title: Rhabdoid tumor: the Irish experience 1986-2013.
abstract: Nomenclature for the three recognized forms of rhabdoid tumor reflect their anatomic localization and include malignant rhabdoid tumor of the kidney (MRTK), extrarenal extracranial rhabdoid tumor (EERT), and atypical teratoid rhabdoid tumor (ATRT) involving the central nervous system. A strikingly simple karyotype belies the fact that rhabdoid tumors are among the most lethal human cancers, and now early strides are beginning to elucidate their molecular pathogenesis. Rhabdoid tumors are largely confined to the pediatric population, where they occur preferentially during infancy. Given the rarity of this tumor, international consensus on best treatment has only recently been achieved in conjunction with the establishment of the European Rhabdoid Tumor Registry. Between 1986 and 2013, 25 pediatric patients were diagnosed with rhabdoid tumor in the Republic of Ireland. Of these patients, 13 presented with ATRT, eight had MRTK, and four had EERT. The mean age at diagnosis was 38.8 months, with an equal sex incidence. Because of the lack of a standardized treatment strategy for rhabdoid tumors, these patients have been treated largely according to anatomic site, based on sarcoma, renal, or brain tumor protocols contemporary to their diagnoses. Of the patients, 84% received chemotherapy, 80% underwent surgery, and 44% had radiation therapy. The outcome overall was poor, independent of anatomic location. The overall survival rate was 24%, and mean time to death was just under 9 months.
authors.affiliation: National Children's Research Center, Our Lady's Children's Hospital, Crumlin, Dublin, Ireland.
authors.forename: Alice
authors.initials: A
authors.lastname: Uwineza
authors.affiliation: National Center for Medical Genetics, Our Lady's Children's Hospital, Crumlin, Dublin, Ireland.
authors.forename: Harinder
authors.initials: H
authors.lastname: Gill
authors.affiliation: Molecular Pathology Laboratory, Clinical Directorate of Laboratory Medicine, Beaumont Hospital, Dublin, Ireland.
authors.forename: Patrick
authors.initials: P
authors.lastname: Buckley
authors.affiliation: National Pediatric Oncology Unit, Our Lady's Children's Hospital, Crumlin, Dublin, Ireland.
authors.forename: Cormac
authors.initials: C
authors.lastname: Owens
authors.affiliation: National Pediatric Oncology Unit, Our Lady's Children's Hospital, Crumlin, Dublin, Ireland.
authors.forename: Michael
authors.initials: M
authors.lastname: Capra
authors.affiliation: Radiation Oncology Unit, St. Luke's Hospital, Rathgar, Dublin, Ireland.
authors.forename: Catriona
authors.initials: C
authors.lastname: O'Sullivan
authors.affiliation: Histology Laboratory, Pathology Department, Our Lady's Children's Hospital, Crumlin, Dublin, Ireland.
authors.forename: Michael
authors.initials: M
authors.lastname: McDermott
authors.affiliation: Neuropathology Laboratory, Pathology Department, Beaumont Hospital, Dublin, Ireland.
authors.forename: Francesca
authors.initials: F
authors.lastname: Brett
authors.affiliation: Neuropathology Laboratory, Pathology Department, Beaumont Hospital, Dublin, Ireland.
authors.forename: Michael
authors.initials: M
authors.lastname: Farrell
authors.affiliation: National Pediatric Oncology Unit, Our Lady's Children's Hospital, Crumlin, Dublin, Ireland.
authors.forename: Jane
authors.initials: J
authors.lastname: Pears
authors.affiliation: National Children's Research Center, Our Lady's Children's Hospital, Crumlin, Dublin, Ireland; Histology Laboratory, Pathology Department, Our Lady's Children's Hospital, Crumlin, Dublin, Ireland; Trinity College, Dublin, College Green, Dublin, Ireland. Electronic address: maureen.osullivan@tcd.ie.
authors.forename: Maureen J
authors.initials: MJ
authors.lastname: O'Sullivan
mesh_terms: D000293:Adolescent; D001483:Base Sequence; D016543:Central Nervous System Neoplasms / Q000145:classification* / Q000235:genetics / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D002868:Chromosomal Proteins, Non-Histone / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007494:Ireland; D059785:Karyotype; D007680:Kidney Neoplasms / Q000145:classification* / Q000235:genetics / Q000401:mortality; D008297:Male; D009364:Neoplasm Recurrence, Local / Q000473:pathology; D018335:Rhabdoid Tumor / Q000145:classification* / Q000235:genetics / Q000473:pathology; D000071796:SMARCB1 Protein; D017384:Sequence Deletion; D015996:Survival Rate; D013724:Teratoma / Q000145:classification* / Q000235:genetics / Q000473:pathology; D014157:Transcription Factors / Q000235:genetics
chemical_list: D002868:Chromosomal Proteins, Non-Histone; D004268:DNA-Binding Proteins; D000071796:SMARCB1 Protein; C513266:SMARCB1 protein, human; D014157:Transcription Factors
keywords: Irish; Rhabdoid tumor; SMARCB1; pediatric