð¸Ð¼ÐµÑÐ°Ð·Ð½Ð¾Ð¹ ÑÐµÐ¿Ð½Ð¾Ð¹ ÑÐµÐ°ÐºÑÐ¸Ð¸ (ÐÐ¢-ÐÐ¦Ð ), ÐºÐ¾ÑÐ¾ÑÐ°Ñ Ð¾ÑÐ»Ð¸ÑÐ°ÐµÑÑÑ Ð²ÑÑÐ¾ÐºÐ¾Ð¹ ÑÑÐ²ÑÑÐ²Ð¸ÑÐµÐ»ÑÐ½Ð¾ÑÑÑÑ Ð¸ Ð´Ð¾ÑÑÑÐ¿Ð½Ð¾ÑÑÑÑ Ð¸ÑÐ¿Ð¾Ð»ÑÐ·Ð¾Ð²Ð°Ð½Ð¸Ñ Ð¾Ð±ÑÐ°Ð·ÑÐ¾Ð² Ð½ÑÐºÐ»ÐµÐ¸Ð½Ð¾Ð²ÑÑ ÐºÐ¸ÑÐ»Ð¾Ñ Ð¸Ð· Ð¿Ð°ÑÐ°ÑÐ¸Ð½Ð¾Ð²ÑÑ Ð±Ð»Ð¾ÐºÐ¾Ð². ÐÐ¾Ð¼Ð±Ð¸Ð½Ð°ÑÐ¸Ñ Ð´Ð²ÑÑ ÑÐ°Ð·Ð»Ð¸ÑÐ½ÑÑ ÐÐ¦Ð -Ð¼ÐµÑÐ¾Ð´Ð¾Ð²: ÑÐµÑÑ Ð½Ð° Ð¾ÑÐµÐ½ÐºÑ Ð½ÐµÑÐ±Ð°Ð»Ð°Ð½ÑÐ¸ÑÐ¾Ð²Ð°Ð½Ð½Ð¾Ð¹ ÑÐºÑÐ¿ÑÐµÑÑÐ¸Ð¸ Ð³ÐµÐ½Ð¾Ð² NTRK1/2/3, ALK, RET, ROS1 Ð¸ Ð¸ÑÐ¿Ð¾Ð»ÑÐ·Ð¾Ð²Ð°Ð½Ð¸Ðµ Ð²Ð°ÑÐ¸Ð°Ð½Ñ-ÑÐ¿ÐµÑÐ¸ÑÐ¸ÑÐµÑÐºÐ¾Ð¹ ÐÐ¦Ð  Ð´Ð»Ñ Ð¾Ð¿ÑÐµÐ´ÐµÐ»ÐµÐ½Ð¸Ñ ÑÐ°ÑÐ¿ÑÐ¾ÑÑÑÐ°Ð½ÐµÐ½Ð½ÑÑ Ð²Ð°ÑÐ¸Ð°Ð½ÑÐ¾Ð² ÑÑÐ°Ð½ÑÐ»Ð¾ÐºÐ°ÑÐ¸Ð¹ â ÑÐ²Ð»ÑÐµÑÑÑ Ð½Ð°Ð´ÐµÐ¶Ð½ÑÐ¼ Ð¿Ð¾Ð´ÑÐ¾Ð´Ð¾Ð¼ Ð´Ð»Ñ Ð¾Ð±Ð½Ð°ÑÑÐ¶ÐµÐ½Ð¸Ñ ÐºÐ°Ðº Ð¸Ð·Ð²ÐµÑÑÐ½ÑÑ, ÑÐ°Ðº Ð¸ Ð½Ð¾Ð²ÑÑ ÑÑÐ°Ð½ÑÐ»Ð¾ÐºÐ°ÑÐ¸Ð¹. Ð ÑÐ¾Ð´Ðµ Ð¸ÑÑÐ»ÐµÐ´Ð¾Ð²Ð°Ð½Ð¸Ñ Ð±ÑÐ»Ð° Ð¿ÑÐ¾ÑÐµÑÑÐ¸ÑÐ¾Ð²Ð°Ð½Ð° Ð²ÑÐ±Ð¾ÑÐºÐ° Ð¸Ð· 431 MSI-Ð¿Ð¾Ð·Ð¸ÑÐ¸Ð²Ð½Ð¾Ð³Ð¾ Ð¾Ð±ÑÐ°Ð·ÑÐ°, Ð¸Ð· Ð½Ð¸Ñ ÑÑÐ°Ð½ÑÐ»Ð¾ÐºÐ°ÑÐ¸Ð¸ Ð±ÑÐ»Ð¸ Ð²ÑÑÐ²Ð»ÐµÐ½Ñ Ð² 26/431 (6%) ÑÐ»ÑÑÐ°ÑÑ. Ð Ð³ÑÑÐ¿Ð¿Ðµ ÐºÐ¾Ð»Ð¾ÑÐµÐºÑÐ°Ð»ÑÐ½ÑÑ Ð¾Ð¿ÑÑÐ¾Ð»ÐµÐ¹ Ð±ÑÐ»Ð¾ Ð¾Ð±Ð½Ð°ÑÑÐ¶ÐµÐ½Ð¾ 24 Ð¾Ð±ÑÐ°Ð·ÑÐ° Ñ Ð¿ÐµÑÐµÑÑÑÐ¾Ð¹ÐºÐ°Ð¼Ð¸, Ð´Ð»Ñ ÑÐ°ÐºÐ° Ð¶ÐµÐ»ÑÐ´ÐºÐ° â 1, ÑÐ½Ð´Ð¾Ð¼ÐµÑÑÐ¸Ñ â 1. Ð¡ÑÐµÐ´Ð¸ Ð¸Ð´ÐµÐ½ÑÐ¸ÑÐ¸ÑÐ¸ÑÐ¾Ð²Ð°Ð½Ð½ÑÑ ÑÐ¸Ð¼ÐµÑÐ½ÑÑ ÑÑÐ°Ð½ÑÐºÑÐ¸Ð¿ÑÐ¾Ð² Ð½Ð°Ð¸Ð±Ð¾Ð»ÑÑÐ°Ñ Ð´Ð¾Ð»Ñ Ð¿ÑÐ¸ÑÐ¾Ð´Ð¸Ð»Ð°ÑÑ Ð½Ð° ÑÑÐ°Ð½ÑÐ»Ð¾ÐºÐ°ÑÐ¸Ð¸ Ñ ÑÑÐ°ÑÑÐ¸ÐµÐ¼ Ð³ÐµÐ½Ð° NTRK1 â 11/26 ÑÐ»ÑÑÐ°ÐµÐ² (42,3 %). ÐÐ°Ð½Ð½Ð°Ñ ÑÐ°Ð±Ð¾ÑÐ° ÑÐ°ÑÐ°ÐºÑÐµÑÐ¸Ð·ÑÐµÑÑÑ Ð²ÑÑÐ¾ÐºÐ¸Ð¼ ÑÑÐ¾Ð²Ð½ÐµÐ¼ Ð°ÐºÑÑÐ°Ð»ÑÐ½Ð¾ÑÑÐ¸ Ð¸ ÐºÐ»Ð¸Ð½Ð¸ÑÐµÑÐºÐ¾Ð¹ Ð²Ð¾ÑÑÑÐµÐ±Ð¾Ð²Ð°Ð½Ð½Ð¾ÑÑÐ¸. ÐÐ·ÑÑÐµÐ½Ð¸Ðµ ÑÐ¿ÐµÐºÑÑÐ° ÐºÐ»Ð¸Ð½Ð¸ÑÐµÑÐºÐ¸-Ð·Ð½Ð°ÑÐ¸Ð¼ÑÑ ÑÑÐ°Ð½ÑÐ»Ð¾ÐºÐ°ÑÐ¸Ð¹ Ð² MSI-Ð¿Ð¾Ð·Ð¸ÑÐ¸Ð²Ð½ÑÑ Ð¾Ð¿ÑÑÐ¾Ð»ÑÑ Ð² Ð¿ÐµÑÑÐ¿ÐµÐºÑÐ¸Ð²Ðµ Ð¿Ð¾Ð·Ð²Ð¾Ð»Ð¸Ñ ÑÐ°ÑÑÐ¸ÑÐ¸ÑÑ Ð½Ðµ ÑÐ¾Ð»ÑÐºÐ¾ Ð´Ð¸Ð°Ð³Ð½Ð¾ÑÑÐ¸ÑÐµÑÐºÑÑ Ð¿Ð°Ð½ÐµÐ»Ñ Ð¾Ð¿ÑÑÐ¾Ð»ÐµÐ¹ ÑÐ¾Ð»ÑÑÐ¾Ð¹ ÐºÐ¸ÑÐºÐ¸, Ð¶ÐµÐ»ÑÐ´ÐºÐ° Ð¸ ÑÐ½Ð´Ð¾Ð¼ÐµÑÑÐ¸Ñ, Ð½Ð¾ Ð¸, ÑÐ¾Ð¾ÑÐ²ÐµÑÑÑÐ²ÐµÐ½Ð½Ð¾, ÑÐµÑÐ°Ð¿ÐµÐ²ÑÐ¸ÑÐµÑÐºÐ¸Ð¹ Ð¿Ð¾ÑÐµÐ½ÑÐ¸Ð°Ð» Ð¸Ñ Ð»ÐµÑÐµÐ½Ð¸Ñ Ð² ÑÐ¸Ð»Ñ Ð¸ÑÐ¿Ð¾Ð»ÑÐ·Ð¾Ð²Ð°Ð½Ð¸Ñ Ð² Ð¾Ð½ÐºÐ¾Ð»Ð¾Ð³Ð¸ÑÐµÑÐºÐ¾Ð¹ Ð¿ÑÐ°ÐºÑÐ¸ÐºÐµ ÑÐ°ÑÐ³ÐµÑÐ½ÑÑ Ð¿ÑÐµÐ¿Ð°ÑÐ°ÑÐ¾Ð² (Ð¸Ð½Ð³Ð¸Ð±Ð¸ÑÐ¾ÑÐ¾Ð² ÑÐ¸ÑÐ¾Ð·Ð¸Ð½ÐºÐ¸Ð½Ð°Ð·).
description: The given work is devoted to the evaluation of the spectrum and frequency of occurrence of targets for targeted therapy, translocations involving the genes NTRK1/2/3, ALK, RET, ROS1, in MSI-positive tumors of the colon, stomach and endometrium. The method of reverse transcriptional polymerase chain reaction (RT-PCR) was chosen for the study, which is characterized by high sensitivity and availability of using samples of nucleic acids from paraffin blocks. The combination of two different PCR methods: a test to assess the unbalanced expression of the NTRK1/2/3, ALK, RET, ROS1 genes and the use of variant-specific PCR to determine common translocation variants is a reliable approach for detecting both known and new translocations. During the study, 431 MSI-positive samples were tested, of which translocations were detected in 26 cases (26/431. 6%). In the group of colorectal tumors, 24 samples with rearrangements were found, for gastric cancer â 1, endometrial cancer â 1. Among the identified chimeric transcripts, the largest share fell on translocations involving the NTRK1 gene â 11/26 cases (42.3%). This work is characterized by a high level of relevance and clinical relevance. The study of the spectrum of clinically significant translocations in MSI-positive tumors in the future will expand not only the diagnostic panel of colon, stomach and endometrial tumors, but also, accordingly, the therapeutic potential of their treatment due to the use of targeted drugs (tyrosine kinase inhibitors) in oncological practice.