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Synchronous congenital malignant rhabdoid tumor of the orbit and atypical teratoid/rhabdoid tumor--feasibility and efficacy of multimodal therapy in a long-term survivor.
Seeringer, Angela; Reinhard, Harald; Hasselblatt, Martin; Schneppenheim, Reinhard; Siebert, Reiner; Bartelheim, Kerstin; Leuschner, Ivo; Frühwald, Michael C.
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  • Seeringer A; Swabian Children's Cancer Center, Children's Hospital Augsburg, Augsburg, Germany.
  • Reinhard H; Department of Pediatric Oncology, Children's Hospital St. Augustin, Sankt Augustin, Germany.
  • Hasselblatt M; Institute of Neuropathology, University Hospital Münster, Münster, Germany.
  • Schneppenheim R; Department of Pediatric Hematology and Oncology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
  • Siebert R; Institute of Human Genetics, Christian-Albrechts-University Kiel and University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany.
  • Bartelheim K; Swabian Children's Cancer Center, Children's Hospital Augsburg, Augsburg, Germany.
  • Leuschner I; Institute of Pathology, Christian-Albrechts-University Kiel & University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany.
  • Frühwald MC; 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.
Cancer Genet ; 207(9): 429-33, 2014 Sep.
Article en En | MEDLINE | ID: mdl-25262118
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.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Teratoma / Factores de Transcripción / Neoplasias Encefálicas / Neoplasias Orbitales / Proteínas Cromosómicas no Histona / Tumor Rabdoide / Proteínas de Unión al ADN / Neoplasias Primarias Múltiples Tipo de estudio: Guideline Límite: Child, preschool / Female / Humans Idioma: En Revista: Cancer Genet Año: 2014 Tipo del documento: Article País de afiliación: Alemania Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Teratoma / Factores de Transcripción / Neoplasias Encefálicas / Neoplasias Orbitales / Proteínas Cromosómicas no Histona / Tumor Rabdoide / Proteínas de Unión al ADN / Neoplasias Primarias Múltiples Tipo de estudio: Guideline Límite: Child, preschool / Female / Humans Idioma: En Revista: Cancer Genet Año: 2014 Tipo del documento: Article País de afiliación: Alemania Pais de publicación: Estados Unidos