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t(X;1)(p11.2;p34)

MedGen UID:
273763
•Concept ID:
C1515815
•
Cell or Molecular Dysfunction

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVt(X;1)(p11.2;p34)

Recent clinical studies

Etiology

Secondary PSF/TFE3-associated renal cell carcinoma in a child treated for genitourinary rhabdomyosarcoma.
Brassesco MS, Valera ET, Bonilha TA, Scrideli CA, Carvalho de Oliveira J, Pezuk JA, Barros Silva GE, Costa RS, Tone LG
Cancer Genet 2011 Feb;204(2):108-10. doi: 10.1016/j.cancergencyto.2010.10.006. PMID: 21504709

Diagnosis

A novel case of t(X;1)(p11.2;p34) in a renal cell carcinoma with TFE3 rearrangement and favorable outcome in a 57-year-old patient.
Haudebourg J, Hoch B, Fabas T, Burel-Vandenbos F, Carpentier X, Amiel J, Cardot-Leccia N, Michiels JF, Pedeutour F
Cancer Genet Cytogenet 2010 Jul 15;200(2):75-8. doi: 10.1016/j.cancergencyto.2010.03.011. PMID: 20620589
Cytogenetic and molecular findings in 75 clear cell renal cell carcinomas.
Kardas I, Mrózek K, Babinska M, Krajka K, Hadaczek P, Lubinski J, Roszkiewicz A, Kuziemska E, Limon J
Oncol Rep 2005 May;13(5):949-56. PMID: 15809763
A unique case of renal carcinoma with Xp11.2 translocations/ TFE3 gene fusions in a 3-year-old child, with coexistent von Hippel-Lindau gene mutation.
Parast MM, Eudy G, Gow KW, Amin M, Shehata B
Pediatr Dev Pathol 2004 Jul-Aug;7(4):403-6. Epub 2004 Jul 15 doi: 10.1007/s10024-004-1018-8. PMID: 15383938

Therapy

Therapeutic Targeting of TFE3/IRS-1/PI3K/mTOR Axis in Translocation Renal Cell Carcinoma.
Damayanti NP, Budka JA, Khella HWZ, Ferris MW, Ku SY, Kauffman E, Wood AC, Ahmed K, Chintala VN, Adelaiye-Ogala R, Elbanna M, Orillion A, Chintala S, Kao C, Linehan WM, Yousef GM, Hollenhorst PC, Pili R
Clin Cancer Res 2018 Dec 1;24(23):5977-5989. Epub 2018 Jul 30 doi: 10.1158/1078-0432.CCR-18-0269. PMID: 30061365Free PMC Article

Prognosis

A novel case of t(X;1)(p11.2;p34) in a renal cell carcinoma with TFE3 rearrangement and favorable outcome in a 57-year-old patient.
Haudebourg J, Hoch B, Fabas T, Burel-Vandenbos F, Carpentier X, Amiel J, Cardot-Leccia N, Michiels JF, Pedeutour F
Cancer Genet Cytogenet 2010 Jul 15;200(2):75-8. doi: 10.1016/j.cancergencyto.2010.03.011. PMID: 20620589

Clinical prediction guides

A novel case of t(X;1)(p11.2;p34) in a renal cell carcinoma with TFE3 rearrangement and favorable outcome in a 57-year-old patient.
Haudebourg J, Hoch B, Fabas T, Burel-Vandenbos F, Carpentier X, Amiel J, Cardot-Leccia N, Michiels JF, Pedeutour F
Cancer Genet Cytogenet 2010 Jul 15;200(2):75-8. doi: 10.1016/j.cancergencyto.2010.03.011. PMID: 20620589
Fusion of splicing factor genes PSF and NonO (p54nrb) to the TFE3 gene in papillary renal cell carcinoma.
Clark J, Lu YJ, Sidhar SK, Parker C, Gill S, Smedley D, Hamoudi R, Linehan WM, Shipley J, Cooper CS
Oncogene 1997 Oct;15(18):2233-9. doi: 10.1038/sj.onc.1201394. PMID: 9393982

Supplemental Content

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