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t(X;1)(p11.2;q21)

MedGen UID:
272973
•Concept ID:
C1515816
•
Cell or Molecular Dysfunction

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVt(X;1)(p11.2;q21)

Recent clinical studies

Diagnosis

Validation and utilization of a TFE3 break-apart FISH assay for Xp11.2 translocation renal cell carcinoma and alveolar soft part sarcoma.
Pradhan D, Roy S, Quiroga-Garza G, Cieply K, Mahaffey AL, Bastacky S, Dhir R, Parwani AV
Diagn Pathol 2015 Sep 29;10:179. doi: 10.1186/s13000-015-0412-z. PMID: 26415891Free PMC Article
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
PRCC-TFE3 renal carcinomas: morphologic, immunohistochemical, ultrastructural, and molecular analysis of an entity associated with the t(X;1)(p11.2;q21).
Argani P, Antonescu CR, Couturier J, Fournet JC, Sciot R, Debiec-Rychter M, Hutchinson B, Reuter VE, Boccon-Gibod L, Timmons C, Hafez N, Ladanyi M
Am J Surg Pathol 2002 Dec;26(12):1553-66. doi: 10.1097/00000478-200212000-00003. PMID: 12459622
Renal cell carcinoma with X;1 translocation in a child with Klinefelter syndrome.
Yenamandra A, Zhou X, Trinchitella L, Susin M, Sastry S, Mehta L
Am J Med Genet 1998 May 26;77(4):281-4. PMID: 9600736
Translocation (X;1) reveals metastasis 31 years after renal cell carcinoma.
Dal Cin P, Stas M, Sciot R, De Wever I, Van Damme B, Van den Berghe H
Cancer Genet Cytogenet 1998 Feb;101(1):58-61. doi: 10.1016/s0165-4608(97)00063-0. PMID: 9460502

Prognosis

The t(X;1)(p11.2;q21.2) translocation in papillary renal cell carcinoma fuses a novel gene PRCC to the TFE3 transcription factor gene.
Sidhar SK, Clark J, Gill S, Hamoudi R, Crew AJ, Gwilliam R, Ross M, Linehan WM, Birdsall S, Shipley J, Cooper CS
Hum Mol Genet 1996 Sep;5(9):1333-8. doi: 10.1093/hmg/5.9.1333. PMID: 8872474

Clinical prediction guides

Two new cases of papillary renal cell carcinoma with t(X;1)(p11;q21) in females.
Pérot C, Bougaran J, Boccon-Gibod L, Störkel S, Leverger G, van den Akker J, Taillemite JL, Couturier J
Cancer Genet Cytogenet 1999 Apr;110(1):54-6. doi: 10.1016/s0165-4608(98)00181-2. PMID: 10198623
The t(X;1)(p11.2;q21.2) translocation in papillary renal cell carcinoma fuses a novel gene PRCC to the TFE3 transcription factor gene.
Sidhar SK, Clark J, Gill S, Hamoudi R, Crew AJ, Gwilliam R, Ross M, Linehan WM, Birdsall S, Shipley J, Cooper CS
Hum Mol Genet 1996 Sep;5(9):1333-8. doi: 10.1093/hmg/5.9.1333. PMID: 8872474
Translocation (X;1) in papillary renal cell carcinoma. A new cytogenetic subtype.
Meloni AM, Dobbs RM, Pontes JE, Sandberg AA
Cancer Genet Cytogenet 1993 Jan;65(1):1-6. doi: 10.1016/0165-4608(93)90050-v. PMID: 8431910

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