Kolodziejczak, Anna S. and Guerrini-Rousseau, Lea and Planchon, Julien Masliah and Ecker, Jonas and Selt, Florian and Mynarek, Martin and Obrecht, Denise and Sill, Martin and Autry, Robert J. and Stutheit-Zhao, Eric and Hirsch, Steffen and Amouyal, Elsa and Dufour, Christelle and Ayrault, Olivier and Torrejon, Jacob and Waszak, Sebastian M. and Ramaswamy, Vijay and Pentikainen, Virve and Demir, Haci Ahmet and Clifford, Steven C. and Schwalbe, Ed C. and Massimi, Luca and Snuderl, Matija and Galbraith, Kristyn and Karajannis, Matthias A. and Hill, Katherine and Li, Bryan K. and Walsh, Mike and White, Christine L. and Redmond, Shelagh and Loizos, Loizou and Jakob, Marcus and Kordes, Uwe R. and Schmid, Irene and Hauer, Julia and Blattmann, Claudia and Filippidou, Maria and Piccolo, Gianluca and Scheurlen, Wolfram and Farrag, Ahmed and Grund, Kerstin and Sutter, Christian and Pietsch, Torsten and Frank, Stephan and Schewe, Denis M. and Malkin, David and Ben-Arush, Myriam and Sehested, Astrid and Wong, Tai-Tong and Wu, Kuo-Sheng and Liu, Yen-Lin and Carceller, Fernando and Mueller, Sabine and Stoller, Schuyler and Taylor, Michael D. and Tabori, Uri and Bouffet, Eric and Kool, Marcel and Sahm, Felix and von Deimling, Andreas and Korshunov, Andrey and von Hoff, Katja and Kratz, Christian P. and Sturm, Dominik and Jones, David T. W. and Rutkowski, Stefan and van Tilburg, Cornelis M. and Witt, Olaf and Bougeard, Gaelle and Pajtler, Kristian W. and Pfister, Stefan M. and Bourdeaut, Franck and Milde, Till (2023) Clinical outcome of pediatric medulloblastoma patients with Li-Fraumeni syndrome. OXFORD UNIV PRESS INC, CARY.
Full text not available from this repository. (Request a copy)Abstract
Background The prognosis for Li-Fraumeni syndrome (LFS) patients with medulloblastoma (MB) is poor. Comprehensive clinical data for this patient group is lacking, challenging the development of novel therapeutic strategies. Here, we present clinical and molecular data on a retrospective cohort of pediatric LFS MB patients. Methods In this multinational, multicenter retrospective cohort study, LFS patients under 21 years with MB and class 5 or class 4 constitutional TP53 variants were included. TP53 mutation status, methylation subgroup, treatment, progression free- (PFS) and overall survival (OS), recurrence patterns, and incidence of subsequent neoplasms were evaluated. Results The study evaluated 47 LFS individuals diagnosed with MB, mainly classified as DNA methylation subgroup "SHH_3" (86%). The majority (74%) of constitutional TP53 variants represented missense variants. The 2- and 5-year (y-) PFS were 36% and 20%, and 2- and 5y-OS were 53% and 23%, respectively. Patients who received postoperative radiotherapy (RT) (2y-PFS: 44%, 2y-OS: 60%) or chemotherapy before RT (2y-PFS: 32%, 2y-OS: 48%) had significantly better clinical outcome then patients who were not treated with RT (2y-PFS: 0%, 2y-OS: 25%). Patients treated according to protocols including high-intensity chemotherapy and patients who received only maintenance-type chemotherapy showed similar outcomes (2y-PFS: 42% and 35%, 2y-OS: 68% and 53%, respectively). Conclusions LFS MB patients have a dismal prognosis. In the presented cohort use of RT significantly increased survival rates, whereas chemotherapy intensity did not influence their clinical outcome. Prospective collection of clinical data and development of novel treatments are required to improve the outcome of LFS MB patients.
| Item Type: | Other |
|---|---|
| Uncontrolled Keywords: | CENTRAL-NERVOUS-SYSTEM; TP53 MUTATION; CHILDHOOD MEDULLOBLASTOMA; MOLECULAR SUBGROUPS; CLASSIFICATION; RISK; RECOMMENDATIONS; RADIOTHERAPY; THERAPY; TUMORS; Li-Fraumeni syndrome; medulloblastoma; survival; TP53 |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Abteilung für Pädiatrische Hämatologie, Onkologie und Stammzelltransplantation |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 07 May 2024 09:08 |
| Last Modified: | 07 May 2024 09:08 |
| URI: | https://pred.uni-regensburg.de/id/eprint/61000 |
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