EU-RHAB Register

Rhabdoid tumours are rare, highly aggressive and often unfavourable tumour diseases that occur primarily in infants and small children. Due to their rarity, there is little reliable data in the medical literature on frequency, causes and promising standardised treatment approaches. Most published studies consist of small case series or a summary of case reports. Genetics The group of rhabdoid tumours (irrespective of the anatomical location) have a change in the SMARCB1 gene (hSNF5/INI1) on chromosome 22 in common. To detect this alteration, both immunohistochemical examinations of the tumour tissue and genetic examinations of tumour and blood cells of the affected patients are carried out. In rarer cases, a germline mutation can be detected. Genetic testing of the parents and possibly other family members is then advisable. Frequency According to our own survey, around 30-40 children in Germany are diagnosed with rhabdoid tumours every year. Similar figures are recorded in other comparable European countries. At a consensus conference of European representatives of the SIOP Brain Tumour Committee and Italian and German representatives of the soft tissue sarcoma and nephroblastoma groups in Genoa in January 2007, it was decided to create a joint rhabdoid tumour register. The aim of the European Rhabdoid Tumour Registry is to collect complete clinical, molecular genetic and therapy-related data on all patients with rhabdoid tumours of the brain (AT/RT), kidneys (RTK - rhabdoid tumour kidney) and soft tissue (MRT - malignant rhabdoid tumour) in Europe.

{ "short_title": "EU-RHAB Register", "data_mode": "900", "data_mode_number": "000002454", "official_title": "Rhabdoide Tumoren jeglicher anatomischen Lokalisation", "accrual_state": "stoppedTemporarily", "therapeutic_value": null, "therapieansatz_value": null, "therapieintervention_value": null, "therapielinie_value": null, "ctgov_number": null, "eudract_number": null, "general_contact_email": "Kik-dokuteam-hs65@ukdd.de", "general_contact_phone": "+49 351-4585035", "hauptpruefer_dd_name": "Prof. Dr. med. Ralf Kn\u00f6fler", "description_laie_de": "Rhabdoide Tumoren sind seltene, hoch aggressive und h\u00e4ufig ung\u00fcnstig verlaufende Tumorerkrankungen, die vor allem bei S\u00e4uglingen und Kleinkindern auftreten. Auf Grund ihrer Seltenheit gibt es in der medizinischen Fachliteratur wenig verl\u00e4ssliche Daten zu H\u00e4ufigkeit, Ursachen und Erfolg versprechender einheitlicher Behandlungsans\u00e4tze. Die meisten ver\u00f6ffentlichten Untersuchungen bestehen aus kleinen Fallserien oder einer Zusammenfassung von Fallberichten.\r\n\r\nGenetik\r\n\r\nDer Gruppe von Rhabdoid-Tumoren (unabh\u00e4ngig von der anatomischen Lokalisation) ist eine Ver\u00e4nderung des SMARCB1-Gens (hSNF5/INI1) auf Chromosom 22 gemeinsam. Um diese Ver\u00e4nderung nachzuweisen, werden sowohl immunhistochemische Untersuchungen des Tumorgewebes als auch genetische Untersuchungen von Tumor- und Blutzellen der betroffenen Patienten durchgef\u00fchrt. In selteneren F\u00e4llen kann eine Keimbahnmutation nachgewiesen werden. Dann ist eine genetische Untersuchung der Eltern und unter Umst\u00e4nden weiterer Familienmitglieder anzuraten.\r\n\r\nH\u00e4ufigkeit\r\n\r\nNach einer eigenen Erhebung erkranken in Deutschland pro Jahr ca. 30-40 Kinder an Rhabdoidtumoren. \u00c4hnliche Zahlen werden in anderen vergleichbaren europ\u00e4ischen L\u00e4ndern erhoben. In einer Konsensuskonferenz von europ\u00e4ischen Vertretern des SIOP Brain Tumor Committee sowie italienischen und deutschen Vertretern der Weichteilsarkom- und Nephroblastomgruppen in Genua im Januar 2007 wurde entschieden, ein gemeinsames Rhabdoidtumor-Register zu schaffen.\r\n\r\nZielsetzung des Europ\u00e4ischen Rhabdoidregisters ist eine komplette Erfassung von klinischen, molekulargenetischen und therapiebezogenen Daten aller Patienten mit rhabdoiden Tumoren des Gehirns (AT/RT), der Nieren (RTK \u2013 rhabdoid tumor kidney) und der Weichgewebe (MRT \u2013 malignant rhabdoid tumor) in Europa.", "description_laie_en": null, "description_expert_de": null, "description_expert_en": "Rhabdoid tumours are rare, highly aggressive and often unfavourable tumour diseases that occur primarily in infants and small children. Due to their rarity, there is little reliable data in the medical literature on frequency, causes and promising standardised treatment approaches. Most published studies consist of small case series or a summary of case reports.\r\n\r\nGenetics\r\n\r\nThe group of rhabdoid tumours (irrespective of the anatomical location) have a change in the SMARCB1 gene (hSNF5/INI1) on chromosome 22 in common. To detect this alteration, both immunohistochemical examinations of the tumour tissue and genetic examinations of tumour and blood cells of the affected patients are carried out. In rarer cases, a germline mutation can be detected. Genetic testing of the parents and possibly other family members is then advisable.\r\n\r\nFrequency\r\n\r\nAccording to our own survey, around 30-40 children in Germany are diagnosed with rhabdoid tumours every year. Similar figures are recorded in other comparable European countries. At a consensus conference of European representatives of the SIOP Brain Tumour Committee and Italian and German representatives of the soft tissue sarcoma and nephroblastoma groups in Genoa in January 2007, it was decided to create a joint rhabdoid tumour register.\r\nThe aim of the European Rhabdoid Tumour Registry is to collect complete clinical, molecular genetic and therapy-related data on all patients with rhabdoid tumours of the brain (AT/RT), kidneys (RTK - rhabdoid tumour kidney) and soft tissue (MRT - malignant rhabdoid tumour) in Europe.", "rechtsgrundlage_value": "BO", "phase_amg_value": null, "main_cat_id": 14, "sub_cat_id": 63 }

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