Favorable outcome of patients affected by rhabdoid tumors due to rhabdoid tumor predisposition syndrome (RTPS)
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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 journal › SCORING: Journal article › Research › peer-review
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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 -