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Central nervous system atypical teratoid/rhabdoid tumor without loss of nuclear expression of INI1
- Source :
- Arkhiv patologii. 81:36
- Publication Year :
- 2019
- Publisher :
- Media Sphere Publishing Group, 2019.
-
Abstract
- 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.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.
- Subjects :
- 0301 basic medicine
Pathology
medicine.medical_specialty
Chromosomal Proteins, Non-Histone
Central nervous system
Routine practice
Pathology and Forensic Medicine
Central Nervous System Neoplasms
03 medical and health sciences
0302 clinical medicine
Humans
Medicine
Child
Rhabdoid Tumor
SMARCA4 Gene
business.industry
DNA Helicases
Infant
Nuclear Proteins
SMARCB1 Protein
medicine.disease
030104 developmental biology
medicine.anatomical_structure
030220 oncology & carcinogenesis
Atypical teratoid rhabdoid tumor
DNA methylation
Immunohistochemistry
Female
Clinical case
business
Transcription Factors
Subjects
Details
- ISSN :
- 00041955
- Volume :
- 81
- Database :
- OpenAIRE
- Journal :
- Arkhiv patologii
- Accession number :
- edsair.doi.dedup.....0ea9c5a6a25d4578f3224b2275d75408