title: Detection of SMARCB1 loss in ascites cells in the diagnosis of an abdominal rhabdoid tumor.
abstract: We report on how MLPA and Sequencing of SMARCB1/INI1/SNF5 might be applied for initial diagnosis of rhabdoid tumor patients. These techniques were successfully used to detect loss of SMARCB1 in tumor cells of the ascites in a 3-month-old patient in which tumor biopsy could not initially be made due to life threatening intraabdominal bleedings.
authors: Pediatric Hematology and Oncology, University Childrens Hospital Münster, Münster, Germany.
authors: Kornelius
authors: K
authors: Kerl
authors: Florian
authors: F
authors: Oyen
authors: Ivo
authors: I
authors: Leuschner
authors: Reinhard
authors: R
authors: Schneppenheim
authors: Inga
authors: I
authors: Nagel
authors: Reiner
authors: R
authors: Siebert
authors: Andreas H
authors: AH
authors: Groll
authors: Wolfgang
authors: W
authors: Hartmann
authors: Peter Josef
authors: PJ
authors: Barth
authors: Kerstin
authors: K
authors: Bartelheim
authors: Angela
authors: A
authors: Seringer
authors: Eva
authors: E
authors: Wardelmann
authors: Michael C
authors: MC
authors: Frühwald
mesh_terms: D000008:Abdominal Neoplasms / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism; D001201:Ascites / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D014408:Biomarkers, Tumor / Q000235:genetics / Q000378:metabolism*; D002868:Chromosomal Proteins, Non-Histone / Q000235:genetics / Q000378:metabolism*; D004268:DNA-Binding Proteins / Q000235:genetics / Q000378:metabolism*; D005260:Female; D006801:Humans; D007124:Immunoenzyme Techniques; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D021141:Nucleic Acid Amplification Techniques; D016133:Polymerase Chain Reaction; D011379:Prognosis; D018335:Rhabdoid Tumor / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism; D000071796:SMARCB1 Protein; D014157:Transcription Factors / Q000235:genetics / Q000378:metabolism*
chemical_list: D014408:Biomarkers, Tumor; D002868:Chromosomal Proteins, Non-Histone; D004268:DNA-Binding Proteins; D000071796:SMARCB1 Protein; C513266:SMARCB1 protein, human; D014157:Transcription Factors
keywords: ATRT; chemotherapy; infants; radiation; rhabdoid tumors