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.
authors.affiliation: Department of Pediatric Hematology and Oncology, University Medical Center Eppendorf, Hamburg, Germany.
authors.forename: Uwe
authors.initials: U
authors.lastname: Kordes
authors.forename: Kerstin
authors.initials: K
authors.lastname: Bartelheim
authors.forename: Piergiorgio
authors.initials: P
authors.lastname: Modena
authors.forename: Maura
authors.initials: M
authors.lastname: Massimino
authors.forename: Veronica
authors.initials: V
authors.lastname: Biassoni
authors.forename: Harald
authors.initials: H
authors.lastname: Reinhard
authors.forename: Martin
authors.initials: M
authors.lastname: Hasselblatt
authors.forename: Reinhard
authors.initials: R
authors.lastname: Schneppenheim
authors.forename: Michael C
authors.initials: MC
authors.lastname: Frühwald
mesh_terms: D002648:Child; D002675:Child, Preschool; D002868:Chromosomal Proteins, Non-Histone / Q000235:genetics*; D003131:Combined Modality Therapy; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D018095:Germ-Line Mutation / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D018335:Rhabdoid Tumor / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy*; D000071796:SMARCB1 Protein; D013577:Syndrome; D014157:Transcription Factors / Q000235:genetics*; D016896:Treatment Outcome
chemical_list: D002868:Chromosomal Proteins, Non-Histone; D004268:DNA-Binding Proteins; D000071796:SMARCB1 Protein; C513266:SMARCB1 protein, human; D014157:Transcription Factors
keywords: SMARCB1 germline mutation; atypical teratoid/rhabdoid tumor; treatment outcome