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Clinical outcome of pediatric medulloblastoma patients with Li-Fraumeni syndrome

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Clinical outcome of pediatric medulloblastoma patients with Li-Fraumeni syndrome. / Kolodziejczak, Anna S; Guerrini-Rousseau, Lea; Planchon, Julien Masliah; Ecker, Jonas; Selt, Florian; Mynarek, Martin; Obrecht, Denise; Sill, Martin; Autry, Robert J; Zhao, Eric; Hirsch, Steffen; Amouyal, Elsa; Dufour, Christelle; Ayrault, Olivier; Torrejon, Jacob; Waszak, Sebastian M; Ramaswamy, Vijay; Pentikainen, Virve; Demir, Haci Ahmet; Clifford, Steven C; Schwalbe, Ed C; Massimi, Luca; Snuderl, Matija; Galbraith, Kristyn; Karajannis, Matthias A; Hill, Katherine; Li, Bryan K; Walsh, Mike; White, Christine L; Redmond, Shelagh; Loizos, Loizou; Jakob, Marcus; Kordes, Uwe R; Schmid, Irene; Hauer, Julia; Blattmann, Claudia; Filippidou, Maria; Piccolo, Gianluca; Scheurlen, Wolfram; Farrag, Ahmed; Grund, Kerstin; Sutter, Christian; Pietsch, Torsten; Frank, Stephan; Schewe, Denis M; Malkin, David; Ben-Arush, Myriam; Sehested, Astrid; Wong, Tai-Tong; Wu, Kuo-Sheng; Liu, Yen-Lin; Carceller, Fernando; Mueller, Sabine; Stoller, Schuyler; Taylor, Michael D; Tabori, Uri; Bouffet, Eric; Kool, Marcel; Sahm, Felix; von Deimling, Andreas; Korshunov, Andrey; von Hoff, Katja; Kratz, Christian P; Sturm, Dominik; Jones, David T W; Rutkowski, Stefan; van Tilburg, Cornelis M; Witt, Olaf; Bougeard, Gaëlle; Pajtler, Kristian W; Pfister, Stefan M; Bourdeaut, Franck; Milde, Till.

In: NEURO-ONCOLOGY, Vol. 25, No. 12, 08.12.2023, p. 2273-2286.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Kolodziejczak, AS, Guerrini-Rousseau, L, Planchon, JM, Ecker, J, Selt, F, Mynarek, M, Obrecht, D, Sill, M, Autry, RJ, Zhao, E, Hirsch, S, Amouyal, E, Dufour, C, Ayrault, O, Torrejon, J, Waszak, SM, Ramaswamy, V, Pentikainen, V, Demir, HA, Clifford, SC, Schwalbe, EC, Massimi, L, Snuderl, M, Galbraith, K, Karajannis, MA, Hill, K, Li, BK, Walsh, M, White, CL, Redmond, S, Loizos, L, Jakob, M, Kordes, UR, Schmid, I, Hauer, J, Blattmann, C, Filippidou, M, Piccolo, G, Scheurlen, W, Farrag, A, Grund, K, Sutter, C, Pietsch, T, Frank, S, Schewe, DM, Malkin, D, Ben-Arush, M, Sehested, A, Wong, T-T, Wu, K-S, Liu, Y-L, Carceller, F, Mueller, S, Stoller, S, Taylor, MD, Tabori, U, Bouffet, E, Kool, M, Sahm, F, von Deimling, A, Korshunov, A, von Hoff, K, Kratz, CP, Sturm, D, Jones, DTW, Rutkowski, S, van Tilburg, CM, Witt, O, Bougeard, G, Pajtler, KW, Pfister, SM, Bourdeaut, F & Milde, T 2023, 'Clinical outcome of pediatric medulloblastoma patients with Li-Fraumeni syndrome', NEURO-ONCOLOGY, vol. 25, no. 12, pp. 2273-2286. https://doi.org/10.1093/neuonc/noad114

APA

Kolodziejczak, A. S., Guerrini-Rousseau, L., Planchon, J. M., Ecker, J., Selt, F., Mynarek, M., Obrecht, D., Sill, M., Autry, R. J., Zhao, E., Hirsch, S., Amouyal, E., Dufour, C., Ayrault, O., Torrejon, J., Waszak, S. M., Ramaswamy, V., Pentikainen, V., Demir, H. A., ... Milde, T. (2023). Clinical outcome of pediatric medulloblastoma patients with Li-Fraumeni syndrome. NEURO-ONCOLOGY, 25(12), 2273-2286. https://doi.org/10.1093/neuonc/noad114

Vancouver

Kolodziejczak AS, Guerrini-Rousseau L, Planchon JM, Ecker J, Selt F, Mynarek M et al. Clinical outcome of pediatric medulloblastoma patients with Li-Fraumeni syndrome. NEURO-ONCOLOGY. 2023 Dec 8;25(12):2273-2286. https://doi.org/10.1093/neuonc/noad114

