scholarly journals Atypical teratoid/rhabdoid tumor: A rare case report

2017 ◽  
Vol 5 (3) ◽  
pp. 70-72
Author(s):  
R Shrestha ◽  
S Gauchan ◽  
A K Jha
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Rare Case ◽  
Primitive Neuroectodermal Tumor ◽  
Atypical Teratoid Rhabdoid Tumor ◽  
Embryonal Tumor ◽  
Rare Case Report ◽  
Atypical Teratoid ◽  
Atypical Teratoid Rhabdoid Tumors ◽  
Rhabdoid Tumors

Atypical Teratoid/Rhabdoid Tumors (AT/RTs) is rare, highly malignant embryonal tumor of central nervous system that predominantly occurs in infancy and young children. The majority of tumors arise (approximately two-third) in the posterior fossa. The diagnosis of AT/RTs relies predominantly on morphologic and immunohistochemical criteria. The most common differential diagnosis are Primitive Neuroectodermal Tumor and malignant glioma. Herein we present a case of 5 year old child who initially presented with headache and vomiting.

scholarly journals Atypical teratoid/rhabdoid tumors of the central nervous system in children: the state of the problem today. Literature review

2019 ◽  
Vol 5 (4) ◽  
pp. 60-73 ◽  
Author(s):  
Yu. V. Dinikina ◽  
M. B. Belogurova
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Conflict Of Interest ◽  
Malignant Tumors ◽  
Young Patients ◽  
Genetic Profile ◽  
Atypical Teratoid ◽  
The Central Nervous System ◽  
Atypical Teratoid Rhabdoid Tumors ◽  
Rhabdoid Tumors

Atypical teratoid/rhabdoid tumors (AT/RT) are a group of rare highly aggressive malignant tumors in young patients. Among all the malignant tumors of the central nervous system (CNS) in children, they are 1–2 %, which, due to the small number of groups, makes it difficult to develop uniform recommendations for antitumor therapy. The molecular genetic profile of AT/RT, which largely determines the characteristics of the disease, has been studied sufficiently. Despite the large number of ongoing clinical studies, the results of treatment of AT/RT CNS in the world today remain unsatisfactory. The early age of patients limits the use of radiation therapy, which leads to the need to intensify chemotherapy regimens and to choose the optimal strategy in the toxicity – benefit ratio. The article describes modern approaches to the treatment of central nervous system disorders in children, presents the results of studies with the largest number of included patients, using the multimodal treatment strategy, identifies current trends in targeted therapy.Conflict of interest. The authors declare no conflict of interest.Funding. The study was performed without external funding.

CT and MR imaging in atypical teratoid/rhabdoid tumors of the central nervous system

2008 ◽  
Vol 50 (5) ◽  
pp. 447-452 ◽  
Author(s):  
Monika Warmuth-Metz ◽  
Brigitte Bison ◽  
Elke Dannemann-Stern ◽  
Rolf Kortmann ◽  
Stefan Rutkowski ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Mr Imaging ◽  
Atypical Teratoid ◽  
The Central Nervous System ◽  
Atypical Teratoid Rhabdoid Tumors ◽  
Rhabdoid Tumors

Loss of BRG1 (SMARCA4) Immunoexpression in a Pediatric Non-Central Nervous System Tumor Cohort

2019 ◽  
Vol 23 (2) ◽  
pp. 132-138
Author(s):  
Jessica Saunders ◽  
Katrina Ingley ◽  
Xiu Qing Wang ◽  
Melissa Harvey ◽  
Linlea Armstrong ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Soft Tissue Sarcomas ◽  
Central Nervous System Tumor ◽  
Complex Protein ◽  
Atypical Teratoid ◽  
The Central Nervous System ◽  
System Tumor ◽  
Atypical Teratoid Rhabdoid Tumors ◽  
Rhabdoid Tumors

Malignant rhabdoid tumors and atypical teratoid/rhabdoid tumors of the central nervous system are primitive malignancies associated with a poor prognosis. These tumors have previously been characterized by inactivation of the switch/sucrose nonfermenting (SWI/SNF) chromatin remodeling complex protein integrase interactor 1 (INI1), encoded by the SMARCB1 gene. In the last decade, sporadic publications have shown that a different SWI/SNF protein, brahma-related gene 1 (BRG1), encoded by the SMARCA4 gene, is associated with a similar rhabdoid phenotype and possible germline mutation termed rhabdoid tumor predisposition syndrome type 2. We sought to determine the presence of BRG1 expression in pediatric embryonal tumors. Using a local tissue microarray consisting of 28 tumors diagnosed as having an undifferentiated, polyphenotypic, or rhabdoid morphology, expression of BRG1 by immunohistochemistry was performed. Four cases showed loss of INI1, while 3 of the remaining 24 cases demonstrated loss of BRG1. Two cases were diagnosed as soft tissue sarcomas, and 1 case was diagnosed as a small cell carcinoma of the ovary, hypercalcemic type. Survival ranged from less than 6 months after diagnosis to more than 5 years at the time of last follow-up. In conclusion, we demonstrate that BRG1 immunohistochemistry is a useful second-line immunostain for the workup of undifferentiated, polyphenotypic or rhabdoid pediatric tumors that demonstrate retained expression of INI1.

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