| Title: |
ATRT-05. AGE ABOVE 12 MONTHS, ABSENCE OF SYNCHRONOUS, MULTIFOCAL DISEASE AND PATHOGENIC GERMLINE VARIANTS AT C-TERMINI ARE POSITIVE PROGNOSTIC FACTORS IN CHILDREN WITH RTPS1 (RHABDOID-TUMOR-PREDISPOSITION-SYNDROME) |
| Authors: |
Fruehwald, Michael C; Boros, Matej; Dahlum, Sonja; Bens, Susanne; Johann, Pascal D; Kachanov, Denis; Hauser, Peter; Kratz, Christian P; Hernaiz-Driever, Pablo; Eyrich, Matthias; Sumerauer, David; Milde, Till; Reinhard, Harald; van de Wetering, Marianne; Gil-da-Costa, Maria Joao; Elisabetta, Schiavello; Kerl, Kornelius; Furtwaengler, Rhoikos; Kordes, Uwe; Gerss, Joachim; Hasselblatt, Martin; Nysom, Karsten; Nemes, Karolina |
| Source: |
Neuro-Oncology ; volume 26, issue Supplement_4, page 0-0 ; ISSN 1522-8517 1523-5866 |
| Publisher Information: |
Oxford University Press (OUP) |
| Publication Year: |
2024 |
| Description: |
BACKGROUND Rhabdoid-Tumor-Predisposition-Syndrome is due to germline mutations in SMARCB1 (rarely SMARCA4). We pursued a comprehensive clinical and (epi-)genetic characterization of RTPS families. METHODS 90 affected children from 16 countries were compared to 252 with sporadic rhabdoid tumors (01/2004 - 01/2021). Tumors and blood were examined for structural or single nucleotide variants (SV, SNV) in SMARCB1/SMARCA4. In 83% (70/84) of RTPS1-patients complete genetic data were available. Trio-exome (n=25) and 850k-methylation analysis of tumors (52/84) and blood (n=51), parents (n=44) and unaffected siblings (n=4) was performed. RESULTS RTPS1 and 2 were diagnosed in 84 (48 females, 36 males) and 6 patients respectively. Median age at diagnosis (RTPS1 only) was 5 (0 – 203) months (18 months, 0-211 in controls, p |
| Document Type: |
article in journal/newspaper |
| Language: |
English |
| DOI: |
10.1093/neuonc/noae064.005 |
| Availability: |
http://dx.doi.org/10.1093/neuonc/noae064.005; https://academic.oup.com/neuro-oncology/article-pdf/26/Supplement_4/0/58252360/noae064.005.pdf |
| Rights: |
https://creativecommons.org/licenses/by-nc/4.0/ |
| Accession Number: |
edsbas.819B3EA7 |
| Database: |
BASE |