title: [Renal cell carcinoma with t(6;11)(p21.2;q13)/MALAT1-TFEB fusion: a clinical and pathological analysis].
abstract: OBJECTIVE
  To study the clinicopathologic features, immunophenotype, differential diagnosis and prognosis of renal cell carcinoma (RCC) associated with t(6;11)(p21.2;q13)/MALAT1-TFEB gene fusion.
  
  
  METHODS
  A total of 9 cases of such rare tumor were selected for clinicopathologic, immunohistochemical and molecular analysis, with review of literature.
  
  
  RESULTS
  The age of the patients ranged from 21 to 42 years (mean=31.3 years). The patients included four men and five women. Histologically, 4 of the 9 cases studied showed classic morphologic features of TFEB RCC, with hyaline material, pigments and psammoma bodies frequently identified. The remaining 5 cases demonstrated uncommon morphology, mimicking perivascular epithelioid cell neoplasm, clear cell RCC, chromophobe RCC or papillary RCC. Immunohistochemical study showed that TFEB and vimentin were positive in all cases. Most of the tumors studied also expressed Ksp-cadherin, E-cadherin, CD117, HMB45, Melan A and Cathepsin K. CKpan showed immunostaining in only 1 case. The staining for TFE3, CD10 and CK7 were all negative. TFEB gene rearrangement was detected in all the 9 cases studied using fluorescence in-situ hybridization. MALAT1-TFEB fusion gene was identified in 2 cases by polymerase chain reaction and direct sequencing. TFEB RCC seemed to be an indolent tumor. During a mean follow-up of 31 months, none developed tumor recurrence, progression, or metastasis.
  
  
  CONCLUSIONS
  TFEB fusion-associated RCC is a rare neoplasm, tends to occur in young age group and carries an indolent behavior. Diagnosis relies on clinicopathologic findings and immunohistochemical analysis. TFEB break-apart FISH assay is a reliable tool in confirming the diagnosis.
authors.affiliation: Department of Pathology, Nanjing Jinling Hospital, Nanjing University School of Medicine, Nanjing 210002, China.
authors.forename: Qiuyuan
authors.initials: Q
authors.lastname: Xia
authors.affiliation: Department of Pathology, Nanjing Jinling Hospital, Nanjing University School of Medicine, Nanjing 210002, China.
authors.forename: Shanshan
authors.initials: S
authors.lastname: Shi
authors.affiliation: Department of Pathology, Nanjing Jinling Hospital, Nanjing University School of Medicine, Nanjing 210002, China.
authors.forename: Qin
authors.initials: Q
authors.lastname: Shen
authors.affiliation: Department of Pathology, Nanjing Jinling Hospital, Nanjing University School of Medicine, Nanjing 210002, China.
authors.forename: Xue
authors.initials: X
authors.lastname: Wei
authors.affiliation: Department of Pathology, Nanjing Jinling Hospital, Nanjing University School of Medicine, Nanjing 210002, China.
authors.forename: Xuan
authors.initials: X
authors.lastname: Wang
authors.affiliation: Department of Pathology, Nanjing Jinling Hospital, Nanjing University School of Medicine, Nanjing 210002, China.
authors.forename: Henghui
authors.initials: H
authors.lastname: Ma
authors.affiliation: Department of Pathology, Nanjing Jinling Hospital, Nanjing University School of Medicine, Nanjing 210002, China.
authors.forename: Zhenfeng
authors.initials: Z
authors.lastname: Lu
authors.affiliation: Department of Pathology, Nanjing Jinling Hospital, Nanjing University School of Medicine, Nanjing 210002, China.
authors.forename: Xiaojun
authors.initials: X
authors.lastname: Zhou
authors.affiliation: Department of Pathology, Nanjing Jinling Hospital, Nanjing University School of Medicine, Nanjing 210002, China; E-mail: raoqiu1103@126.com.
authors.forename: Qiu
authors.initials: Q
authors.lastname: Rao
mesh_terms: D000328:Adult; D051778:Basic Helix-Loop-Helix Leucine Zipper Transcription Factors / Q000235:genetics; D002292:Carcinoma, Renal Cell / Q000235:genetics* / Q000473:pathology*; D002880:Chromosomes, Human, Pair 11; D002896:Chromosomes, Human, Pair 6; D003937:Diagnosis, Differential; D005260:Female; D050939:Gene Fusion; D015321:Gene Rearrangement; D052138:Genes, Neoplasm; D006801:Humans; D007150:Immunohistochemistry; D017404:In Situ Hybridization, Fluorescence; D007680:Kidney Neoplasms / Q000235:genetics* / Q000473:pathology*; D008297:Male; D011379:Prognosis; D062085:RNA, Long Noncoding / Q000235:genetics; D014178:Translocation, Genetic; D055815:Young Adult
chemical_list: D051778:Basic Helix-Loop-Helix Leucine Zipper Transcription Factors; C557041:MALAT1 long non-coding RNA, human; D062085:RNA, Long Noncoding; C064972:TFEB protein, human