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12q13-15 amplification

Friday 1 June 2007

Definition: Amplification of the 12q13-15 region is a common event in several human tumors including liposarcomas, gliomas, osteosarcomas and melanomas.

See also

- MDM2 amplification
- CDK4 amplification

Tumors

- adipocytic tumors : liposarcomas

- intimal sarcoma

- nonchondroid pulmonary hamartoma preceding a well-differentiated liposarcoma (17001166)

- glial tumors

- malignant melanoma
- rhabdomyosarcomas
- osteosarcomas (9935200)
- melanomas (16419059)
- rhabdomyosarcomas
- osteosarcomas (9935200)

Nota benè: The characteristic supernumerary rings and giant chromosomes of well-differentiated and dedifferentiated liposarcomas (WDLPS/DDLPS) are composed of amplified material from chromosome 12q13-15.

Driver genes (centromere to telomere)

- GLI
- DDIT3
- TSPAN31
- CDK4
- HMGA2
- DYRK2
- MDM2
- YEATS4

See also

- regional amplifications

  • 12q13 amplification

- CDK4-TSPAN31 amplicon
- HMGA2-MDM2 amplicon

References

- Ruano Y, Mollejo M, Ribalta T, Fiano C, Camacho FI, Gomez E, de Lope AR, Hernandez-Moneo JL, Martinez P, Melendez B. Identification of novel candidate target genes in amplicons of Glioblastoma multiforme tumors detected by expression and CGH microarray profiling. Mol Cancer. 2006 Sep 26;5:39. PMID: 17002787

- Arjona D, Bello MJ, Alonso ME, Isla A, De Campos JM, Vaquero J, Sarasa JL, Gutierrez M, Rey JA. Real-time quantitative PCR analysis of regions involved in gene amplification reveals gene overdose in low-grade astrocytic gliomas. Diagn Mol Pathol. 2005 Dec;14(4):224-9. PMID: 16319692

- Sirvent N, Coindre JM, Maire G, Hostein I, Keslair F, Guillou L, Ranchere-Vince D, Terrier P, Pedeutour F. Detection of MDM2-CDK4 Amplification by Fluorescence In Situ Hybridization in 200 Paraffin-embedded Tumor Samples: Utility in Diagnosing Adipocytic Lesions and Comparison With Immunohistochemistry and Real-time PCR. Am J Surg Pathol. 2007 Oct;31(10):1476-1489. PMID: 17895748

- Muthusamy V, Hobbs C, Nogueira C, Cordon-Cardo C, McKee PH, Chin L, Bosenberg MW. Amplification of CDK4 and MDM2 in malignant melanoma. Genes Chromosomes Cancer. 2006 May;45(5):447-54. PMID: 16419059