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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

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

Kaur K, Gami A, Shah A, Gandhi J, Trivedi P
Turk Patoloji Derg 2024;40(2):89-100. doi: 10.5146/tjpath.2023.01605. PMID: 37218666Free PMC Article
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
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

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
Aulmann S, Longerich T, Schirmacher P, Mechtersheimer G, Penzel R
Histopathology 2007 Jun;50(7):881-6. doi: 10.1111/j.1365-2559.2007.02693.x. PMID: 17543078
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
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
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

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
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

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
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
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

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
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
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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