title: ÐÐ¾Ð»ÐµÐºÑÐ»ÑÑÐ½Ð¾-Ð³ÐµÐ½ÐµÑÐ¸ÑÐµÑÐºÐ¾Ðµ ÑÐµÑÑÐ¸ÑÐ¾Ð²Ð°Ð½Ð¸Ðµ Ð³ÐµÐ½Ð° PIK3CA Ð¿ÑÐ¸ ÑÐ¿ÐµÐºÑÑÐµ ÑÐ¸Ð½Ð´ÑÐ¾Ð¼Ð¾Ð² Ð¸Ð·Ð±ÑÑÐ¾ÑÐ½Ð¾Ð³Ð¾ ÑÐ¾ÑÑÐ° (PROS)
title: Ð²ÑÐ¿ÑÑÐºÐ½Ð°Ñ ÐºÐ²Ð°Ð»Ð¸ÑÐ¸ÐºÐ°ÑÐ¸Ð¾Ð½Ð½Ð°Ñ ÑÐ°Ð±Ð¾ÑÐ° Ð±Ð°ÐºÐ°Ð»Ð°Ð²ÑÐ°
titleType: Subtitle
title: Molecular-genetic testing of PIK3CA gene in the PIK3CA-related overgrowth spectrum (PROS)
Creators: name: ÐÐ°ÑÐ½Ð°ÐºÐ¾Ð²Ð°, Ð®Ð»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: 2024
Subjects: ÑÐ¿ÐµÐºÑÑ ÑÐ¸Ð½Ð´ÑÐ¾Ð¼Ð¾Ð² Ð¸Ð·Ð±ÑÑÐ¾ÑÐ½Ð¾Ð³Ð¾ ÑÐ¾ÑÑÐ° ÑÐ²ÑÐ·Ð°Ð½Ð½ÑÑ Ñ Ð¼ÑÑÐ°ÑÐ¸ÐµÐ¹ Ð² Ð³ÐµÐ½Ðµ PIK3CA
Ð¿Ð¾Ð»Ð¸Ð¼ÐµÑÐ°Ð·Ð½Ð°Ñ ÑÐµÐ¿Ð½Ð°Ñ ÑÐµÐ°ÐºÑÐ¸Ñ
Ð·Ð¾Ð½Ð´
Ð¼ÑÑÐ°ÑÐ¸Ñ
PIK3CA related overgrowth spectrum
polymerase chain reaction
probe
mutation

description: ÐÐ½Ð°Ð»Ð¸Ð· ÑÐ¿ÐµÐºÑÑÐ° ÑÐ¸Ð½Ð´ÑÐ¾Ð¼Ð¾Ð² Ð¸Ð·Ð±ÑÑÐ¾ÑÐ½Ð¾Ð³Ð¾ ÑÐ¾ÑÑÐ° (PROS), ÑÐ²ÑÐ·Ð°Ð½Ð½ÑÑ Ñ Ð¼ÑÑÐ°ÑÐ¸ÑÐ¼Ð¸ Ð² Ð³ÐµÐ½Ðµ PIK3CA, Ð¿ÑÐµÐ´ÑÑÐ°Ð²Ð»ÑÐµÑ ÑÐ¾Ð±Ð¾Ð¹ Ð¸ÑÑÐ»ÐµÐ´Ð¾Ð²Ð°Ð½Ð¸Ðµ ÑÐµÐ´ÐºÐ¸Ñ Ð¿Ð°ÑÐ¾Ð»Ð¾Ð³Ð¸Ð¹, ÑÐ°ÑÐ°ÐºÑÐµÑÐ¸Ð·ÑÑÑÐ¸ÑÑÑ Ð´ÐµÑÐµÐºÑÐ°Ð¼Ð¸ Ð² ÑÐ°Ð·Ð²Ð¸ÑÐ¸Ð¸ Ð¸ Ð¸Ð·Ð±ÑÑÐ¾ÑÐ½ÑÐ¼ ÑÐ¾ÑÑÐ¾Ð¼ ÑÐ°Ð·Ð»Ð¸ÑÐ½ÑÑ ÑÐºÐ°Ð½ÐµÐ¹. Ð­ÑÐ¸ Ð·Ð°Ð±Ð¾Ð»ÐµÐ²Ð°Ð½Ð¸Ñ Ð¾Ð±ÑÑÐ»Ð¾Ð²Ð»ÐµÐ½Ñ ÑÐ¾Ð¼Ð°ÑÐ¸ÑÐµÑÐºÐ¸Ð¼Ð¸ Ð¼ÑÑÐ°ÑÐ¸ÑÐ¼Ð¸ Ð² Ð³ÐµÐ½Ðµ PIK3CA, Ð²Ð¾Ð·Ð½Ð¸ÐºÐ°ÑÑÐ¸Ð¼Ð¸ Ð² ÑÐ°Ð½Ð½ÐµÐ¼ ÑÐ¼Ð±ÑÐ¸Ð¾Ð½Ð°Ð»ÑÐ½Ð¾Ð¼ Ð¿ÐµÑÐ¸Ð¾Ð´Ðµ. Ð­ÑÐ¸ Ð¼ÑÑÐ°ÑÐ¸Ð¸ ÑÐ°ÑÑÐ¾ Ð¸Ð¼ÐµÑÑ Ð¼Ð¾Ð·Ð°Ð¸ÑÐ½ÑÐ¹ ÑÐ°ÑÐ°ÐºÑÐµÑ, ÑÑÐ¾ ÑÐ¾Ð·Ð´Ð°ÐµÑ ÑÑÑÐ´Ð½Ð¾ÑÑÐ¸ Ð´Ð»Ñ Ð¼Ð¾Ð»ÐµÐºÑÐ»ÑÑÐ½Ð¾Ð¹ Ð´Ð¸Ð°Ð³Ð½Ð¾ÑÑÐ¸ÐºÐ¸. Ð¡Ð¾Ð¼Ð°ÑÐ¸ÑÐµÑÐºÐ¸Ðµ Ð¸Ð·Ð¼ÐµÐ½ÐµÐ½Ð¸Ñ Ð² Ð³ÐµÐ½Ðµ PIK3CA Ð¿ÑÐ¸Ð²Ð¾Ð´ÑÑ Ðº Ð°ÐºÑÐ¸Ð²Ð°ÑÐ¸Ð¸ ÑÐ¾ÑÑÐ¾Ð¸Ð½Ð¾Ð·Ð¸ÑÐ¸Ð´-3-ÐºÐ¸Ð½Ð°Ð·Ð½Ð¾Ð³Ð¾ Ð¿ÑÑÐ¸, ÐºÐ¾ÑÐ¾ÑÑÐ¹ ÑÐ²Ð»ÑÐµÑÑÑ ÐºÐ»ÑÑÐµÐ²ÑÐ¼ ÑÐ¸Ð³Ð½Ð°Ð»ÑÐ½ÑÐ¼ Ð¼ÐµÑÐ°Ð½Ð¸Ð·Ð¼Ð¾Ð¼, ÑÐµÐ³ÑÐ»Ð¸ÑÑÑÑÐ¸Ð¼ Ð°Ð¿Ð¾Ð¿ÑÐ¾Ð·, ÑÐ¾ÑÑ Ð¸ Ð¿ÑÐ¾Ð»Ð¸ÑÐµÑÐ°ÑÐ¸Ñ ÐºÐ»ÐµÑÐ¾Ðº. ÐÐ¸Ð¿ÐµÑÐ°ÐºÑÐ¸Ð²Ð°ÑÐ¸Ñ ÑÑÐ¾Ð³Ð¾ Ð¿ÑÑÐ¸ Ð¼Ð¾Ð¶ÐµÑ ÑÐ¿Ð¾ÑÐ¾Ð±ÑÑÐ²Ð¾Ð²Ð°ÑÑ ÑÐ°Ð·Ð²Ð¸ÑÐ¸Ñ Ð¾Ð¿ÑÑÐ¾Ð»ÐµÐ¹, Ð°Ð½Ð¾Ð¼Ð°Ð»Ð¸Ð¹ ÑÐ¾ÑÑÐ´Ð¾Ð² Ð¸ Ð¸Ð·Ð±ÑÑÐ¾ÑÐ½Ð¾Ð³Ð¾ ÑÐ¾ÑÑÐ° ÑÐºÐ°Ð½ÐµÐ¹. ÐÐ¿ÑÐµÐ´ÐµÐ»ÐµÐ½Ð¸Ðµ Ð¼ÑÑÐ°ÑÐ¸Ð¹ Ð² Ð³ÐµÐ½Ðµ PIK3CA Ð¿ÑÐ¸Ð¾Ð±ÑÐµÑÐ°ÐµÑ Ð¾ÑÐ¾Ð±ÑÑ Ð²Ð°Ð¶Ð½Ð¾ÑÑÑ Ñ Ð²Ð½ÐµÐ´ÑÐµÐ½Ð¸ÐµÐ¼ Ð¸Ð½Ð³Ð¸Ð±Ð¸ÑÐ¾ÑÐ° PI3K, ÑÐ°ÐºÐ¾Ð³Ð¾ ÐºÐ°Ðº Ð°Ð»Ð¿ÐµÐ»Ð¸ÑÐ¸Ð±. ÐÐ·Ð½Ð°ÑÐ°Ð»ÑÐ½Ð¾ Ð¾Ð´Ð¾Ð±ÑÐµÐ½Ð½ÑÐ¹ Ð´Ð»Ñ Ð»ÐµÑÐµÐ½Ð¸Ñ ÑÐ°ÐºÐ° Ð¼Ð¾Ð»Ð¾ÑÐ½Ð¾Ð¹ Ð¶ÐµÐ»ÐµÐ·Ñ Ñ Ð¼ÑÑÐ°ÑÐ¸ÑÐ¼Ð¸ PIK3CA, Ð°Ð»Ð¿ÐµÐ»Ð¸ÑÐ¸Ð± Ð´ÐµÐ¼Ð¾Ð½ÑÑÑÐ¸ÑÑÐµÑ ÑÑÑÐµÐºÑÐ¸Ð²Ð½Ð¾ÑÑÑ ÑÐ°ÐºÐ¶Ðµ Ð¸ Ñ Ð¿Ð°ÑÐ¸ÐµÐ½ÑÐ¾Ð² Ñ PROS. Ð¦ÐµÐ»Ñ ÑÐ°Ð±Ð¾ÑÑ - Ð°Ð½Ð°Ð»Ð¸Ð· ÑÐ°ÑÑÐ¾ÑÑ Ð¼ÑÑÐ°ÑÐ¸Ð¹ PIK3CA Ñ Ð¿Ð°ÑÐ¸ÐµÐ½ÑÐ¾Ð² Ñ Ð¿Ð¾Ð´Ð¾Ð·ÑÐµÐ½Ð¸ÐµÐ¼ Ð½Ð° PROS. Ð Ð´Ð°Ð½Ð½Ð¾Ð¹ ÑÐ°Ð±Ð¾ÑÐµ Ð¿ÑÐµÐ´ÑÑÐ°Ð²Ð»ÐµÐ½ Ð´Ð¸Ð·Ð°Ð¹Ð½ ÑÐµÑÑ-ÑÐ¸ÑÑÐµÐ¼Ñ Ð´Ð»Ñ Ð´Ð¸Ð°Ð³Ð½Ð¾ÑÑÐ¸ÐºÐ¸ Ð¿Ð°ÑÐ¸ÐµÐ½ÑÐ¾Ð² Ñ Ð¿Ð¾Ð´Ð¾Ð·ÑÐµÐ½Ð¸ÐµÐ¼ Ð½Ð° PROS. ÐÑÐ»Ð¸ Ð¿ÑÐ¾Ð°Ð½Ð°Ð»Ð¸Ð·Ð¸ÑÐ¾Ð²Ð°Ð½Ñ 116 Ð¾Ð±ÑÐ°Ð·ÑÐ¾Ð², Ð¿ÑÐ¸ ÑÑÐ¾Ð¼ ÑÐ°ÑÑÐ¾ÑÐ° Ð¾Ð±Ð½Ð°ÑÑÐ¶ÐµÐ½Ð¸Ñ Ð¼ÑÑÐ°ÑÐ¸Ð¹ ÑÐ¾ÑÑÐ°Ð²Ð¸Ð»Ð° 48,3%. ÐÐ· Ð²ÑÐµÑ Ð²ÑÑÐ²Ð»ÐµÐ½Ð½ÑÑ Ð¼ÑÑÐ°ÑÐ¸Ð¹, 78% ÑÐ¾ÑÑÐ°Ð²Ð»ÑÐ»Ð¸ ÑÐ°ÑÐ¿ÑÐ¾ÑÑÑÐ°Ð½ÐµÐ½Ð½ÑÐµ Ð¼Ð¸ÑÑÐµÐ½Ñ-Ð·Ð°Ð¼ÐµÐ½Ñ Ð² Ð³ÐµÐ½Ðµ PIK3CA.
description: Analysis of the spectrum of overgrowth syndromes (PROS) associated with mutations in the PIK3CA gene is a study of rare pathologies characterized by developmental defects and overgrowth of various tissues. These diseases are caused by somatic mutations in the PIK3CA gene that arise during the early embryonic period. These mutations are often mosaic in nature, which creates difficulties for molecular diagnosis. Somatic alterations in the PIK3CA gene result in activation of the phosphoinositide-3-kinase pathway, which is a key signaling mechanism regulating apoptosis, cell growth and proliferation. Hyperactivation of this pathway may contribute to the development of tumors, vascular abnormalities, and tissue overgrowth. Identifying mutations in the PIK3CA gene has become particularly important with the introduction of PI3K inhibitors such as alpelisib. Originally approved for the treatment of breast cancer with PIK3CA mutations, alpelisib is demonstrating efficacy in patients with PROS as well. The aim of this study is to analyze the prevalence of PIK3CA mutations in patients with suspected PROS. This paper describes the design of a diagnostic test system for patients with suspected PROS, which was applied to 116 patient samples. The mutation detection rate was 48.3%, with 78% of all detected mutations being common missense substitutions in the PIK3CA gene.