{"id":13413,"date":"2024-08-22T23:59:57","date_gmt":"2024-08-22T21:59:57","guid":{"rendered":"https:\/\/valintermed.com\/?p=13413"},"modified":"2024-08-22T23:59:57","modified_gmt":"2024-08-22T21:59:57","slug":"sindromy-opuholi-vilmsa-svyazannye-s-wt1","status":"publish","type":"post","link":"https:\/\/valintermed.com\/en\/medlibrary\/syndromes-of-tumors-of-the-vilmsa-associated-with-wt1\/","title":{"rendered":"Wilms tumor syndromes associated with WT1"},"content":{"rendered":"<div class=\"fpm_start\"><\/div>\n<p>Wilms tumor syndromes (Wilms syndrome) are rare malignant neoplasms of the kidneys, characterized by tumor formation against the background of various genetic disorders. This type of tumor is most often found in children, especially between the ages of 2 and 5 years, and accounts for almost 5% of all cases of childhood cancer. The association of Wilms tumor syndromes with the WT1 gene (Wilms Tumor 1) is key to understanding the pathogenesis of the disease. The WT1 gene is located on chromosome 11p13 and plays an important role in the development of the kidneys and other organs, including the gonads. Mutations in this gene are associated with the development of Wilms tumor, as well as with several hereditary syndromes, such as Williams syndrome and Down syndrome.<\/p>\n<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_85 counter-flat ez-toc-counter ez-toc-light-blue ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">Content<\/p>\n<span class=\"ez-toc-title-toggle\"><a href=\"#\" class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" aria-label=\"Toggle Table of Content\"><span class=\"ez-toc-js-icon-con\"><span class=\"\"><span class=\"eztoc-hide\" style=\"display:none;\">Toggle<\/span><span class=\"ez-toc-icon-toggle-span\"><svg style=\"fill: #999;color:#999\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" class=\"list-377408\" width=\"20px\" height=\"20px\" viewbox=\"0 0 24 24\" fill=\"none\"><path d=\"M6 6H4v2h2V6zm14 0H8v2h12V6zM4 11h2v2H4v-2zm16 0H8v2h12v-2zM4 16h2v2H4v-2zm16 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href=\"https:\/\/valintermed.com\/en\/medlibrary\/syndromes-of-tumors-of-the-vilmsa-associated-with-wt1\/#%D0%98%D1%81%D1%82%D0%BE%D1%80%D0%B8%D1%8F_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F_%D0%B8_%D0%B8%D0%BD%D1%82%D0%B5%D1%80%D0%B5%D1%81%D0%BD%D1%8B%D0%B5_%D0%B8%D1%81%D1%82%D0%BE%D1%80%D0%B8%D1%87%D0%B5%D1%81%D0%BA%D0%B8%D0%B5_%D1%84%D0%B0%D0%BA%D1%82%D1%8B\" >History of the disease and interesting historical facts<\/a><\/li><li class='ez-toc-page-1'><a class=\"ez-toc-link ez-toc-heading-2\" href=\"https:\/\/valintermed.com\/en\/medlibrary\/syndromes-of-tumors-of-the-vilmsa-associated-with-wt1\/#%D0%AD%D0%BF%D0%B8%D0%B4%D0%B5%D0%BC%D0%B8%D0%BE%D0%BB%D0%BE%D0%B3%D0%B8%D1%8F\" >Epidemiology<\/a><\/li><li class='ez-toc-page-1'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/valintermed.com\/en\/medlibrary\/syndromes-of-tumors-of-the-vilmsa-associated-with-wt1\/#%D0%93%D0%B5%D0%BD%D0%B5%D1%82%D0%B8%D1%87%D0%B5%D1%81%D0%BA%D0%B0%D1%8F_%D0%BF%D1%80%D0%B5%D0%B4%D1%80%D0%B0%D1%81%D0%BF%D0%BE%D0%BB%D0%BE%D0%B6%D0%B5%D0%BD%D0%BD%D0%BE%D1%81%D1%82%D1%8C_%D0%BA_%D0%B4%D0%B0%D0%BD%D0%BD%D0%BE%D0%BC%D1%83_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8E\" >Genetic predisposition to this disease<\/a><\/li><li class='ez-toc-page-1'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/valintermed.com\/en\/medlibrary\/syndromes-of-tumors-of-the-vilmsa-associated-with-wt1\/#%D0%A4%D0%B0%D0%BA%D1%82%D0%BE%D1%80%D1%8B_%D1%80%D0%B8%D1%81%D0%BA%D0%B0_%D0%B2%D0%BE%D0%B7%D0%BD%D0%B8%D0%BA%D0%BD%D0%BE%D0%B2%D0%B5%D0%BD%D0%B8%D1%8F_%D0%B4%D0%B0%D0%BD%D0%BD%D0%BE%D0%B3%D0%BE_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F\" >Risk factors for the development of this disease<\/a><\/li><li class='ez-toc-page-1'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/valintermed.com\/en\/medlibrary\/syndromes-of-tumors-of-the-vilmsa-associated-with-wt1\/#%D0%94%D0%B8%D0%B0%D0%B3%D0%BD%D0%BE%D1%81%D1%82%D0%B8%D0%BA%D0%B0_%D0%B4%D0%B0%D0%BD%D0%BD%D0%BE%D0%B3%D0%BE_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F\" >Diagnosis