title: Pathology and diagnosis of SMARCB1-deficient tumors.
abstract: Malignant rhabdoid tumor (MRT) can occur in the kidney, central nervous system, or extracranial/extrarenal locations and is characterized by alterations in the SMARCB1 gene. The tumors occur in infants and young children and confer a poor prognosis requiring aggressive therapeutic interventions to improve the chances for survival. MRTs pose a diagnostic challenge, as they display heterogeneous histopathologic features and differentiate along multiple lineages. The identification of alterations in the SMARCB1 gene in MRT using immunohistochemical (IHC) staining has lead to improved diagnosis of MRT as well as the discovery of the loss of SMARCB1 expression in some non-MRTs. Whether loss of SMARCB1 plays a pathogenic role in nonrhabdoid tumors remains to be determined; however, most of these tumors lack the clinical and other molecular features of MRT. We review the histopathologic features of MRT and the importance and significance of loss of expression of SMARCB1 in both MRT and nonrhabdoid tumors.
authors.affiliation: Children's Hospital Los Angeles, Los Angeles, CA, USA; Department of Pediatrics, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
authors.forename: Ashley S
authors.initials: AS
authors.lastname: Margol
authors.affiliation: Children's Hospital Los Angeles, Los Angeles, CA, USA; Department of Pathology, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA. Electronic address: ajudkins@chla.usc.edu.
authors.forename: Alexander R
authors.initials: AR
authors.lastname: Judkins
mesh_terms: D014408:Biomarkers, Tumor / Q000235:genetics; D016543:Central Nervous System Neoplasms / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D002675:Child, Preschool; D002868:Chromosomal Proteins, Non-Histone / Q000096:biosynthesis / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000096:biosynthesis / Q000235:genetics*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007680:Kidney Neoplasms / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D009154:Mutation; D018335:Rhabdoid Tumor / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology*; D000071796:SMARCB1 Protein; D012983:Soft Tissue Neoplasms / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D014157:Transcription Factors / Q000096:biosynthesis / Q000235:genetics*; D025521:Tumor Suppressor Proteins / Q000235:genetics
chemical_list: D014408:Biomarkers, Tumor; 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: Renal rhabdoid tumors; SMARCB1/SNF5/BAF47/INI1; atypical teratoid/rhabdoid tumors; soft tissue rhabdoid tumors