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t(2;13)(q35;q14)

MedGen UID:
271875
•Concept ID:
C1515752
•
Cell or Molecular Dysfunction

Definition

A chromosomal translocation involving the PAX3 gene on chromosome 2q35 and the FOXO1 gene on chromosome 13q14. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVt(2;13)(q35;q14)

Professional guidelines

PubMed

Soft tissue sarcoma in children: prognosis and management.
Koscielniak E, Morgan M, Treuner J
Paediatr Drugs 2002;4(1):21-8. doi: 10.2165/00128072-200204010-00003. PMID: 11817983
Assessment of molecular genetic detection of chromosome translocations in the differential diagnosis of pediatric sarcomas.
Dockhorn-Dworniczak B, Schäfer KL, Blasius S, Christiansen H, Koscielniak E, Ritter J, Winkelmann W, Jürgens H, Böcker W
Klin Padiatr 1997 Jul-Aug;209(4):156-64. doi: 10.1055/s-2008-1043964. PMID: 9293447
Multiplex RT-PCR assay for the differential diagnosis of alveolar rhabdomyosarcoma and Ewing's sarcoma.
Downing JR, Khandekar A, Shurtleff SA, Head DR, Parham DM, Webber BL, Pappo AS, Hulshof MG, Conn WP, Shapiro DN
Am J Pathol 1995 Mar;146(3):626-34. PMID: 7887445Free PMC Article

Recent clinical studies

Etiology

Genes, chromosomes, and rhabdomyosarcoma.
Anderson J, Gordon A, Pritchard-Jones K, Shipley J
Genes Chromosomes Cancer 1999 Dec;26(4):275-85. PMID: 10534762
The role of cytogenetics in the classification of soft tissue tumours.
Dei Tos AP, Dal Cin P
Virchows Arch 1997 Aug;431(2):83-94. doi: 10.1007/s004280050073. PMID: 9293889
Detection of the t(2;13) chromosomal translocation in alveolar rhabdomyosarcoma using the reverse transcriptase-polymerase chain reaction.
Arden KC, Anderson MJ, Finckenstein FG, Czekay S, Cavenee WK
Genes Chromosomes Cancer 1996 Aug;16(4):254-60. doi: 10.1002/(SICI)1098-2264(199608)16:4<254::AID-GCC5>3.0.CO;2-X. PMID: 8875239
Biology and therapy of pediatric rhabdomyosarcoma.
Pappo AS, Shapiro DN, Crist WM, Maurer HM
J Clin Oncol 1995 Aug;13(8):2123-39. doi: 10.1200/JCO.1995.13.8.2123. PMID: 7636557
Fusion of PAX7 to FKHR by the variant t(1;13)(p36;q14) translocation in alveolar rhabdomyosarcoma.
Davis RJ, D'Cruz CM, Lovell MA, Biegel JA, Barr FG
Cancer Res 1994 Jun 1;54(11):2869-72. PMID: 8187070

Diagnosis

Molecular biology of rhabdomyosarcoma.
Gallego Melcón S, Sánchez de Toledo Codina J
Clin Transl Oncol 2007 Jul;9(7):415-9. doi: 10.1007/s12094-007-0079-3. PMID: 17652054
Fusions involving PAX and FOX genes in the molecular pathogenesis of alveolar rhabdomyosarcoma: recent advances.
Mercado GE, Barr FG
Curr Mol Med 2007 Feb;7(1):47-61. doi: 10.2174/156652407779940440. PMID: 17311532
The role of cytogenetics in the classification of soft tissue tumours.
Dei Tos AP, Dal Cin P
Virchows Arch 1997 Aug;431(2):83-94. doi: 10.1007/s004280050073. PMID: 9293889
Interphase fluorescence in situ hybridization detection of t(2;13)(q35;q14) in alveolar rhabdomyosarcoma--a diagnostic tool in minimally invasive biopsies.
McManus AP, O'Reilly MA, Jones KP, Gusterson BA, Mitchell CD, Pinkerton CR, Shipley JM
J Pathol 1996 Apr;178(4):410-4. doi: 10.1002/(SICI)1096-9896(199604)178:4<410::AID-PATH508>3.0.CO;2-A. PMID: 8691319
Biology and therapy of pediatric rhabdomyosarcoma.
Pappo AS, Shapiro DN, Crist WM, Maurer HM
J Clin Oncol 1995 Aug;13(8):2123-39. doi: 10.1200/JCO.1995.13.8.2123. PMID: 7636557

