دورية أكاديمية
[Central nervous system atypical teratoid/rhabdoid tumor without loss of nuclear expression of INI1].
| العنوان: | [Central nervous system atypical teratoid/rhabdoid tumor without loss of nuclear expression of INI1]. |
|---|---|
| عنوان ترانسليتريتد: | Atipicheskaia teratoidno-rabdoidnaia opukhol' TsNS bez poteri iadernoĭ ékspressii INI1. |
| المؤلفون: | Ryzhova MV; Acad. N.N. Burdenko National Medical Research Center of Neurosurgery, Ministry of Health of Russia, Moscow, Russia., Kadyrov SU; Acad. N.N. Burdenko National Medical Research Center of Neurosurgery, Ministry of Health of Russia, Moscow, Russia., Kumirova EV; Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Ministry of Health of Russia, Moscow, Russia., Shishkina LV; Acad. N.N. Burdenko National Medical Research Center of Neurosurgery, Ministry of Health of Russia, Moscow, Russia., Nikitin PV; Acad. N.N. Burdenko National Medical Research Center of Neurosurgery, Ministry of Health of Russia, Moscow, Russia., Panina TN; Acad. N.N. Burdenko National Medical Research Center of Neurosurgery, Ministry of Health of Russia, Moscow, Russia., Shibaeva IV; Acad. N.N. Burdenko National Medical Research Center of Neurosurgery, Ministry of Health of Russia, Moscow, Russia., Shugay SV; Acad. N.N. Burdenko National Medical Research Center of Neurosurgery, Ministry of Health of Russia, Moscow, Russia., Starovoytov DV; Acad. N.N. Burdenko National Medical Research Center of Neurosurgery, Ministry of Health of Russia, Moscow, Russia., Sycheva RV; Acad. N.N. Burdenko National Medical Research Center of Neurosurgery, Ministry of Health of Russia, Moscow, Russia., Zubova IV; Acad. N.N. Burdenko National Medical Research Center of Neurosurgery, Ministry of Health of Russia, Moscow, Russia. |
| المصدر: | Arkhiv patologii [Arkh Patol] 2019; Vol. 81 (2), pp. 36-42. |
| نوع المنشور: | Case Reports; Journal Article |
| اللغة: | Russian |
| بيانات الدورية: | Publisher: Media Sfera Country of Publication: Russia (Federation) NLM ID: 0370604 Publication Model: Print Cited Medium: Print ISSN: 0004-1955 (Print) Linking ISSN: 00041955 NLM ISO Abbreviation: Arkh Patol |
| أسماء مطبوعة: | Publication: Moskva : Media Sfera Original Publication: Moskva : Medicina |
| مواضيع طبية MeSH: | Central Nervous System Neoplasms*/diagnosis , Central Nervous System Neoplasms*/genetics , Rhabdoid Tumor*/diagnosis , Rhabdoid Tumor*/genetics , SMARCB1 Protein*/metabolism, Child ; Chromosomal Proteins, Non-Histone ; DNA Helicases/metabolism ; Female ; Humans ; Infant ; Nuclear Proteins/metabolism ; Transcription Factors/metabolism |
| مستخلص: | The paper describes a clinical case of atypical teratoid/rhabdoid tumor with preserved INI1 expression and SMARCA4 gene mutations in an 8-month-old girl. Genome-wide DNA methylation, hierarchical clustering, and next-generation sequencing were used to make a tumor diagnosis. However, BRG1 immunohistochemical examination may be recommended in the routine practice of diagnosis and study of childhood CNS malignant tumors. |
| فهرسة مساهمة: | Keywords: INI1 and BRG1; SMARCB1 and SMARCA4 gene mutations; atypical teratoid/rhabdoid tumor Local Abstract: [Publisher, Russian] Представлено клиническое наблюдение атипической тератоидно-рабдоидной опухоли с сохранной экспрессией INI1 и мутациями гена SMARCA4 у 8-месячной девочки. Для диагностики опухоли использовали методы выявления структуры метилирования ДНК на уровне генома, иерархическое кластерирование и секвенирование нового поколения. Однако в рутинной практике диагностики и исследования детских злокачественных опухолей ЦНС может быть рекомендовано иммуногистохимическое исследование с BRG1. |
| المشرفين على المادة: | 0 (Chromosomal Proteins, Non-Histone) 0 (Nuclear Proteins) 0 (SMARCB1 Protein) 0 (SMARCB1 protein, human) 0 (Transcription Factors) EC 3.6.1.- (SMARCA4 protein, human) EC 3.6.4.- (DNA Helicases) |
| تواريخ الأحداث: | Date Created: 20190423 Date Completed: 20190807 Latest Revision: 20190807 |
| رمز التحديث: | 20221213 |
| DOI: | 10.17116/patol20198102136 |
| PMID: | 31006778 |
| قاعدة البيانات: | MEDLINE |
| تدمد: | 0004-1955 |
|---|---|
| DOI: | 10.17116/patol20198102136 |