title: MDM2 amplification in a primary alveolar rhabdomyosarcoma displaying a t(2;13)(q35;q14).
abstract: This report describes a case of rhabdomyosarcoma associated with a 2;13 translocation and multiple double minute chromosomes. The origin of the amplified DNA was identified using comparative genomic hybridization, which pinpointed a unique spot at 12q13-->q14. Band 12q13 has been shown to contain several genes that are occasionally amplified in other sarcomas. Fluorescene in situ hybridization to tumor metaphases with probes specific for this region indicated that the double minutes contained the MDM2 gene but not the CDK4 gene. MDM2 amplification was further quantified by Southern hybridization, which showed a mean value of 25 copies per haploid genome. This is the first example of MDM2 amplification in a rhabdomyosarcoma.
authors: Laboratoire de Cytogénétique et Génétique Oncologiques, CNRS URA 1967, Villejuif, France.
authors: M
authors: M
authors: Meddeb
authors: A
authors: A
authors: Valent
authors: G
authors: G
authors: Danglot
authors: V C
authors: VC
authors: Nguyen
authors: A
authors: A
authors: Duverger
authors: F
authors: F
authors: Fouquet
authors: M J
authors: MJ
authors: Terrier-Lacombe
authors: O
authors: O
authors: Oberlin
authors: A
authors: A
authors: Bernheim
mesh_terms: D000293:Adolescent; D001859:Bone Neoplasms / Q000235:genetics / Q000473:pathology / Q000556:secondary; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics*; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D018450:Disease Progression; D005784:Gene Amplification; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008207:Lymphatic Metastasis / Q000235:genetics; D008297:Male; D009363:Neoplasm Proteins / Q000235:genetics*; D009687:Nuclear Proteins; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D051736:Proto-Oncogene Proteins c-mdm2; D018232:Rhabdomyosarcoma, Alveolar / Q000235:genetics* / Q000473:pathology / Q000556:secondary; D012983:Soft Tissue Neoplasms / Q000235:genetics* / Q000473:pathology; D013848:Thigh; D014178:Translocation, Genetic
chemical_list: D009363:Neoplasm Proteins; D009687:Nuclear Proteins; D011518:Proto-Oncogene Proteins; C497206:MDM2 protein, human; D051736:Proto-Oncogene Proteins c-mdm2