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Rearrangement of 12q13

MedGen UID:
271080
•Concept ID:
C1514746
•
Cell or Molecular Dysfunction

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVRearrangement of 12q13

Professional guidelines

PubMed

The expression of MDM2/CDK4 gene product in the differential diagnosis of well differentiated liposarcoma and large deep-seated lipoma.
Pilotti S, Della Torre G, Mezzelani A, Tamborini E, Azzarelli A, Sozzi G, Pierotti MA
Br J Cancer 2000 Apr;82(7):1271-5. doi: 10.1054/bjoc.1999.1090. PMID: 10755400Free PMC Article

Recent clinical studies

Etiology

GLI1-Altered Soft Tissue Tumors of the Head and Neck: Frequent Oropharyngeal Involvement, p16 Immunoreactivity, and Detectable Alterations by DDIT3 Break Apart FISH.
Palsgrove DN, Rooper LM, Stevens TM, Shin C, Damm DD, Gagan J, Bridge JA, Thompson LDR, Koduru PR, Bishop JA
Head Neck Pathol 2022 Dec;16(4):1146-1156. Epub 2022 Aug 6 doi: 10.1007/s12105-022-01476-z. PMID: 35933574Free PMC Article
Integrated genomic and transcriptomic analysis revealed mutation patterns of de-differentiated liposarcoma and leiomyosarcoma.
Liu W, Tong H, Zhang C, Zhuang R, Guo H, Lv C, Yang H, Lin Q, Guo X, Wang Z, Wang Y, Shen F, Wang S, Dai C, Wang G, Liu J, Lu W, Zhang Y, Zhou Y
BMC Cancer 2020 Oct 28;20(1):1035. doi: 10.1186/s12885-020-07456-2. PMID: 33115433Free PMC Article
Role of the high mobility group A proteins in human lipomas.
Fedele M, Battista S, Manfioletti G, Croce CM, Giancotti V, Fusco A
Carcinogenesis 2001 Oct;22(10):1583-91. doi: 10.1093/carcin/22.10.1583. PMID: 11576996
Genetic basis of uterine leiomyoma: involvement of high mobility group protein genes.
Van de Ven WJ
Eur J Obstet Gynecol Reprod Biol 1998 Dec;81(2):289-93. doi: 10.1016/s0301-2115(98)00204-8. PMID: 9989879
Gene amplification in human gliomas.
Collins VP
Glia 1995 Nov;15(3):289-96. doi: 10.1002/glia.440150309. PMID: 8586464

Diagnosis

GLI1-Altered Soft Tissue Tumors of the Head and Neck: Frequent Oropharyngeal Involvement, p16 Immunoreactivity, and Detectable Alterations by DDIT3 Break Apart FISH.
Palsgrove DN, Rooper LM, Stevens TM, Shin C, Damm DD, Gagan J, Bridge JA, Thompson LDR, Koduru PR, Bishop JA
Head Neck Pathol 2022 Dec;16(4):1146-1156. Epub 2022 Aug 6 doi: 10.1007/s12105-022-01476-z. PMID: 35933574Free PMC Article
Extrapleural solitary fibrous tumor: A distinct entity from pleural solitary fibrous tumor. An update on clinical, molecular and diagnostic features.
Ronchi A, Cozzolino I, Zito Marino F, Accardo M, Montella M, Panarese I, Roccuzzo G, Toni G, Franco R, De Chiara A
Ann Diagn Pathol 2018 Jun;34:142-150. Epub 2018 Apr 9 doi: 10.1016/j.anndiagpath.2018.01.004. PMID: 29660566
Chondrosarcoma of the hyoid bone: Case report and review of the literature.
Amaral D, Zagalo C, Cardina C, Vera-Cruz P
Rev Laryngol Otol Rhinol (Bord) 2015;136(2):77-80. PMID: 27483580
STAT6 is amplified in a subset of dedifferentiated liposarcoma.
Doyle LA, Tao D, Mariño-Enríquez A
Mod Pathol 2014 Sep;27(9):1231-7. Epub 2014 Jan 24 doi: 10.1038/modpathol.2013.247. PMID: 24457460
Contributions of cytogenetics and molecular cytogenetics to the diagnosis of adipocytic tumors.
Nishio J
J Biomed Biotechnol 2011;2011:524067. Epub 2011 Jan 11 doi: 10.1155/2011/524067. PMID: 21274402Free PMC Article

