title: Clinical and genetic features of rhabdoid tumors of the heart registered with the European Rhabdoid Registry (EU-RHAB).
abstract: Rhabdoid tumors are rare but highly aggressive malignancies of infancy and early childhood with a generally unfavorable prognosis. Despite a wide variety of anatomic locations rhabdoid tumors share mutational inactivation of the SWI/SNF (SWItch/Sucrose NonFermentable) core component gene SMARCB1 (also known as INI1, hSNF5 or BAF47) in chromosome 22. As this inactivation usually results in loss of SMARCB1 expression, detectable by an antibody against the SMARCB1 protein, the accurate diagnosis of a rhabdoid tumor may be more distinctly and frequently made. Several reports on rhabdoid tumors presenting in various anatomic sites outside the kidneys and CNS are on record. We report two cases of rhabdoid tumors originating in the heart (cardiac tissue), which were entered into the European Rhabdoid Registry (EU-RHAB). The first case presented with intracardial and -cranial lesions as well as malignant ascites, while the second patient demonstrated an isolated cardiac tumor. This induced a different therapeutic approach and subsequently different clinical course (death 7 weeks after diagnosis in patient 1). Patient 2 presented with a bifocal intracardial tumor without metastases and remains in complete remission for 46 months since diagnosis following multimodal therapy. The second case demonstrates that even in a potentially futile clinical situation early and accurate diagnosis followed by prompt and intensive multimodal therapy may offer prolonged survival, potential cure and improved quality of life.
authors: Children's Hospital Augsburg, Swabian Children's Cancer Center, Augsburg, Germany.
authors: Kerstin
authors: K
authors: Bartelheim
authors: Department of Pediatric Hematology and Oncology, University Hospital Motol, Charles University, 2nd Medical School, Prague, Czech Republic.
authors: David
authors: D
authors: Sumerauer
authors: Department of Pediatric Hematology and Oncology, Childrens' Hospital Schwabing, University of Technology, Munich, Germany.
authors: Uta
authors: U
authors: Behrends
authors: Department of Pathology and Molecular Medicine, University Hospital Motol, Charles University, 2nd Medical School, Prague, Czech Republic.
authors: Daniela
authors: D
authors: Kodetova
authors: Kardiocentrum and Cardiovascular Research Centre, University Hospital Motol, Prague, Czech Republic.
authors: Filip
authors: F
authors: Kucera
authors: Kiel Pediatric Tumor Registry, Department of Pediatric Pathology, University Kiel, Germany.
authors: Ivo
authors: I
authors: Leuschner
authors: Children's Hospital Augsburg, Swabian Children's Cancer Center, Augsburg, Germany.
authors: Petra
authors: P
authors: Neumayer
authors: Department of Paediatric Haematology and Oncology, University Medical Center Hamburg-Eppendorf, Germany.
authors: Florian
authors: F
authors: Oyen
authors: Department of Radiology, University of the Saarland, Homburg Saar, Germany.
authors: Christian
authors: C
authors: Rübe
authors: Institute of Human Genetics, Christian-Albrechts-University Kiel & University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany.
authors: Reiner
authors: R
authors: Siebert
authors: Department of Paediatric Haematology and Oncology, University Medical Center Hamburg-Eppendorf, Germany.
authors: Reinhard
authors: R
authors: Schneppenheim
authors: Children's Hospital Augsburg, Swabian Children's Cancer Center, Augsburg, Germany.
authors: Angela
authors: A
authors: Seeringer
authors: Department of Biology and Medical Genetics, University Hospital Motol, Charles University, 2nd Medical School, Prague, Czech Republic.
authors: Peter
authors: P
authors: Vasovcak
authors: Children's Hospital Augsburg, Swabian Children's Cancer Center, Augsburg, Germany; Department of Pediatric Hematology and Oncology, University Children's Hospital Münster, Germany. Electronic address: Michael.Fruehwald@klinikum-augsburg.de.
authors: Michael C
authors: MC
authors: Frühwald
mesh_terms: D000970:Antineoplastic Agents / Q000627:therapeutic use*; D002868:Chromosomal Proteins, Non-Histone / Q000096:biosynthesis / Q000235:genetics; D003131:Combined Modality Therapy; D004268:DNA-Binding Proteins / Q000096:biosynthesis / Q000235:genetics; D006338:Heart Neoplasms / Q000235:genetics* / Q000473:pathology* / Q000628:therapy; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D009362:Neoplasm Metastasis; D036102:Peripheral Blood Stem Cell Transplantation; D012042:Registries; D018335:Rhabdoid Tumor / Q000235:genetics* / Q000473:pathology* / Q000628:therapy; D000071796:SMARCB1 Protein; D014157:Transcription Factors / Q000096:biosynthesis / Q000235:genetics; D025521:Tumor Suppressor Proteins / Q000235:genetics
chemical_list: D000970:Antineoplastic Agents; D002868:Chromosomal Proteins, Non-Histone; D004268:DNA-Binding Proteins; D000071796:SMARCB1 Protein; C513266:SMARCB1 protein, human; C445179:SWI-SNF-B chromatin-remodeling complex; D014157:Transcription Factors; D025521:Tumor Suppressor Proteins
keywords: EU-RHAB; Rhabdoid tumor; SMARCB1; heart; intensive multimodal therapy