of this disease<\/a><\/li><li class='ez-toc-page-1'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/valintermed.com\/en\/medlibrary\/syndromes-of-tumors-of-the-vilmsa-associated-with-wt1\/#%D0%9B%D0%B5%D1%87%D0%B5%D0%BD%D0%B8%D0%B5\" >Treatment<\/a><\/li><li class='ez-toc-page-1'><a class=\"ez-toc-link ez-toc-heading-7\" href=\"https:\/\/valintermed.com\/en\/medlibrary\/syndromes-of-tumors-of-the-vilmsa-associated-with-wt1\/#%D0%A1%D0%BF%D0%B8%D1%81%D0%BE%D0%BA_%D0%BB%D0%B5%D0%BA%D0%B0%D1%80%D1%81%D1%82%D0%B2_%D0%BF%D1%80%D0%B8%D0%BC%D0%B5%D0%BD%D1%8F%D0%B5%D0%BC%D1%8B%D1%85_%D0%B4%D0%BB%D1%8F_%D0%BB%D0%B5%D1%87%D0%B5%D0%BD%D0%B8%D1%8F_%D0%B4%D0%B0%D0%BD%D0%BD%D0%BE%D0%B3%D0%BE_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F\" >List of medications used to treat this disease<\/a><\/li><li class='ez-toc-page-1'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/valintermed.com\/en\/medlibrary\/syndromes-of-tumors-of-the-vilmsa-associated-with-wt1\/#%D0%9C%D0%BE%D0%BD%D0%B8%D1%82%D0%BE%D1%80%D0%B8%D0%BD%D0%B3_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F\" >Disease monitoring<\/a><\/li><li class='ez-toc-page-1'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/valintermed.com\/en\/medlibrary\/syndromes-of-tumors-of-the-vilmsa-associated-with-wt1\/#%D0%92%D0%BE%D0%B7%D1%80%D0%B0%D1%81%D1%82%D0%BD%D1%8B%D0%B5_%D0%BE%D1%81%D0%BE%D0%B1%D0%B5%D0%BD%D0%BD%D0%BE%D1%81%D1%82%D0%B8_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F\" >Age-related features of the disease<\/a><\/li><li class='ez-toc-page-1'><a class=\"ez-toc-link ez-toc-heading-10\" href=\"https:\/\/valintermed.com\/en\/medlibrary\/syndromes-of-tumors-of-the-vilmsa-associated-with-wt1\/#%D0%92%D0%BE%D0%BF%D1%80%D0%BE%D1%81%D1%8B_%D0%B8_%D0%BE%D1%82%D0%B2%D0%B5%D1%82%D1%8B\" >Questions and Answers<\/a><\/li><\/ul><\/nav><\/div>\n<h2><span class=\"ez-toc-section\" id=\"%D0%98%D1%81%D1%82%D0%BE%D1%80%D0%B8%D1%8F_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F_%D0%B8_%D0%B8%D0%BD%D1%82%D0%B5%D1%80%D0%B5%D1%81%D0%BD%D1%8B%D0%B5_%D0%B8%D1%81%D1%82%D0%BE%D1%80%D0%B8%D1%87%D0%B5%D1%81%D0%BA%D0%B8%D0%B5_%D1%84%D0%B0%D0%BA%D1%82%D1%8B\"><\/span>History of the disease and interesting historical facts<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>Wilms syndrome was first described in 1899 by Dr. Max Wilms, who noticed characteristic morphological changes in childhood renal tumors. Over time, a link between the tumor and genetic factors was established, and intensive research began in the 1990s to identify mutations in the WT1 gene. Wilms tumor syndromes are currently the subject of active international research, and the findings have provided new information on pathogenesis and treatment. Associations have been established between acute forms of the disease and additional anomalies, such as genitourinary anomalies and mental retardation.<\/p>\n<h2><span class=\"ez-toc-section\" id=\"%D0%AD%D0%BF%D0%B8%D0%B4%D0%B5%D0%BC%D0%B8%D0%BE%D0%BB%D0%BE%D0%B3%D0%B8%D1%8F\"><\/span>Epidemiology<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>Wilms tumor is statistically the most common solid tumor in children and the second most common after leukemia. According to various studies, the incidence is approximately 8-10 cases per million children per year. The syndrome occurs more often in boys than in girls, with a ratio of 1.5:1. In addition, geographic differences have been recorded, with epidemiological studies showing a higher incidence in black children compared to white children. In addition, more than 50% cases of Wilms tumor are accompanied by hereditary anomalies, which emphasizes the importance of the genetic component.