The SALSA MLPA Probemix P323 CDK4-HMGA2-MDM2 is a research use only (RUO)
assay for the detection of copy number alterations of CDK4
and other genes on chromosome 12.
Alterations of the CDK4
genes are suggested to be of diagnostic, clinical and/or prognostic relevance in liposarcoma, osteosarcoma, rhabdomyosarcoma, adenomas and carcinomas of the salivary gland, and in pituitary adenomas. In well-differentiated (WDLPS) and dedifferentiated (DDLPS) types of liposarcomas, the MDM2
genes are recurrently amplified, which can differentiate them from benign lipomas (Italiano et al. 2008). DDLPS and WDLPS patients with only HMGA2-MDM2
amplification are suggested to have a favourable prognosis compared to patients with both HMGA2-MDM2
amplifications (Italiano et al. 2009). In osteosarcoma (OS), MDM2-CDK4
amplification can be used in differential diagnostics, as it seems to be most prevalent in parosteal OS (Mejia-Guerrero et al. 2010). Amplifications of the 12q13-14 region (including the GLI1
genes) are common in leiomyosarcoma and alveolar, embryonal and sclerosing rhabdomyosarcoma, and correlate with poor survival in alveolar rhabdomyosarcoma (Barr et al. 2009). HMGA2
amplifications are characteristic for pituitary adenomas, and especially for prolactiomas (Finelli et al. 2002) and also observed in adenomas and carcinomas of salivary glands (Persson et al. 2009).
The SALSA MLPA Probemix P323-B2 CDK4-HMGA2-MDM2 contains 50 MLPA probes with amplification products between 124 and 478 nucleotides (nt). This includes 36 probes for detecting copy number changes in chromosome 12, including two probes for the CDK4
gene at 12q14.1, five probes for the HMGA2
gene at 12q14.3 (one for each exon) and four probes for the MDM2
gene at 12q15. In addition, 14 reference probes are included which target relatively copy number stable regions in various cancer types. Complete probe sequences are available online (www.mlpa.com
This probemix contains nine quality control fragments generating amplification products between 64 and 105 nt: four DNA Quantity fragments (Q-fragments), two DNA Denaturation fragments (D-fragments), one Benchmark fragment, and one chromosome X and one chromosome Y-specific fragment (see table in the product description). More information on how to interpret observations on these control fragments can be found in the MLPA General Protocol and online at www.mlpa.com