title: Coexistent loss of INI1 and BRG1 expression in a rhabdoid renal cell carcinoma (RCC): implications for a possible role of SWI/SNF complex in the pathogenesis of RCC.
abstract: In this study, we analyzed the immunohistochemical and molecular profiles of an unusual RCC showed coexistent absence of INI1 and BRG1 expression, rhabdoid morphology, and poor prognosis. Histologically, the tumor had rhabdoid features, which were demonstrated by large round to polygonal cells with eccentric nuclei, prominent nucleoli, and eosinophilic cytoplasm varying from abundant to scanty. Immunohistochemically, the tumor were positive for BRM, PBRM1, ARID1A, CD10, CKpan, Vimentin, carbonic anhydrase IX (CA-IX), and P504S (AMACR) but negative for INI1, BRG1, HMB45, melan A, CK7, CD117, Ksp-cadherin, TFEB, TFE3, and Cathepsin K. We detected all three exons status of the VHL gene of the tumor and observed 1 somatic mutations in 1st exon. Chromosome 3p deletion, coupled with polysomy of chromosome 3 was also found. Based on these findings, it is further indicated that in some cases, rhabdoid RCC may arise from clear cell RCC. SWI/SNF chromatin remodeling complex may be an attractive candidate for being the "second hit" in RCCs and may play an important role during tumor progression. The role of SWI/SNF complex in rhabdoid RCC should be further studied on a larger number of cases.
authors.affiliation: Department of Pathology, Nanjing Jinling Hospital, Nanjing University School of Medicine Nanjing, China.
authors.forename: Qiu
authors.initials: Q
authors.lastname: Rao
authors.affiliation: Department of Pathology, Nanjing Jinling Hospital, Nanjing University School of Medicine Nanjing, China.
authors.forename: Qiu-Yuan
authors.initials: QY
authors.lastname: Xia
authors.affiliation: Department of Pathology, Nanjing Jinling Hospital, Nanjing University School of Medicine Nanjing, China.
authors.forename: Qin
authors.initials: Q
authors.lastname: Shen
authors.affiliation: Department of Pathology, Nanjing Jinling Hospital, Nanjing University School of Medicine Nanjing, China.
authors.forename: Shan-Shan
authors.initials: SS
authors.lastname: Shi
authors.affiliation: Department of Pathology, Nanjing Jinling Hospital, Nanjing University School of Medicine Nanjing, China.
authors.forename: Pin
authors.initials: P
authors.lastname: Tu
authors.affiliation: Department of Pathology, Nanjing Jinling Hospital, Nanjing University School of Medicine Nanjing, China.
authors.forename: Qun-Li
authors.initials: QL
authors.lastname: Shi
authors.affiliation: Department of Pathology, Nanjing Jinling Hospital, Nanjing University School of Medicine Nanjing, China.
authors.forename: Xiao-Jun
authors.initials: XJ
authors.lastname: Zhou
mesh_terms: D000368:Aged; D002292:Carcinoma, Renal Cell / Q000209:etiology* / Q000235:genetics / Q000503:physiopathology; D002868:Chromosomal Proteins, Non-Histone / Q000172:deficiency* / Q000235:genetics / Q000502:physiology*; D004265:DNA Helicases / Q000172:deficiency* / Q000235:genetics / Q000502:physiology; D004268:DNA-Binding Proteins / Q000172:deficiency* / Q000235:genetics / Q000502:physiology; D018450:Disease Progression; D017809:Fatal Outcome; D015972:Gene Expression Regulation, Neoplastic; D006801:Humans; D007680:Kidney Neoplasms / Q000209:etiology* / Q000235:genetics / Q000503:physiopathology; D008297:Male; D009687:Nuclear Proteins / Q000172:deficiency* / Q000235:genetics / Q000502:physiology; D011379:Prognosis; D000071796:SMARCB1 Protein; D014157:Transcription Factors / Q000172:deficiency* / Q000235:genetics / Q000502:physiology*
chemical_list: D002868:Chromosomal Proteins, Non-Histone; D004268:DNA-Binding Proteins; D009687:Nuclear Proteins; D000071796:SMARCB1 Protein; C513266:SMARCB1 protein, human; C445179:SWI-SNF-B chromatin-remodeling complex; D014157:Transcription Factors; C084108:SMARCA4 protein, human; D004265:DNA Helicases
keywords: BRG1; INI1; SMARCA4; SMARCB1; SWI/SNF complex; immunohistochemistry; renal cell carcinoma; rhabdoid