scholarly journals Optical genome mapping identifies a germline retrotransposon insertion in SMARCB1 in two siblings with atypical teratoid rhabdoid tumors

2021 ◽  
Author(s):  
Mariangela Sabatella ◽  
Tuomo Mantere ◽  
Esmé Waanders ◽  
Kornelia Neveling ◽  
Arjen R. Mensenkamp ◽  
...  
Keyword(s):  
Genome Mapping ◽  
Retrotransposon Insertion ◽  
Atypical Teratoid ◽  
Atypical Teratoid Rhabdoid Tumors ◽  
Rhabdoid Tumors

Comparative integrative analysis of primary and relapsed atypical teratoid/rhabdoid tumors (AT/RTs)

2018 ◽  
Author(s):  
T Holsten ◽  
M Alawi ◽  
M Spohn ◽  
M Hasselblatt ◽  
C Habeler ◽  
...  
Keyword(s):  
Integrative Analysis ◽  
Atypical Teratoid ◽  
Atypical Teratoid Rhabdoid Tumors ◽  
Rhabdoid Tumors

scholarly journals ATRT-04. LATE DEVELOPMENT OF METACHRONOUS ATYPICAL TERATOID/RHABDOID TUMORS (AT/RTS) OR MALIGNANT RHABDOID TUMOR (MRT) IN THREE PATIENTS WITH GERMLINE SMARCB1 MUTATIONS

2018 ◽  
Vol 20 (suppl_2) ◽  
pp. i27-i28 ◽  
Author(s):  
Anne Bendel ◽  
Helen Toledano ◽  
Ian Cohen ◽  
Susan Chi ◽  
Jaclyn Biegel
Keyword(s):  
Rhabdoid Tumor ◽  
Malignant Rhabdoid Tumor ◽  
Late Development ◽  
Atypical Teratoid ◽  
Atypical Teratoid Rhabdoid Tumors ◽  
Rhabdoid Tumors

scholarly journals ATRT-05. RESULTS OF MULTICENTER TRIAL CONCERNING THE TREATMENT OF CHILDREN WITH ATYPICAL TERATOID/RHABDOID TUMORS (ATRT) OF THE CENTRAL NERVOUS SYSTEM

2020 ◽  
Vol 22 (Supplement_3) ◽  
pp. iii276-iii276
Author(s):  
Olga Zheludkova ◽  
Lyudmila Olkhova ◽  
Yuri Kushel’ ◽  
Armen Melikyan ◽  
Marina Ryzhova ◽  
...  
Keyword(s):  
Spinal Cord ◽  
Progression Free Survival ◽  
Multicenter Trial ◽  
Intrathecal Methotrexate ◽  
Subtotal Resection ◽  
Tumor Biopsy ◽  
Atypical Teratoid ◽  
The Central Nervous System ◽  
Atypical Teratoid Rhabdoid Tumors ◽  
Rhabdoid Tumors

Abstract We analyzed 105 patients under 18 years. The median age was 21 months. There were 54 boys and 51 girls. The supratentorial tumors were in 53 patients, infratentorial in 48, and in spinal cord in 4. 60 had stage M0,29-М+and 16-Mx. All the patients got surgical treatment:total tumor removal in 34,subtotal in 37,partial in 30,and biopsy in 4;75 patients got chemoradiotherapy to ATRT-2006;6-CWS;13-EU-RHAB;5-HIT-SKK;individual schemes in 6. RESULTS: 47 are alive,1 was LFU, and 57 died. PFS was 32%±0.05; the five-year OS 40%±0.05. The median survival-30 months, the median progression-free survival-12 months, and the median of follow-up-23 months. PFS was significantly better in patients more than 12 months compared to patients younger than 12 months:40 and 12%;p=0.00161.After total resection PFS was higher compared to subtotal resection, partial resection, and tumor biopsy:48,38,0,and 0%(p=0.025). After chemoradiotherapy, PFS was higher compared to patients without radiotherapy: 49and 0%(р=0.0000000).PFS for stage M0 was higher compared to stage M+and stage Mx:41,15,and 27%,respectively(р=0.00032).PFS was better for the tumors in the spinal cord and infratentorial location compared to the supratentorial location:67,37,and 25%(p=0.0876).The survival rate was higher among the patients who got treatment according to the ATRT-2006 protocol compared to EU-RHAB, individual regimens, CWS, and HIT-SKK:39,19,17,17,and 0% respectively;p=0.00159.The survival was higher among the patients who got intraventricular/intrathecal Methotrexate,Cytarabine, Prednisolone than among the patients who got only Methotrexate or none at all:40,0,and 5%, respectively; p=0.00015. CONCLUSIONS: Survival was significantly better in patients more than 12month, without metastases, with total removal tumor, chemotheradiotherapy by ATRT-2006 protocol with i/t, i/v Methotrexate/Cytarabine/Prednisolone.

scholarly journals Histomorphology Evolution of Recurrent Atypical Teratoid/Rhabdoid Tumors

