title: Synchronous congenital malignant rhabdoid tumor of the orbit and atypical teratoid/rhabdoid tumor--feasibility and efficacy of multimodal therapy in a long-term survivor.
abstract: Among infant malignancies, congenital tumors, especially those of the central nervous system (CNS), constitute a rather unique subgroup. Poor survival rates (28% in CNS tumors) may be attributed to the aggressive biology as well as specific therapeutic limitations innate to the young age of affected patients. Our patient developed synchronous congenital tumors: an atypical teratoid/rhabdoid tumor (AT/RT) localized in the right lateral ventricle of the brain and a malignant rhabdoid tumor (MRT) in the soft tissue of the right orbit. A de novo germline chromosomal deletion in 22q encompassing the SMARCB1 gene was detected, prompting the diagnosis of a de novo rhabdoid tumor predisposition syndrome 1 (RTPS1). The patient was reported to the European Rhabdoid Registry (EU-RHAB) and treated according to the Rhabdoid 2007 recommendation. Despite the very young age of the patient, the initially desperate situation of RTPS1, and the synchronous localization of congenital rhabdoid tumors, intensive chemotherapy was well tolerated; the child is still in complete remission 5 years following diagnosis. In conclusion, RTPS1 with congenital synchronous MRTs is not necessarily associated with a detrimental outcome. Intensive multidrug chemotherapy, including high dose chemotherapy, may be feasible and justified.
authors.affiliation: Swabian Children's Cancer Center, Children's Hospital Augsburg, Augsburg, Germany.
authors.forename: Angela
authors.initials: A
authors.lastname: Seeringer
authors.affiliation: Department of Pediatric Oncology, Children's Hospital St. Augustin, Sankt Augustin, Germany.
authors.forename: Harald
authors.initials: H
authors.lastname: Reinhard
authors.affiliation: Institute of Neuropathology, University Hospital Münster, Münster, Germany.
authors.forename: Martin
authors.initials: M
authors.lastname: Hasselblatt
authors.affiliation: Department of Pediatric Hematology and Oncology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
authors.forename: Reinhard
authors.initials: R
authors.lastname: Schneppenheim
authors.affiliation: Institute of Human Genetics, Christian-Albrechts-University Kiel and University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany.
authors.forename: Reiner
authors.initials: R
authors.lastname: Siebert
authors.affiliation: Swabian Children's Cancer Center, Children's Hospital Augsburg, Augsburg, Germany.
authors.forename: Kerstin
authors.initials: K
authors.lastname: Bartelheim
authors.affiliation: Institute of Pathology, Christian-Albrechts-University Kiel & University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany.
authors.forename: Ivo
authors.initials: I
authors.lastname: Leuschner
authors.affiliation: Swabian Children's Cancer Center, Children's Hospital Augsburg, Augsburg, Germany; Department of Pediatric Hematology and Oncology, University Children's Hospital Münster, Münster, Germany. Electronic address: michael.fruehwald@klinikum-augsburg.de.
authors.forename: Michael C
authors.initials: MC
authors.lastname: Frühwald
mesh_terms: D000970:Antineoplastic Agents / Q000627:therapeutic use; D000971:Antineoplastic Combined Chemotherapy Protocols / Q000627:therapeutic use; D001932:Brain Neoplasms / Q000151:congenital* / Q000473:pathology / Q000628:therapy; D002675:Child, Preschool; D002868:Chromosomal Proteins, Non-Histone / Q000235:genetics*; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D003131:Combined Modality Therapy; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D006801:Humans; D007680:Kidney Neoplasms / Q000151:congenital / Q000473:pathology / Q000628:therapy; D009378:Neoplasms, Multiple Primary / Q000151:congenital / Q000235:genetics* / Q000473:pathology; D009918:Orbital Neoplasms / Q000151:congenital* / Q000473:pathology / Q000628:therapy; D018335:Rhabdoid Tumor / Q000151:congenital* / Q000473:pathology / Q000628:therapy; D000071796:SMARCB1 Protein; D017741:Survivors; D013724:Teratoma / Q000151:congenital* / Q000473:pathology / Q000628:therapy; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D000970:Antineoplastic Agents; D002868:Chromosomal Proteins, Non-Histone; D004268:DNA-Binding Proteins; D000071796:SMARCB1 Protein; C513266:SMARCB1 protein, human; D014157:Transcription Factors
keywords: Atypical teratoid/rhabdoid tumor; multimodal therapy; rhabdoid tumor predisposition syndrome 1; synchronous congenital tumors