Therapy

Therapeutic Approaches Targeting PAX3-FOXO1 and Its Regulatory and Transcriptional Pathways in Rhabdomyosarcoma.
Nguyen TH, Barr FG
Molecules 2018 Oct 28;23(11) doi: 10.3390/molecules23112798. PMID: 30373318Free PMC Article
Biology and therapy of pediatric rhabdomyosarcoma.
Pappo AS, Shapiro DN, Crist WM, Maurer HM
J Clin Oncol 1995 Aug;13(8):2123-39. doi: 10.1200/JCO.1995.13.8.2123. PMID: 7636557
A disseminated alveolar rhabdomyosarcoma in a 9-year-old boy disclosed by chromosomal translocation (2;13) (q35;q14).
Brichard B, Ninane J, Gosseye S, Verellen-Dumoulin C, Vermylen C, Rodhain J, Cornu G
Pediatr Hematol Oncol 1991 Jul-Sep;8(3):215-9. doi: 10.3109/08880019109033454. PMID: 1742179

Prognosis

Immunohistochemical detection of PAX-FOXO1 fusion proteins in alveolar rhabdomyosarcoma using breakpoint specific monoclonal antibodies.
Azorsa DO, Bode PK, Wachtel M, Cheuk ATC, Meltzer PS, Vokuhl C, Camenisch U, Khov HL, Bode B, Schäfer BW, Khan J
Mod Pathol 2021 Apr;34(4):748-757. Epub 2020 Dec 9 doi: 10.1038/s41379-020-00719-0. PMID: 33299109Free PMC Article
Fusions involving PAX and FOX genes in the molecular pathogenesis of alveolar rhabdomyosarcoma: recent advances.
Mercado GE, Barr FG
Curr Mol Med 2007 Feb;7(1):47-61. doi: 10.2174/156652407779940440. PMID: 17311532
Immunohistochemical and molecular genetic approaches to soft tissue tumor diagnosis: a primer.
Hibshoosh H, Lattes R
Semin Oncol 1997 Oct;24(5):515-25. PMID: 9344317
Detection of the t(2;13) chromosomal translocation in alveolar rhabdomyosarcoma using the reverse transcriptase-polymerase chain reaction.
Arden KC, Anderson MJ, Finckenstein FG, Czekay S, Cavenee WK
Genes Chromosomes Cancer 1996 Aug;16(4):254-60. doi: 10.1002/(SICI)1098-2264(199608)16:4<254::AID-GCC5>3.0.CO;2-X. PMID: 8875239
Biology and therapy of pediatric rhabdomyosarcoma.
Pappo AS, Shapiro DN, Crist WM, Maurer HM
J Clin Oncol 1995 Aug;13(8):2123-39. doi: 10.1200/JCO.1995.13.8.2123. PMID: 7636557

Clinical prediction guides

Immunohistochemical detection of PAX-FOXO1 fusion proteins in alveolar rhabdomyosarcoma using breakpoint specific monoclonal antibodies.
Azorsa DO, Bode PK, Wachtel M, Cheuk ATC, Meltzer PS, Vokuhl C, Camenisch U, Khov HL, Bode B, Schäfer BW, Khan J
Mod Pathol 2021 Apr;34(4):748-757. Epub 2020 Dec 9 doi: 10.1038/s41379-020-00719-0. PMID: 33299109Free PMC Article
Myeloid- and lymphoid-specific breakpoint cluster regions in chromosome band 13q14 in acute leukemia.
Coignet LJ, Lima CS, Min T, Streubel B, Swansbury J, Telford N, Swanton S, Bowen A, Nagai M, Catovsky D, Fonatsch C, Dyer MJ
Genes Chromosomes Cancer 1999 Jul;25(3):222-9. doi: 10.1002/(sici)1098-2264(199907)25:3<222::aid-gcc4>3.0.co;2-c. PMID: 10379868
Regulated expression of the diphtheria toxin A chain by a tumor-specific chimeric transcription factor results in selective toxicity for alveolar rhabdomyosarcoma cells.
Massuda ES, Dunphy EJ, Redman RA, Schreiber JJ, Nauta LE, Barr FG, Maxwell IH, Cripe TP
Proc Natl Acad Sci U S A 1997 Dec 23;94(26):14701-6. doi: 10.1073/pnas.94.26.14701. PMID: 9405676Free PMC Article
The role of cytogenetics in the classification of soft tissue tumours.
Dei Tos AP, Dal Cin P
Virchows Arch 1997 Aug;431(2):83-94. doi: 10.1007/s004280050073. PMID: 9293889
Cloning and characterization of AFX, the gene that fuses to MLL in acute leukemias with a t(X;11)(q13;q23).
Borkhardt A, Repp R, Haas OA, Leis T, Harbott J, Kreuder J, Hammermann J, Henn T, Lampert F
Oncogene 1997 Jan 16;14(2):195-202. doi: 10.1038/sj.onc.1200814. PMID: 9010221

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