title: ÐÐ¸Ð°Ð³Ð½Ð¾ÑÑÐ¸ÐºÐ° ÐºÑÐ¸Ð¿ÑÐ¸ÑÐµÑÐºÐ¸Ñ Ð¼Ð¾Ð»ÐµÐºÑÐ»ÑÑÐ½Ð¾-Ð³ÐµÐ½ÐµÑÐ¸ÑÐµÑÐºÐ¸Ñ Ð²Ð°ÑÐ¸Ð°Ð½ÑÐ¾Ð² Ñ ÑÐ¾Ð½Ð¸ÑÐµÑÐºÐ¾Ð³Ð¾ Ð¼Ð¸ÐµÐ»Ð¾ÑÐ¸ÑÐ°ÑÐ½Ð¾Ð³Ð¾ Ð»ÐµÐ¹ÐºÐ¾Ð·Ð°
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: Diagnosis of cryptic molecular genetic variants of chronic myeloid leukaemia
Creators: name: ÐÑÑÐ³ÑÐ½Ð¾Ð²Ð°, ÐÐ°ÑÐ¸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: ÐÐ¸Ð¾ÑÐµÑ Ð½Ð¾Ð»Ð¾Ð³Ð¸Ñ
Ñ ÑÐ¾Ð½Ð¸ÑÐµÑÐºÐ¸Ð¹ Ð¼Ð¸ÐµÐ»Ð¾ÑÐ¸ÑÐ°ÑÐ½ÑÐ¹ Ð»ÐµÐ¹ÐºÐ¾Ð·
ÑÐ¸Ð»Ð°Ð´ÐµÐ»ÑÑÐ¸Ð¹ÑÐºÐ°Ñ Ñ ÑÐ¾Ð¼Ð¾ÑÐ¾Ð¼Ð°
Ð´Ð¾Ð¿Ð¾Ð»Ð½Ð¸ÑÐµÐ»ÑÐ½ÑÐµ Ñ ÑÐ¾Ð¼Ð¾ÑÐ¾Ð¼Ð½ÑÐµ Ð°Ð±Ð±ÐµÑÐ°ÑÐ¸Ð¸
ÐºÑÐ¸Ð¿ÑÐ¸ÑÐµÑÐºÐ¸Ðµ Ð¼ÑÑÐ°ÑÐ¸Ð¸
chronic myelocytic leukaemia
philadelphia chromosome
additional chromosomal aberrations
cryptic mutations

description: ÐÐ°Ð½Ð½Ð°Ñ ÑÐ°Ð±Ð¾ÑÐ° Ð¿Ð¾ÑÐ²ÑÑÐµÐ½Ð° Ð¾Ð¿ÑÐµÐ´ÐµÐ»ÐµÐ½Ð¸Ðµ ÑÐ¾Ð»Ð¸ Ð¼ÑÑÐ°ÑÐ¸Ð¹ Ð³ÐµÐ½Ð° bcr::abl, Ð° ÑÐ°Ðº Ð¶Ðµ Ð¸Ñ ÐºÑÐ¸Ð¿ÑÐ¸ÑÐµÑÐºÐ¸Ñ Ð²Ð°ÑÐ¸Ð°Ð½ÑÐ¾Ð² ÑÐ¾Ð²ÑÐµÐ¼ÐµÐ½Ð½ÑÐ¼Ð¸ Ð¼Ð¾Ð»ÐµÐºÑÐ»ÑÑÐ½Ð¾-Ð³ÐµÐ½ÐµÑÐ¸ÑÐµÑÐºÐ¸Ð¼Ð¸ Ð¼ÐµÑÐ¾Ð´Ð°Ð¼Ð¸ Ð´Ð¸Ð°Ð³Ð½Ð¾ÑÑÐ¸ÐºÐ¸ ÑÑÐ¾Ð½Ð¸ÑÐµÑÐºÐ¾Ð³Ð¾ Ð¼Ð¸ÐµÐ»Ð¾ÑÐ¸ÑÐ°ÑÐ½Ð¾Ð³Ð¾ Ð»ÐµÐ¹ÐºÐ¾Ð·Ð°. ÐÐ°Ð´Ð°ÑÐ¸, ÐºÐ¾ÑÐ¾ÑÑÐµ ÑÐµÑÐ°Ð»Ð¸ÑÑ Ð² ÑÐ¾Ð´Ðµ Ð¸ÑÑÐ»ÐµÐ´Ð¾Ð²Ð°Ð½Ð¸Ñ: 1) ÐÐ¿ÑÐµÐ´ÐµÐ»ÐµÐ½Ð¸Ðµ Ð½Ð°Ð»Ð¸ÑÐ¸Ñ Ð´Ð¾Ð¿Ð¾Ð»Ð½Ð¸ÑÐµÐ»ÑÐ½ÑÑ ÑÑÐ¾Ð¼Ð¾ÑÐ¾Ð¼Ð½ÑÑ Ð°Ð±ÐµÑÑÐ°ÑÐ¸Ð¹ Ð½Ð°ÑÑÐ´Ñ Ñ Ð¾Ð±Ð½Ð°ÑÑÐ¶ÐµÐ½Ð¸ÐµÐ¼ ÑÐ¸Ð»Ð°Ð´ÐµÐ»ÑÑÐ¸Ð¹ÑÐºÐ¾Ð¹ ÑÑÐ¾Ð¼Ð¾ÑÐ¾Ð¼Ñ Ñ Ð¿Ð¾Ð¼Ð¾ÑÑÑ ÑÐ¸ÑÐ¾Ð³ÐµÐ½ÐµÑÐ¸ÑÐµÑÐºÐ¸Ñ Ð¼ÐµÑÐ¾Ð´Ð¾Ð² Ð¸ FISH-Ð¸ÑÑÐ»ÐµÐ´Ð¾Ð²Ð°Ð½Ð¸Ñ Ñ Ð±Ð¾Ð»ÑÐ½ÑÑ ÑÑÐ¾Ð½Ð¸ÑÐµÑÐºÐ¸Ð¼ Ð¼Ð¸ÐµÐ»Ð¾ÑÐ¸ÑÐ°ÑÐ½ÑÐ¼ Ð»ÐµÐ¹ÐºÐ¾Ð·Ð¾Ð¼; 2) ÐÑÑÐ²Ð»ÐµÐ½Ð¸Ðµ Ð·Ð½Ð°ÑÐ¸Ð¼Ð¾ÑÑÐ¸ Ð²ÑÑÐ²Ð»ÐµÐ½Ð¸Ñ Ð³ÐµÐ½Ð° bcr::abl Ð¸ Ð²Ð°ÑÐ¸Ð°Ð½ÑÐ¾Ð² ÐµÐ³Ð¾ ÑÑÐ°Ð½ÑÐºÑÐ¸Ð¿ÑÐ¾Ð² Ñ Ð±Ð¾Ð»ÑÐ½ÑÑ ÑÑÐ¾Ð½Ð¸ÑÐµÑÐºÐ¸Ð¼ Ð¼Ð¸ÐµÐ»Ð¾ÑÐ¸ÑÐ°ÑÐ½ÑÐ¼ Ð»ÐµÐ¹ÐºÐ¾Ð·Ð¾Ð¼; 3) ÐÑÐ¾Ð²ÐµÐ´ÐµÐ½Ð¸Ðµ Ð°Ð½Ð°Ð»Ð¸Ð·Ð° Ð²Ð»Ð¸ÑÐ½Ð¸Ñ Ð´Ð¾Ð¿Ð¾Ð»Ð½Ð¸ÑÐµÐ»ÑÐ½ÑÑ ÑÑÐ¾Ð¼Ð¾ÑÐ¾Ð¼Ð½ÑÑ Ð°Ð±ÐµÑÑÐ°ÑÐ¸Ð¹ Ð¸ ÐºÑÐ¸Ð¿ÑÐ¸ÑÐµÑÐºÐ¸Ñ Ð¼ÑÑÐ°ÑÐ¸Ð¹ Ð½Ð° ÑÐµÑÐµÐ½Ð¸Ðµ ÑÑÐ¾Ð½Ð¸ÑÐµÑÐºÐ¾Ð³Ð¾ Ð¼Ð¸ÐµÐ»Ð¾ÑÐ¸ÑÐ°ÑÐ½Ð¾Ð³Ð¾ Ð»ÐµÐ¹ÐºÐ¾Ð·Ð° Ð¸ Ð²ÑÐ¶Ð¸Ð²Ð°ÐµÐ¼Ð¾ÑÑÑ Ð±Ð¾Ð»ÑÐ½ÑÑ. Ð¡ÑÐ°ÑÐ¸ÑÑÐ¸ÑÐµÑÐºÐ°Ñ Ð¾Ð±ÑÐ°Ð±Ð¾ÑÐºÐ° Ð¿Ð¾Ð»ÑÑÐµÐ½Ð½ÑÑ ÑÐµÐ·ÑÐ»ÑÑÐ°ÑÐ¾Ð² Ð¿ÑÐ¾Ð²Ð¾Ð´Ð¸Ð»Ð°ÑÑ Ñ Ð¸ÑÐ¿Ð¾Ð»ÑÐ·Ð¾Ð²Ð°Ð½Ð¸ÐµÐ¼ ÑÐ¾Ð²ÑÐµÐ¼ÐµÐ½Ð½ÑÑ Ð¿Ð°ÐºÐµÑÐ¾Ð² ÑÑÐ°ÑÐ¸ÑÑÐ¸ÑÐµÑÐºÐ¸Ñ Ð¿ÑÐ¾Ð³ÑÐ°Ð¼Ð¼: Statistica 10, GraphPad Prism 5, SPSS Statistics. Ð ÑÐ°Ð±Ð¾ÑÐµ Ð²Ð¿ÐµÑÐ²ÑÐµ Ð¿ÑÐ¾Ð²ÐµÐ´ÐµÐ½ ÐºÐ¾Ð¼Ð¿Ð»ÐµÐºÑÐ½ÑÐ¹ Ð°Ð½Ð°Ð»Ð¸Ð· Ð¸Ð·Ð¼ÐµÐ½ÐµÐ½Ð¸Ð¹ Ð¼ÑÑÐ°ÑÐ¸Ð¹ Ð³ÐµÐ½Ð° bcr::abl ÑÐ¾Ð²ÑÐµÐ¼ÐµÐ½Ð½ÑÐ¼Ð¸ Ð¼ÐµÑÐ¾Ð´Ð°Ð¼Ð¸ ÑÐ¸ÑÐ¾Ð³ÐµÐ½ÐµÑÐ¸ÑÐµÑÐºÐ¾Ð¹ Ð¸ Ð¼Ð¾Ð»ÐµÐºÑÐ»ÑÑÐ½Ð¾- Ð³ÐµÐ½ÐµÑÐ¸ÑÐµÑÐºÐ¾Ð¹ Ð´Ð¸Ð°Ð³Ð½Ð¾ÑÑÐ¸ÐºÐ¸ Ð² ÐÐ°ÑÑÐ½Ð¾-Ð¸ÑÑÐ»ÐµÐ´Ð¾Ð²Ð°ÑÐµÐ»ÑÑÐºÐ¾Ð¼ ÑÐµÐ½ÑÑÐµ ÐºÐ»ÐµÑÐ¾ÑÐ½Ð¾Ð¹ Ð¸ Ð¼Ð¾Ð»ÐµÐºÑÐ»ÑÑÐ½Ð¾Ð¹ Ð¿Ð°ÑÐ¾Ð»Ð¾Ð³Ð¸Ð¸ Ð¤ÐÐÐ£ Ð Ð¾ÑÐÐÐÐÐ¢ Ð¤ÐÐÐ Ð Ð¾ÑÑÐ¸Ð¸ Ñ ÑÐ¾ÑÐºÐ¸ Ð·ÑÐµÐ½Ð¸Ñ Ð¿ÐµÑÐ²Ð¸ÑÐ½Ð¾Ð³Ð¾ Ð¸ ÑÐµÑÑÐ¾ÑÐ¿ÐµÐºÑÐ¸Ð²Ð½Ð¾Ð³Ð¾ Ð°Ð½Ð°Ð»Ð¸Ð·Ð° ÑÐ¾ÑÑÐ¾ÑÐ½Ð¸Ñ Ð±Ð¾Ð»ÑÐ½ÑÑ Ð¥ÐÐ. Ð ÑÐµÐ·ÑÐ»ÑÑÐ°ÑÐµ Ð¿ÐµÑÐ²Ð¸ÑÐ½Ð¾Ð³Ð¾ Ð¸ Ð´Ð»Ð¸ÑÐµÐ»ÑÐ½Ð¾Ð³Ð¾ Ð°Ð½Ð°Ð»Ð¸Ð·Ð° Ð¾Ð¿Ð¸ÑÐ°Ð½Ð¾, ÑÑÐ¾ Ð¿Ð¾Ð¼Ð¸Ð¼Ð¾ Ð¾ÑÐ½Ð¾Ð²Ð½Ð¾Ð³Ð¾ Ð²Ð°ÑÐ¸Ð°Ð½ÑÐ° Ð³ÐµÐ½Ð° bcr::abl Ð¾Ð¿ÑÐµÐ´ÐµÐ»ÑÑÑÑÑ ÑÐµÐ´ÐºÐ¸Ðµ ÑÑÐ°Ð½ÑÐºÑÐ¸Ð¿ÑÑ b3a2, b2a2, b3a3 Ð¸ Ñ 5 Ð¿Ð°ÑÐ¸ÐµÐ½ÑÐ¾Ð² Ð±ÑÐ»Ð¸ Ð²ÑÑÐ²Ð»ÐµÐ½Ñ Ð¼ÑÑÐ°ÑÐ¸Ð¸ â T315I, E355G, G250E, D363Y, E279K, Ð¾Ð´Ð¸Ð½ Ð¿Ð°ÑÐ¸ÐµÐ½Ñ Ð¸Ð¼ÐµÐ» Ð¾Ð´Ð½Ð¾Ð²ÑÐµÐ¼ÐµÐ½Ð½Ð¾ Ð´Ð²Ðµ Ð¼ÑÑÐ°ÑÐ¸Ð¸: F359C Ð¸ T315I. ÐÐ¾Ð»ÑÑÐµÐ½Ð½ÑÐµ ÑÐµÐ·ÑÐ»ÑÑÐ°ÑÑ Ð¸Ð¼ÐµÑÑ Ð²Ð°Ð¶Ð½Ð¾Ðµ Ð·Ð½Ð°ÑÐµÐ½Ð¸Ðµ Ð´Ð»Ñ Ð¾ÑÐµÐ½ÐºÐ¸ Ð³ÐµÐ½ÐµÑÐ¸ÑÐµÑÐºÐ¾Ð³Ð¾ ÑÑÐ°ÑÑÑÐ°, ÑÐµÑÐµÐ½Ð¸Ñ Ð¥ÐÐ Ð¸ Ð¿ÑÐ¾Ð³Ð½Ð¾Ð·Ð° Ð²ÑÐ¶Ð¸Ð²Ð°ÐµÐ¼Ð¾ÑÑÐ¸ Ð±Ð¾Ð»ÑÐ½ÑÑ.
description: This work is devoted to determining the role of bcr::abl gene mutations, as well as their cryptic variants, by using modern molecular genetic methods in the diagnosis of chronic myeloid leukaemia. The aims of the study were 1) To identify the presence of additional chromosomal aberrations and to detect the Philadelphia chromosome using cytogenetic methods and FISH study in patients with chronic myeloid leukaemia; 2) To determine the significance of detecting the bcr::abl gene its transcript variations for patients diagnosed with chronic myeloid leukaemia; 3) To analyse the influence of additional aberrations and cryptic mutations on the course of chronic myeloid leukaemia and patient survival. Statistical processing of the obtained results was carried out using modern statistical software packages: Statistica 10, GraphPad Prism 5, SPSS Statistics. This work is the first comprehensive analysis of bcr::abl gene mutation changes by modern methods of molecular genetic and cytogenetic diagnostics in the Research Centre of Cellular and Molecular Pathology of FGBU RosNIIGT FMBA of Russia in terms of primary and retrospective analysis of CML patients. In addition to the major variant of the bcr::abl gene, the initial and long-term analysis revealed the rare transcripts b3a2, b2a2, b3a3 and the mutations T315I, E355G, G250E, D363Y, E279K in 5 patients, and two mutations simultaneously in one patient: F359C and T315I. The results are important for assessing genetic status, CML progression and patient survival prognosis.