Favorable outcome of patients affected by rhabdoid tumors due to rhabdoid tumor predisposition syndrome (RTPS)

Standard

Favorable outcome of patients affected by rhabdoid tumors due to rhabdoid tumor predisposition syndrome (RTPS). / Kordes, Uwe; Bartelheim, Kerstin; Modena, Piergiorgio; Massimino, Maura; Biassoni, Veronica; Reinhard, Harald; Hasselblatt, Martin; Schneppenheim, Reinhard; Frühwald, Michael C.

In: PEDIATR BLOOD CANCER, Vol. 61, No. 5, 01.05.2014, p. 919-21.

Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

Harvard

Kordes, U, Bartelheim, K, Modena, P, Massimino, M, Biassoni, V, Reinhard, H, Hasselblatt, M, Schneppenheim, R & Frühwald, MC 2014, 'Favorable outcome of patients affected by rhabdoid tumors due to rhabdoid tumor predisposition syndrome (RTPS)', PEDIATR BLOOD CANCER, vol. 61, no. 5, pp. 919-21. https://doi.org/10.1002/pbc.24793

APA

Kordes, U., Bartelheim, K., Modena, P., Massimino, M., Biassoni, V., Reinhard, H., Hasselblatt, M., Schneppenheim, R., & Frühwald, M. C. (2014). Favorable outcome of patients affected by rhabdoid tumors due to rhabdoid tumor predisposition syndrome (RTPS). PEDIATR BLOOD CANCER, 61(5), 919-21. https://doi.org/10.1002/pbc.24793

Vancouver

Bibtex

@article{7cd3d69c0c6e44459fd3c6a96f483eee,
title = "Favorable outcome of patients affected by rhabdoid tumors due to rhabdoid tumor predisposition syndrome (RTPS)",
abstract = "Rhabdoid tumor predisposition syndrome is usually associated with shorter survival in patients with malignant rhabdoid tumors regardless of anatomical origin. Here we present four children harboring truncating heterozygous SMARCB1/INI1 germline mutations with favorable outcome. All four patients received multi-modality treatment, three according to therapeutic recommendations by the EU-RHAB registry, two without radiotherapy, and mean event-free survival accounts for 7 years. In conclusion, intensive treatment with curative intent is justified for children with rhabdoid tumors even if an underlying rhabdoid predisposition syndrome is demonstrated.",
keywords = "Child, Child, Preschool, Chromosomal Proteins, Non-Histone, Combined Modality Therapy, DNA-Binding Proteins, Female, Genetic Predisposition to Disease, Germ-Line Mutation, Heterozygote, Humans, Infant, Newborn, Male, Rhabdoid Tumor, Syndrome, Transcription Factors, Treatment Outcome",
author = "Uwe Kordes and Kerstin Bartelheim and Piergiorgio Modena and Maura Massimino and Veronica Biassoni and Harald Reinhard and Martin Hasselblatt and Reinhard Schneppenheim and Fr{\"u}hwald, {Michael C}",
note = "{\textcopyright} 2013 Wiley Periodicals, Inc.",
year = "2014",
month = may,
day = "1",
doi = "10.1002/pbc.24793",
language = "English",
volume = "61",
pages = "919--21",
journal = "PEDIATR BLOOD CANCER",
issn = "1545-5009",
publisher = "Wiley-Liss Inc.",
number = "5",

}

RIS

TY - JOUR

T1 - Favorable outcome of patients affected by rhabdoid tumors due to rhabdoid tumor predisposition syndrome (RTPS)

AU - Kordes, Uwe

AU - Bartelheim, Kerstin

AU - Modena, Piergiorgio

AU - Massimino, Maura

AU - Biassoni, Veronica

AU - Reinhard, Harald

AU - Hasselblatt, Martin

AU - Schneppenheim, Reinhard

AU - Frühwald, Michael C

N1 - © 2013 Wiley Periodicals, Inc.

PY - 2014/5/1

Y1 - 2014/5/1

N2 - Rhabdoid tumor predisposition syndrome is usually associated with shorter survival in patients with malignant rhabdoid tumors regardless of anatomical origin. Here we present four children harboring truncating heterozygous SMARCB1/INI1 germline mutations with favorable outcome. All four patients received multi-modality treatment, three according to therapeutic recommendations by the EU-RHAB registry, two without radiotherapy, and mean event-free survival accounts for 7 years. In conclusion, intensive treatment with curative intent is justified for children with rhabdoid tumors even if an underlying rhabdoid predisposition syndrome is demonstrated.

AB - Rhabdoid tumor predisposition syndrome is usually associated with shorter survival in patients with malignant rhabdoid tumors regardless of anatomical origin. Here we present four children harboring truncating heterozygous SMARCB1/INI1 germline mutations with favorable outcome. All four patients received multi-modality treatment, three according to therapeutic recommendations by the EU-RHAB registry, two without radiotherapy, and mean event-free survival accounts for 7 years. In conclusion, intensive treatment with curative intent is justified for children with rhabdoid tumors even if an underlying rhabdoid predisposition syndrome is demonstrated.

KW - Child

KW - Child, Preschool

KW - Chromosomal Proteins, Non-Histone

KW - Combined Modality Therapy

KW - DNA-Binding Proteins

KW - Female

KW - Genetic Predisposition to Disease

KW - Germ-Line Mutation

KW - Heterozygote

KW - Humans

KW - Infant, Newborn

KW - Male

KW - Rhabdoid Tumor

KW - Syndrome

KW - Transcription Factors

KW - Treatment Outcome

U2 - 10.1002/pbc.24793

DO - 10.1002/pbc.24793

M3 - SCORING: Journal article

C2 - 24123847

VL - 61

SP - 919

EP - 921

JO - PEDIATR BLOOD CANCER

JF - PEDIATR BLOOD CANCER

SN - 1545-5009

IS - 5

ER -