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t(X;17)(p11.2;q25)

MedGen UID:
273762
•Concept ID:
C1515813
•
Cell or Molecular Dysfunction
Synonym: t(X;17)(p11;q25)

Definition

A chromosomal translocation involving the TFE3 gene on chromosome Xp11.2 and the ASPSCR1 gene on chromosome 17q25. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVt(X;17)(p11.2;q25)

Professional guidelines

PubMed

Advances in treatment of alveolar soft part sarcoma: an updated review.
Fujiwara T, Kunisada T, Nakata E, Nishida K, Yanai H, Nakamura T, Tanaka K, Ozaki T
Jpn J Clin Oncol 2023 Nov 5;53(11):1009-1018. doi: 10.1093/jjco/hyad102. PMID: 37626447Free PMC Article

Recent clinical studies

Etiology

High-resolution array CGH and gene expression profiling of alveolar soft part sarcoma.
Selvarajah S, Pyne S, Chen E, Sompallae R, Ligon AH, Nielsen GP, Dranoff G, Stack E, Loda M, Flavin R
Clin Cancer Res 2014 Mar 15;20(6):1521-30. Epub 2014 Feb 3 doi: 10.1158/1078-0432.CCR-13-2090. PMID: 24493828Free PMC Article
Renal-cell carcinoma in children: a different disorder from its adult counterpart?
Carcao MD, Taylor GP, Greenberg ML, Bernstein ML, Champagne M, Hershon L, Baruchel S
Med Pediatr Oncol 1998 Sep;31(3):153-8. doi: 10.1002/(sici)1096-911x(199809)31:3<153::aid-mpo5>3.0.co;2-a. PMID: 9722897

Diagnosis

Advances in treatment of alveolar soft part sarcoma: an updated review.
Fujiwara T, Kunisada T, Nakata E, Nishida K, Yanai H, Nakamura T, Tanaka K, Ozaki T
Jpn J Clin Oncol 2023 Nov 5;53(11):1009-1018. doi: 10.1093/jjco/hyad102. PMID: 37626447Free PMC Article
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
Renal cell carcinoma with t(X;17)(p11.2;q25) in a 6-year-old Taiwanese boy.
Chen CK, Hsueh C, Lai JY, Hung IJ, Whang-Peng J, Wang WP, Lai HY, Chen JR
Virchows Arch 2007 Feb;450(2):215-9. doi: 10.1007/s00428-006-0337-8. PMID: 17149613
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
The der(17)t(X;17)(p11;q25) of human alveolar soft part sarcoma fuses the TFE3 transcription factor gene to ASPL, a novel gene at 17q25.
Ladanyi M, Lui MY, Antonescu CR, Krause-Boehm A, Meindl A, Argani P, Healey JH, Ueda T, Yoshikawa H, Meloni-Ehrig A, Sorensen PH, Mertens F, Mandahl N, van den Berghe H, Sciot R, Dal Cin P, Bridge J
Oncogene 2001 Jan 4;20(1):48-57. doi: 10.1038/sj.onc.1204074. PMID: 11244503

Therapy

A Phase II Trial of Pazopanib in Patients with Metastatic Alveolar Soft Part Sarcoma.
Kim M, Kim TM, Keam B, Kim YJ, Paeng JC, Moon KC, Kim DW, Heo DS
Oncologist 2019 Jan;24(1):20-e29. Epub 2018 Sep 25 doi: 10.1634/theoncologist.2018-0464. PMID: 30254189Free PMC Article
Cytogenetics of a renal cell carcinoma in a 17-month-old child. Evidence for Xp11.2 as a recurring breakpoint.
Tomlinson GE, Nisen PD, Timmons CF, Schneider NR
Cancer Genet Cytogenet 1991 Nov;57(1):11-7. doi: 10.1016/0165-4608(91)90184-v. PMID: 1684532

Prognosis

High-resolution array CGH and gene expression profiling of alveolar soft part sarcoma.
Selvarajah S, Pyne S, Chen E, Sompallae R, Ligon AH, Nielsen GP, Dranoff G, Stack E, Loda M, Flavin R
Clin Cancer Res 2014 Mar 15;20(6):1521-30. Epub 2014 Feb 3 doi: 10.1158/1078-0432.CCR-13-2090. PMID: 24493828Free PMC Article
Alveolar soft part sarcoma: a bimarker diagnostic strategy using TFE3 immunoassay and ASPL-TFE3 fusion transcripts in paraffin-embedded tumor tissues.
Pang LJ, Chang B, Zou H, Qi Y, Jiang JF, Li HA, Hu WH, Chen YZ, Liu CX, Zhang WJ, Li F
Diagn Mol Pathol 2008 Dec;17(4):245-52. doi: 10.1097/PDM.0b013e31815d68d7. PMID: 18382356
The der(17)t(X;17)(p11;q25) of human alveolar soft part sarcoma fuses the TFE3 transcription factor gene to ASPL, a novel gene at 17q25.
Ladanyi M, Lui MY, Antonescu CR, Krause-Boehm A, Meindl A, Argani P, Healey JH, Ueda T, Yoshikawa H, Meloni-Ehrig A, Sorensen PH, Mertens F, Mandahl N, van den Berghe H, Sciot R, Dal Cin P, Bridge J
Oncogene 2001 Jan 4;20(1):48-57. doi: 10.1038/sj.onc.1204074. PMID: 11244503

Clinical prediction guides

High-resolution array CGH and gene expression profiling of alveolar soft part sarcoma.
Selvarajah S, Pyne S, Chen E, Sompallae R, Ligon AH, Nielsen GP, Dranoff G, Stack E, Loda M, Flavin R
Clin Cancer Res 2014 Mar 15;20(6):1521-30. Epub 2014 Feb 3 doi: 10.1158/1078-0432.CCR-13-2090. PMID: 24493828Free PMC Article
Alveolar soft part sarcoma: a bimarker diagnostic strategy using TFE3 immunoassay and ASPL-TFE3 fusion transcripts in paraffin-embedded tumor tissues.
Pang LJ, Chang B, Zou H, Qi Y, Jiang JF, Li HA, Hu WH, Chen YZ, Liu CX, Zhang WJ, Li F
Diagn Mol Pathol 2008 Dec;17(4):245-52. doi: 10.1097/PDM.0b013e31815d68d7. PMID: 18382356
The der(17)t(X;17)(p11;q25) of human alveolar soft part sarcoma fuses the TFE3 transcription factor gene to ASPL, a novel gene at 17q25.
Ladanyi M, Lui MY, Antonescu CR, Krause-Boehm A, Meindl A, Argani P, Healey JH, Ueda T, Yoshikawa H, Meloni-Ehrig A, Sorensen PH, Mertens F, Mandahl N, van den Berghe H, Sciot R, Dal Cin P, Bridge J
Oncogene 2001 Jan 4;20(1):48-57. doi: 10.1038/sj.onc.1204074. PMID: 11244503

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