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t(1;13)

MedGen UID:
925476
•Concept ID:
C4287944
•
Cell or Molecular Dysfunction

Definition

A cytogenetic abnormality that involves a translocation between chromosomes 1 and 13. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVt(1;13)

Professional guidelines

PubMed

Aneuploid and unbalanced sperm in two translocation carriers: evaluation of the genetic risk.
Oliver-Bonet M, Navarro J, Carrera M, Egozcue J, Benet J
Mol Hum Reprod 2002 Oct;8(10):958-63. doi: 10.1093/molehr/8.10.958. PMID: 12356948
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

Recent clinical studies

Etiology

Repeatability and reproducibility of 3D MR fingerprinting relaxometry measurements in normal breast tissue.
Panda A, Chen Y, Ropella-Panagis K, Ghodasara S, Stopchinski M, Seyfried N, Wright K, Seiberlich N, Griswold M, Gulani V
J Magn Reson Imaging 2019 Oct;50(4):1133-1143. Epub 2019 Mar 20 doi: 10.1002/jmri.26717. PMID: 30892807Free PMC Article
Future directions in risk stratification and therapy for advanced pediatric genitourinary rhabdomyosarcoma.
Harel M, Ferrer FA, Shapiro LH, Makari JH
Urol Oncol 2016 Feb;34(2):103-15. Epub 2015 Oct 28 doi: 10.1016/j.urolonc.2015.09.013. PMID: 26519985
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
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

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
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
Intergroup Rhabdomyosarcoma Study: update for pathologists.
Qualman SJ, Coffin CM, Newton WA, Hojo H, Triche TJ, Parham DM, Crist WM
Pediatr Dev Pathol 1998 Nov-Dec;1(6):550-61. doi: 10.1007/s100249900076. PMID: 9724344
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

Therapy

Effectiveness of acceptance and commitment therapy on weight, eating behaviours and psychological outcomes: a systematic review and meta-analysis.
Chew HSJ, Chng S, Rajasegaran NN, Choy KH, Chong YY
Eat Weight Disord 2023 Feb 10;28(1):6. doi: 10.1007/s40519-023-01535-6. PMID: 36763199Free PMC Article
Improving radiographic patello-femoral tracking in total knee arthroplasty with the use of a flexion spacer: a case-control study.
D'Elicio DG, Attanasio M, Ruffo G, Mogos S, Ursino N, D'Ambrosi R, Parente F
Knee Surg Sports Traumatol Arthrosc 2021 Feb;29(2):586-593. Epub 2020 Apr 11 doi: 10.1007/s00167-020-05991-w. PMID: 32279109
A comparison between topical and retrobulbar anesthesia in 27-gauge vitrectomy for vitreous floaters: a randomized controlled trial.
Wu RH, Zhang R, Lin Z, Liang QH, Moonasar N
BMC Ophthalmol 2018 Jul 7;18(1):164. doi: 10.1186/s12886-018-0838-7. PMID: 29981573Free PMC Article
Childhood pre-B cell acute lymphoblastic leukemia with translocation t(1;19)(q21.1;p13.3) and two additional chromosomal aberrations involving chromosomes 1, 6, and 13: a case report.
Wafa A, As'sad M, Liehr T, Aljapawe A, Al Achkar W
J Med Case Rep 2017 Apr 7;11(1):94. doi: 10.1186/s13256-017-1251-1. PMID: 28385156Free PMC Article
Autonomic arousal and learning in Web-based simulation: a feasibility study.
Gorrindo T, Chevalier L, Goldfarb E, Hoeppner BB, Birnbaum RJ
J Contin Educ Health Prof 2014 Spring;34 Suppl 1:S17-22. doi: 10.1002/chp.21234. PMID: 24935879

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
Future directions in risk stratification and therapy for advanced pediatric genitourinary rhabdomyosarcoma.
Harel M, Ferrer FA, Shapiro LH, Makari JH
Urol Oncol 2016 Feb;34(2):103-15. Epub 2015 Oct 28 doi: 10.1016/j.urolonc.2015.09.013. PMID: 26519985
Alveolar rhabdomyosarcoma: is the cell of origin a mesenchymal stem cell?
Charytonowicz E, Cordon-Cardo C, Matushansky I, Ziman M
Cancer Lett 2009 Jul 8;279(2):126-36. Epub 2008 Nov 12 doi: 10.1016/j.canlet.2008.09.039. PMID: 19008039
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
Intergroup Rhabdomyosarcoma Study: update for pathologists.
Qualman SJ, Coffin CM, Newton WA, Hojo H, Triche TJ, Parham DM, Crist WM
Pediatr Dev Pathol 1998 Nov-Dec;1(6):550-61. doi: 10.1007/s100249900076. PMID: 9724344

Clinical prediction guides

Investigation of 13q14.3 deletion by cytogenetic analysis and FISH technique and miRNA-15a and miRNA-16-1 by real time PCR in chronic lymphocytic leukemia.
Yılmaz M, Kuru RD, Erdoğan I, Soysal T, Hacıhanefioglu S, Baykara O
Afr Health Sci 2022 Sep;22(3):173-182. doi: 10.4314/ahs.v22i3.20. PMID: 36910369Free PMC Article
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
Improving radiographic patello-femoral tracking in total knee arthroplasty with the use of a flexion spacer: a case-control study.
D'Elicio DG, Attanasio M, Ruffo G, Mogos S, Ursino N, D'Ambrosi R, Parente F
Knee Surg Sports Traumatol Arthrosc 2021 Feb;29(2):586-593. Epub 2020 Apr 11 doi: 10.1007/s00167-020-05991-w. PMID: 32279109
Can Differences in Early Hearing Development Be Distinguished by the LittlEARs Auditory Questionnaire?
Ganek H, James A, Papaioannou V, Gordon K
Ear Hear 2020 Jul/Aug;41(4):998-1008. doi: 10.1097/AUD.0000000000000821. PMID: 31923042
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

Recent systematic reviews

Effectiveness of acceptance and commitment therapy on weight, eating behaviours and psychological outcomes: a systematic review and meta-analysis.
Chew HSJ, Chng S, Rajasegaran NN, Choy KH, Chong YY
Eat Weight Disord 2023 Feb 10;28(1):6. doi: 10.1007/s40519-023-01535-6. PMID: 36763199Free PMC Article

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