Bibtex

@article{9d7c1ffa9f544fcebb5bea2912dd0188,
title = "Clinical outcome of pediatric medulloblastoma patients with Li-Fraumeni syndrome",
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 post-operative 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.",
author = "Kolodziejczak, {Anna S} and Lea Guerrini-Rousseau and Planchon, {Julien Masliah} and Jonas Ecker and Florian Selt and Martin Mynarek and Denise Obrecht and Martin Sill and Autry, {Robert J} and Eric Zhao and Steffen Hirsch and Elsa Amouyal and Christelle Dufour and Olivier Ayrault and Jacob Torrejon and Waszak, {Sebastian M} and Vijay Ramaswamy and Virve Pentikainen and Demir, {Haci Ahmet} and Clifford, {Steven C} and Schwalbe, {Ed C} and Luca Massimi and Matija Snuderl and Kristyn Galbraith and Karajannis, {Matthias A} and Katherine Hill and Li, {Bryan K} and Mike Walsh and White, {Christine L} and Shelagh Redmond and Loizou Loizos and Marcus Jakob and Kordes, {Uwe R} and Irene Schmid and Julia Hauer and Claudia Blattmann and Maria Filippidou and Gianluca Piccolo and Wolfram Scheurlen and Ahmed Farrag and Kerstin Grund and Christian Sutter and Torsten Pietsch and Stephan Frank and Schewe, {Denis M} and David Malkin and Myriam Ben-Arush and Astrid Sehested and Tai-Tong Wong and Kuo-Sheng Wu and Yen-Lin Liu and Fernando Carceller and Sabine Mueller and Schuyler Stoller and Taylor, {Michael D} and Uri Tabori and Eric Bouffet and Marcel Kool and Felix Sahm and {von Deimling}, Andreas and Andrey Korshunov and {von Hoff}, Katja and Kratz, {Christian P} and Dominik Sturm and Jones, {David T W} and Stefan Rutkowski and {van Tilburg}, {Cornelis M} and Olaf Witt and Ga{\"e}lle Bougeard and Pajtler, {Kristian W} and Pfister, {Stefan M} and Franck Bourdeaut and Till Milde",
note = "{\textcopyright} The Author(s) 2023. Published by Oxford University Press on behalf of the Society for Neuro-Oncology. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.",
year = "2023",
month = dec,
day = "8",
doi = "10.1093/neuonc/noad114",
language = "English",
volume = "25",
pages = "2273--2286",
journal = "NEURO-ONCOLOGY",
issn = "1522-8517",
publisher = "Oxford University Press",
number = "12",

}

RIS

TY - JOUR

T1 - Clinical outcome of pediatric medulloblastoma patients with Li-Fraumeni syndrome

AU - Kolodziejczak, Anna S

AU - Guerrini-Rousseau, Lea

AU - Planchon, Julien Masliah

AU - Ecker, Jonas

AU - Selt, Florian

AU - Mynarek, Martin

AU - Obrecht, Denise

AU - Sill, Martin

AU - Autry, Robert J

AU - Zhao, Eric

AU - Hirsch, Steffen

AU - Amouyal, Elsa

AU - Dufour, Christelle

AU - Ayrault, Olivier

AU - Torrejon, Jacob

AU - Waszak, Sebastian M

AU - Ramaswamy, Vijay

AU - Pentikainen, Virve

AU - Demir, Haci Ahmet

AU - Clifford, Steven C

AU - Schwalbe, Ed C

AU - Massimi, Luca

AU - Snuderl, Matija

AU - Galbraith, Kristyn

AU - Karajannis, Matthias A

AU - Hill, Katherine

AU - Li, Bryan K

AU - Walsh, Mike

AU - White, Christine L

AU - Redmond, Shelagh

AU - Loizos, Loizou

AU - Jakob, Marcus

AU - Kordes, Uwe R

AU - Schmid, Irene

AU - Hauer, Julia

AU - Blattmann, Claudia

AU - Filippidou, Maria

AU - Piccolo, Gianluca

AU - Scheurlen, Wolfram

AU - Farrag, Ahmed

AU - Grund, Kerstin

AU - Sutter, Christian

AU - Pietsch, Torsten

AU - Frank, Stephan

AU - Schewe, Denis M

AU - Malkin, David

AU - Ben-Arush, Myriam

AU - Sehested, Astrid

AU - Wong, Tai-Tong

AU - Wu, Kuo-Sheng

AU - Liu, Yen-Lin

AU - Carceller, Fernando

AU - Mueller, Sabine

AU - Stoller, Schuyler

AU - Taylor, Michael D

AU - Tabori, Uri

AU - Bouffet, Eric

AU - Kool, Marcel

AU - Sahm, Felix

AU - von Deimling, Andreas

AU - Korshunov, Andrey

AU - von Hoff, Katja

AU - Kratz, Christian P

AU - Sturm, Dominik

AU - Jones, David T W

AU - Rutkowski, Stefan

AU - van Tilburg, Cornelis M

AU - Witt, Olaf

AU - Bougeard, Gaëlle

AU - Pajtler, Kristian W

AU - Pfister, Stefan M

AU - Bourdeaut, Franck

AU - Milde, Till

N1 - © The Author(s) 2023. Published by Oxford University Press on behalf of the Society for Neuro-Oncology. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

PY - 2023/12/8

Y1 - 2023/12/8

N2 - 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 post-operative 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.

AB - 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 post-operative 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.

U2 - 10.1093/neuonc/noad114

DO - 10.1093/neuonc/noad114

M3 - SCORING: Journal article

C2 - 37379234

VL - 25

SP - 2273

EP - 2286

JO - NEURO-ONCOLOGY

JF - NEURO-ONCOLOGY

SN - 1522-8517

IS - 12

ER -