12q13-15 amplification

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

• well-differentiated liposarcoma and dedifferentiated liposarcoma group (WDLPS/DDLPS group) (17001166, 14694526, 11369052)

 intimal sarcoma

• Example: Pulmonary artery intimal sarcoma with MDM2 amplification
• https://twitter.com/AnneMillsMD/status/827558368923549696

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

 glial tumors

• glioblastoma multiforme (17002787)
• low-grade astrocytic gliomas (16319692)

 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