2015 ◽  
Vol 144 (suppl 2) ◽  
pp. A023-A023
Author(s):  
Esther Yoon ◽  
Taliya Farooq ◽  
Lawrence Sann ◽  
Eric Vail ◽  
George Kleinman
Keyword(s):  
Atypical Teratoid ◽  
Atypical Teratoid Rhabdoid Tumors ◽  
Rhabdoid Tumors

scholarly journals ATRT-26. META-ANALYSIS OF TREATMENT MODALITIES IN METASTATIC ATYPICAL TERATOID/RHABDOID TUMORS IN CHILDREN

2020 ◽  
Vol 22 (Supplement_3) ◽  
pp. iii281-iii281
Author(s):  
Reena M Underiner ◽  
Mostafa Eltobgy ◽  
Joseph R Stanek ◽  
Jonathan L Finlay ◽  
Mohamed S AbdelBaki
Keyword(s):  
Surgical Resection ◽  
Meta Analysis ◽  
Univariate Analysis ◽  
Multivariable Analysis ◽  
Substantial Effect ◽  
Treatment Modalities ◽  
Risk Of Death ◽  
Atypical Teratoid ◽  
Atypical Teratoid Rhabdoid Tumors ◽  
Rhabdoid Tumors

Abstract BACKGROUND Metastatic atypical teratoid/rhabdoid tumors (AT/RT) are aggressive central nervous system tumors that present during infancy and are associated with dismal outcomes. Patients receive multimodal treatment including surgical resection, systemic chemotherapy and one or more of intrathecal chemotherapy (IT), marrow-ablative chemotherapy with autologous hematopoietic cell rescue (AuHCR) and radiation therapy (XRT). While data regarding treatment modalities for AT/RT patients exist, no comprehensive data have been published regarding the metastatic patient population. METHODS We performed a meta-analysis of 1,578 articles published through September 2018, including 44 studies with a total of 123 subjects. Additionally, seven patients were incorporated through chart review of patients treated at Nationwide Children’s Hospital. RESULTS Analysis of 130 patients revealed a 3-year overall survival (OS) of 25%. Age at diagnosis had a significant impact on survival (p=0.0355); 3-year OS for infants < 18 months was 21%; 18–36 months was 26%; and > 36 months was 36%. Location of the primary tumor, metastatic stage and extent of surgical resection did not have significant impact on OS. On univariate analysis, XRT (p<0.0001), IT (p=0.01) and AuHCR (p<0.0001) were found to significantly improve survival. The most substantial effect was noted in patients who received AuHCR (3-year OS of 60% versus 9% in those who did not). On multivariable analysis XRT (p=0.0006), IT (p=0.0124) and AuHCR (p<0.0001) were independently associated with reduced risk of death.

scholarly journals AT-18INVESTIGATING THE BIOLOGY OF ATYPICAL TERATOID/RHABDOID TUMORS BY WHOLE GENOME CRISPR/CAS9 SCREENING

2016 ◽  
Vol 18 (suppl 3) ◽  
pp. iii5.2-iii5
Author(s):  
Matthew P. Selby ◽  
Martina A. Finetti ◽  
Matthew Bashton ◽  
Ruth E. Cranston ◽  
Alicia Del-Carpio-Pons ◽  
...  
Keyword(s):  
Whole Genome ◽  
Atypical Teratoid ◽  
Atypical Teratoid Rhabdoid Tumors ◽  
Rhabdoid Tumors

scholarly journals AT-14mTOR INHIBITION BLOCKS A KEY LIN28 DOWNSTREAM TARGET AND ENHANCES CISPLATIN MEDIATED CYTOTOXICITY LEADING TO EXTENDED SURVIVAL IN ATYPICAL TERATOID RHABDOID TUMORS

2016 ◽  
Vol 18 (suppl 3) ◽  
pp. iii4.2-iii4
Author(s):  
Jeffrey Rubens ◽  
Antoinette Price ◽  
Charles Eberhart ◽  
Eric Raabe
Keyword(s):  
Downstream Target ◽  
Atypical Teratoid ◽  
Atypical Teratoid Rhabdoid Tumors ◽  
Rhabdoid Tumors ◽  
Extended Survival

Atypical Teratoid / Rhabdoid Tumors – AT/RT

2020 ◽  
pp. 286-298
Author(s):  
Michael C. Frühwald ◽  
Jaclyn A. Biegel ◽  
Susan N. Chi
Keyword(s):  
Atypical Teratoid ◽  
Atypical Teratoid Rhabdoid Tumors ◽  
Rhabdoid Tumors

scholarly journals Investigation of Demographic, Clinical, Pathological Features and HSNF5 (SMARCB1)/INI1 Gene Mutations in Patients Diagnosed as Atypical Teratoid Rhabdoid Tumors

2020 ◽  
Vol 29 (3) ◽  
pp. 139-147
Author(s):  
Elif KIYMET ◽  
Tahir ATİK ◽  
Esra IŞIK ◽  
Bilçağ AKGÜN ◽  
Nazan ÇETİNGÜL ◽  
...  
Keyword(s):  
Gene Mutations ◽  
Pathological Features ◽  
Atypical Teratoid ◽  
Atypical Teratoid Rhabdoid Tumors ◽  
Rhabdoid Tumors
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