<\/p>\n<h2><span class=\"ez-toc-section\" id=\"%D0%93%D0%B5%D0%BD%D0%B5%D1%82%D0%B8%D1%87%D0%B5%D1%81%D0%BA%D0%B0%D1%8F_%D0%BF%D1%80%D0%B5%D0%B4%D1%80%D0%B0%D1%81%D0%BF%D0%BE%D0%BB%D0%BE%D0%B6%D0%B5%D0%BD%D0%BD%D0%BE%D1%81%D1%82%D1%8C_%D0%BA_%D0%B4%D0%B0%D0%BD%D0%BD%D0%BE%D0%BC%D1%83_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8E\"><\/span>Genetic predisposition to this disease<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>The main gene associated with Wilms tumor is WT1, which is located on chromosome 11p13. Mutations in this gene can be both hereditary and spontaneous. The presence of WT1 mutations is associated with various syndromes, including Williams syndrome and Fanconi syndrome. Correlations have also been established between mutations in other genes, such as CTNNB1 and TP53, which can affect the predisposition to tumor development. The relationship between gene mutations and the phenotype of the disease is currently being studied. It is important to emphasize that the presence of predisposing genetic variations significantly increases the risk of tumor development in children with the corresponding hereditary syndromes.<\/p>\n<h2><span class=\"ez-toc-section\" id=\"%D0%A4%D0%B0%D0%BA%D1%82%D0%BE%D1%80%D1%8B_%D1%80%D0%B8%D1%81%D0%BA%D0%B0_%D0%B2%D0%BE%D0%B7%D0%BD%D0%B8%D0%BA%D0%BD%D0%BE%D0%B2%D0%B5%D0%BD%D0%B8%D1%8F_%D0%B4%D0%B0%D0%BD%D0%BD%D0%BE%D0%B3%D0%BE_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F\"><\/span>Risk factors for the development of this disease<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>There are various risk factors associated with Wilms tumor, including:<\/p>\n<ul>\n<li>Heredity: presence of syndromes associated with mutations of WT1 and other genes.<\/li>\n<li>Environmental factors: exposure to chemical carcinogens such as pesticides and some drugs.<\/li>\n<li>Developmental anomalies: presence of structural anomalies of the kidneys or genitourinary system.<\/li>\n<li>Gender: Boys are more susceptible to the disease than girls.<\/li>\n<li>Ethnic groups: Increased risk among black children compared with children of other ethnic groups.<\/li>\n<\/ul>\n<h2><span class=\"ez-toc-section\" id=\"%D0%94%D0%B8%D0%B0%D0%B3%D0%BD%D0%BE%D1%81%D1%82%D0%B8%D0%BA%D0%B0_%D0%B4%D0%B0%D0%BD%D0%BD%D0%BE%D0%B3%D0%BE_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F\"><\/span>Diagnosis of this disease<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>Various methods are used to diagnose Willms tumor, including:<\/p>\n<ul>\n<li><strong>Main symptoms:<\/strong> abdominal distension, abdominal cramps, blood in the urine and unplanned weight loss.<\/li>\n<li><strong>Laboratory tests:<\/strong> tests for the presence of tumor cells in the urine, as well as biochemical blood tests.<\/li>\n<li><strong>Radiological examinations:<\/strong> Ultrasound of abdominal organs, CT and MRI to visualize the tumor.<\/li>\n<li><strong>Other types of diagnostics:<\/strong> biopsy to confirm the presence of malignant cells.<\/li>\n<li><strong>Differential diagnosis:<\/strong> The disease in question must be differentiated from other types of kidney tumors and benign formations.<\/li>\n<\/ul>\n<h2><span class=\"ez-toc-section\" id=\"%D0%9B%D0%B5%D1%87%D0%B5%D0%BD%D0%B8%D0%B5\"><\/span>Treatment<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>Treatment of Wilms tumor includes several stages:<\/p>\n<ul>\n<li><strong>General treatment:<\/strong> consists of a comprehensive approach, including surgery, chemotherapy and radiotherapy.<\/li>\n<li><strong>Pharmacological treatment:<\/strong> often involves the use of anthracyclines, resistant to adjuvant therapy, which improves the likelihood of survival.<\/li>\n<li><strong>Surgical treatment:<\/strong> in most cases requires partial or total nephrectomy.<\/li>\n<li><strong>Other types of treatment:<\/strong> Immunotherapy and targeted therapy are considered depending on the stage of the disease and the type of tumor.