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Renal cell carcinoma associated with Xp11.2 translocations/TFE3 gene fusions

MedGen UID:
235005
•Concept ID:
C1337036
•
Neoplastic Process
Synonyms: renal cell cancer associated with Xp11.2 translocations/TFE3 Gene fusions; Renal Cell Carcinoma Associated with Xp11.2 Translocations/TFE3 Gene Fusions; renal cell carcinoma associated with Xp11.2 translocations/TFE3 gene fusions; TFE3-Rearranged Renal Cell Carcinoma; TFE3-Rearranged renal cell carcinoma; translocation-associated renal cell carcinoma; tRCC; Xp11 Translocation Renal Cell Carcinoma; Xp11.2 Translocation-Related Renal Cell Carcinoma; Xp11.2 translocation-related renal cell carcinoma
 
Monarch Initiative: MONDO:0006397

Definition

A group of renal cell carcinomas characterized by the presence of different translocations involving the chromosome Xp11.2. These translocations result in the creation of gene fusions involving the TFE3 gene. Patients are usually children and young adults. Morphologically, the malignant epithelial cells form papillary patterns. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVRenal cell carcinoma associated with Xp11.2 translocations/TFE3 gene fusions

Recent clinical studies

Etiology

Biological characteristics of pediatric renal cell carcinoma associated with Xp11.2 translocations/TFE3 gene fusions.
Song HC, Sun N, Zhang WP, He L, Fu L, Huang C
J Pediatr Surg 2014 Apr;49(4):539-42. Epub 2013 Oct 17 doi: 10.1016/j.jpedsurg.2013.10.005. PMID: 24726108

Diagnosis

Adult-onset renal cell carcinoma associated with Xp11.2 translocation/TFE3 gene fusion: 3 case reports and review of literature.
Gong P, Zhuang Q, Wang K, Xu R, Chen Y, Wang X, Yin S
Medicine (Baltimore) 2018 Jun;97(24):e11023. doi: 10.1097/MD.0000000000011023. PMID: 29901594Free PMC Article
Cytologic Features of Renal Carcinoma Associated with Xp11.2 Translocations/ TFE3 Gene Fusions: A Case Report with Voided and Catheterized Urine Cytology and a Literature Review.
Kuwamoto S, Murai Y, Endo Y, Masago T, Kuroda N, Horie Y
Acta Cytol 2014;58(4):406-12. Epub 2014 Sep 6 doi: 10.1159/000366406. PMID: 25227872
Biological characteristics of pediatric renal cell carcinoma associated with Xp11.2 translocations/TFE3 gene fusions.
Song HC, Sun N, Zhang WP, He L, Fu L, Huang C
J Pediatr Surg 2014 Apr;49(4):539-42. Epub 2013 Oct 17 doi: 10.1016/j.jpedsurg.2013.10.005. PMID: 24726108
Renal carcinomas associated with Xp11.2 translocations/TFE3 gene fusions: findings on MRI and computed tomography imaging.
Liu K, Xie P, Peng W, Zhou Z
J Magn Reson Imaging 2014 Aug;40(2):440-7. Epub 2013 Oct 17 doi: 10.1002/jmri.24349. PMID: 24136829
Review of renal carcinoma associated with Xp11.2 translocations/TFE3 gene fusions with focus on pathobiological aspect.
Kuroda N, Mikami S, Pan CC, Cohen RJ, Hes O, Michal M, Nagashima Y, Tanaka Y, Inoue K, Shuin T, Lee GH
Histol Histopathol 2012 Feb;27(2):133-40. doi: 10.14670/HH-27.133. PMID: 22207547

Prognosis

Adult-onset renal cell carcinoma associated with Xp11.2 translocation/TFE3 gene fusion: 3 case reports and review of literature.
Gong P, Zhuang Q, Wang K, Xu R, Chen Y, Wang X, Yin S
Medicine (Baltimore) 2018 Jun;97(24):e11023. doi: 10.1097/MD.0000000000011023. PMID: 29901594Free PMC Article
Cytologic Features of Renal Carcinoma Associated with Xp11.2 Translocations/ TFE3 Gene Fusions: A Case Report with Voided and Catheterized Urine Cytology and a Literature Review.
Kuwamoto S, Murai Y, Endo Y, Masago T, Kuroda N, Horie Y
Acta Cytol 2014;58(4):406-12. Epub 2014 Sep 6 doi: 10.1159/000366406. PMID: 25227872
Biological characteristics of pediatric renal cell carcinoma associated with Xp11.2 translocations/TFE3 gene fusions.
Song HC, Sun N, Zhang WP, He L, Fu L, Huang C
J Pediatr Surg 2014 Apr;49(4):539-42. Epub 2013 Oct 17 doi: 10.1016/j.jpedsurg.2013.10.005. PMID: 24726108

Clinical prediction guides

Cytologic Features of Renal Carcinoma Associated with Xp11.2 Translocations/ TFE3 Gene Fusions: A Case Report with Voided and Catheterized Urine Cytology and a Literature Review.
Kuwamoto S, Murai Y, Endo Y, Masago T, Kuroda N, Horie Y
Acta Cytol 2014;58(4):406-12. Epub 2014 Sep 6 doi: 10.1159/000366406. PMID: 25227872
Review of renal carcinoma associated with Xp11.2 translocations/TFE3 gene fusions with focus on pathobiological aspect.
Kuroda N, Mikami S, Pan CC, Cohen RJ, Hes O, Michal M, Nagashima Y, Tanaka Y, Inoue K, Shuin T, Lee GH
Histol Histopathol 2012 Feb;27(2):133-40. doi: 10.14670/HH-27.133. PMID: 22207547
Diagnostic pitfall on the histological spectrum of adult-onset renal carcinoma associated with Xp11.2 translocations/TFE3 gene fusions.
Kuroda N, Katto K, Tanaka Y, Yamaguchi T, Inoue K, Ohara M, Mizuno K, Hes O, Michal M, Lee GH
Med Mol Morphol 2010 Jun;43(2):86-90. Epub 2010 Aug 4 doi: 10.1007/s00795-008-0423-x. PMID: 20683695
Adult-onset renal cell carcinoma associated with Xp11.2 translocations/TFE3 gene fusion with smooth muscle stroma and abnormal vessels.
Kuroda N, Tamura M, Tanaka Y, Hes O, Michal M, Inoue K, Ohara M, Mizuno K, Lee GH
Pathol Int 2009 Jul;59(7):486-91. doi: 10.1111/j.1440-1827.2009.02398.x. PMID: 19563413

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