Therapy

11p15 translocations involving the NUP98 gene in childhood therapy-related acute myeloid leukemia/myelodysplastic syndrome.
Nishiyama M, Arai Y, Tsunematsu Y, Kobayashi H, Asami K, Yabe M, Kato S, Oda M, Eguchi H, Ohki M, Kaneko Y
Genes Chromosomes Cancer 1999 Nov;26(3):215-20. PMID: 10502319
CDK4 gene amplification in osteosarcoma: reciprocal relationship with INK4A gene alterations and mapping of 12q13 amplicons.
Wei G, Lonardo F, Ueda T, Kim T, Huvos AG, Healey JH, Ladanyi M
Int J Cancer 1999 Jan 18;80(2):199-204. doi: 10.1002/(sici)1097-0215(19990118)80:2<199::aid-ijc7>3.0.co;2-4. PMID: 9935200
Regional cancer cytogenetics: a report on 1,143 diagnostic cases.
Perkins D, Brennan S, Carstairs K, Bailey D, Pantalony D, Poon A, Fernandes B, Dubé I
Cancer Genet Cytogenet 1997 Jul 1;96(1):64-80. doi: 10.1016/s0165-4608(96)00363-9. PMID: 9209473
Rearrangements of the high mobility group protein family genes and the molecular genetic origin of uterine leiomyomas and endometrial polyps.
Hennig Y, Wanschura S, Deichert U, Bartnitzke S, Bullerdiek J
Mol Hum Reprod 1996 Apr;2(4):277-83. doi: 10.1093/molehr/2.4.277. PMID: 9238692
Lipomas have characteristic structural chromosomal rearrangements of 12q13-q14.
Mandahl N, Heim S, Johansson B, Bennet K, Mertens F, Olsson G, Rööser B, Rydholm A, Willén H, Mitelman F
Int J Cancer 1987 Jun 15;39(6):685-8. doi: 10.1002/ijc.2910390605. PMID: 3473046

Prognosis

Integrated genomic and transcriptomic analysis revealed mutation patterns of de-differentiated liposarcoma and leiomyosarcoma.
Liu W, Tong H, Zhang C, Zhuang R, Guo H, Lv C, Yang H, Lin Q, Guo X, Wang Z, Wang Y, Shen F, Wang S, Dai C, Wang G, Liu J, Lu W, Zhang Y, Zhou Y
BMC Cancer 2020 Oct 28;20(1):1035. doi: 10.1186/s12885-020-07456-2. PMID: 33115433Free PMC Article
Extrapleural solitary fibrous tumor: A distinct entity from pleural solitary fibrous tumor. An update on clinical, molecular and diagnostic features.
Ronchi A, Cozzolino I, Zito Marino F, Accardo M, Montella M, Panarese I, Roccuzzo G, Toni G, Franco R, De Chiara A
Ann Diagn Pathol 2018 Jun;34:142-150. Epub 2018 Apr 9 doi: 10.1016/j.anndiagpath.2018.01.004. PMID: 29660566
MDM2 and CDK4 amplifications are rare events in salivary duct carcinomas.
Grünewald I, Trautmann M, Busch A, Bauer L, Huss S, Schweinshaupt P, Vollbrecht C, Odenthal M, Quaas A, Büttner R, Meyer MF, Beutner D, Hüttenbrink KB, Wardelmann E, Stenner M, Hartmann W
Oncotarget 2016 Nov 15;7(46):75261-75272. doi: 10.18632/oncotarget.12127. PMID: 27662657Free PMC Article
Coordinated expression and amplification of the MDM2, CDK4, and HMGI-C genes in atypical lipomatous tumours.
Dei Tos AP, Doglioni C, Piccinin S, Sciot R, Furlanetto A, Boiocchi M, Dal Cin P, Maestro R, Fletcher CD, Tallini G
J Pathol 2000 Apr;190(5):531-6. doi: 10.1002/(SICI)1096-9896(200004)190:5<531::AID-PATH579>3.0.CO;2-W. PMID: 10727978
Chromosomal abnormalities in leiomyosarcomas.
Sreekantaiah C, Davis JR, Sandberg AA
Am J Pathol 1993 Jan;142(1):293-305. PMID: 8424462Free PMC Article

Clinical prediction guides

Integrated genomic and transcriptomic analysis revealed mutation patterns of de-differentiated liposarcoma and leiomyosarcoma.
Liu W, Tong H, Zhang C, Zhuang R, Guo H, Lv C, Yang H, Lin Q, Guo X, Wang Z, Wang Y, Shen F, Wang S, Dai C, Wang G, Liu J, Lu W, Zhang Y, Zhou Y
BMC Cancer 2020 Oct 28;20(1):1035. doi: 10.1186/s12885-020-07456-2. PMID: 33115433Free PMC Article
Molecular cytogenetics of pediatric adipocytic tumors.
Dadone B, Refae S, Lemarié-Delaunay C, Bianchini L, Pedeutour F
Cancer Genet 2015 Oct;208(10):469-81. Epub 2015 Jun 26 doi: 10.1016/j.cancergen.2015.06.005. PMID: 26319758
Coordinated expression and amplification of the MDM2, CDK4, and HMGI-C genes in atypical lipomatous tumours.
Dei Tos AP, Doglioni C, Piccinin S, Sciot R, Furlanetto A, Boiocchi M, Dal Cin P, Maestro R, Fletcher CD, Tallini G
J Pathol 2000 Apr;190(5):531-6. doi: 10.1002/(SICI)1096-9896(200004)190:5<531::AID-PATH579>3.0.CO;2-W. PMID: 10727978
Genetic basis of uterine leiomyoma: involvement of high mobility group protein genes.
Van de Ven WJ
Eur J Obstet Gynecol Reprod Biol 1998 Dec;81(2):289-93. doi: 10.1016/s0301-2115(98)00204-8. PMID: 9989879
Chromosomal abnormalities in leiomyosarcomas.
Sreekantaiah C, Davis JR, Sandberg AA
Am J Pathol 1993 Jan;142(1):293-305. PMID: 8424462Free PMC Article

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