<\/li>\n<\/ul>\n<h2><span class=\"ez-toc-section\" id=\"%D0%A1%D0%BF%D0%B8%D1%81%D0%BE%D0%BA_%D0%BB%D0%B5%D0%BA%D0%B0%D1%80%D1%81%D1%82%D0%B2_%D0%BF%D1%80%D0%B8%D0%BC%D0%B5%D0%BD%D1%8F%D0%B5%D0%BC%D1%8B%D1%85_%D0%B4%D0%BB%D1%8F_%D0%BB%D0%B5%D1%87%D0%B5%D0%BD%D0%B8%D1%8F_%D0%B4%D0%B0%D0%BD%D0%BD%D0%BE%D0%B3%D0%BE_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F\"><\/span>List of medications used to treat this disease<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>There are several groups of drugs used in the treatment of Wilms tumor:<\/p>\n<ul>\n<li>Doxorubicin<\/li>\n<li>etoposide<\/li>\n<li>Cyclophosphamide<\/li>\n<li>Vincristine<\/li>\n<li>Ifosfamide<\/li>\n<\/ul>\n<h2><span class=\"ez-toc-section\" id=\"%D0%9C%D0%BE%D0%BD%D0%B8%D1%82%D0%BE%D1%80%D0%B8%D0%BD%D0%B3_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F\"><\/span>Disease monitoring<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>The prognosis for Wilms tumor depends greatly on the stage of the disease at diagnosis. The main control stages include regular check-ups, the use of radiological methods for monitoring, and laboratory tests. It is important to note that the early stage gives a chance for a full recovery, while the late stage significantly worsens the prognosis and can lead to serious complications, such as metastasis to other organs.<\/p><script data-noptimize=\"\" data-wpfc-render=\"false\">\nfpm_start( \"true\" );\n<\/script>\n\n<h2><span class=\"ez-toc-section\" id=\"%D0%92%D0%BE%D0%B7%D1%80%D0%B0%D1%81%D1%82%D0%BD%D1%8B%D0%B5_%D0%BE%D1%81%D0%BE%D0%B1%D0%B5%D0%BD%D0%BD%D0%BE%D1%81%D1%82%D0%B8_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F\"><\/span>Age-related features of the disease<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>Wilms&#039; tumor is most common in children under 5 years of age, but it can also develop in adolescents and even adults, although this is extremely rare. In younger age, the tumor in most cases manifests itself by a rapid increase in size, while in older age it can have a more blurred course. In children who have had the disease, it is important to conduct long-term monitoring, since the risk of relapse may remain.<\/p>\n<h2><span class=\"ez-toc-section\" id=\"%D0%92%D0%BE%D0%BF%D1%80%D0%BE%D1%81%D1%8B_%D0%B8_%D0%BE%D1%82%D0%B2%D0%B5%D1%82%D1%8B\"><\/span>Questions and Answers<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<ul>\n<li><strong>What are the main symptoms of Wilms tumor?<\/strong> The main symptoms are abdominal distension, cramping, blood in the urine and weight loss.<\/li>\n<li><strong>How is Wilms tumor diagnosed?<\/strong> Diagnostics include ultrasound, CT scan, urine and blood tests, and biopsy.<\/li>\n<li><strong>What are the risk factors for developing Wilms tumor?<\/strong> The main risk factors are heredity, environmental factors and abnormalities in the development of the genitourinary system.<\/li>\n<li><strong>What is the treatment for Wilms tumor?<\/strong> Treatment includes chemotherapy, surgery, and possibly radiation therapy.<\/li>\n<li><strong>What is the prognosis for Wilms tumor?<\/strong> The prognosis depends on the stage at which the diagnosis occurs and can be favorable with early treatment.<\/li>\n<\/ul>\n<div class=\"fpm_end\"><\/div>","protected":false},"excerpt":{"rendered":"<p>Wilms tumor syndromes (Wilms syndrome) are rare malignant neoplasms of the kidneys, characterized by the formation of a tumor against the background of various genetic disorders. This<\/p>","protected":false},"author":1,"featured_media":24152,"comment_status":"open","ping_status":"","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[298],"tags":[],"class_list":["post-13413","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-medlibrary"],"_links":{"self":[{"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/posts\/13413","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/comments?post=13413"}],"version-history":[{"count":1,"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/posts\/13413\/revisions"}],"predecessor-version":[{"id":13504,"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/posts\/13413\/revisions\/13504"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/media\/24152"}],"wp:attachment":[{"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/media?parent=13413"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/categories?post=13413"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/tags?post=13413"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}