General information
SALSA
® MLPA
® Probemix P477 Head and neck carcinoma is a
research use only (RUO) assay for the detection of copy number alterations (CNAs) in multiple chromosomal regions and genes associated with distinct subgroups in head and neck squamous cell carcinoma (HNSCC): 2q36.2 (
CUL3), 3q26.32-q26.33 (
PIK3CA, SOX2), 4q35.2 (
FAT1), 5q15 (
KIAA0825), 7p11.2 (
EGFR), 8q11.21 (
SNAI2), 9p22.3 (
NFIB), 11q13.2-q13.3 (
CCND1,
FADD), 18p11.31 (
TGIF1) and 20q11.21 (
BCL2L1).
Head and neck squamous cell carcinoma (HNSCC) – the most common form of head and neck cancer, accounting for ~8% of all cancers worldwide with higher frequencies in Southeast Asia and Asia-Pacific regions, and incidence rates are projected to increase. HNSCCs are characterized by clinical, phenotypic and genetic heterogeneity with unstable genomes, exhibiting multiple chromosomal gains and losses, and other structural aberrations. For the most prevalent HNSCCs, oral cavity squamous cell carcinomas (OCSCCs), distinct subgroups were identified (Muijlwijk T et al, 2024): (i)
CNA-quiet with no or few CNAs, and (ii)
CNA-other, featuring multiple CNAs in chromosomal regions reported in the Cancer Genome Atlas (TCGA) consortium publication (Cancer Genome Atlas Network, 2015).
CNA-quiet OCSCCs have a distinct cancer driver gene profile, histological and clinical features, and have more favourable prognosis. P477 Head and neck carcinoma was shown to be a suitable pre-screening method to select
CNA-other OCSCC (Muijlwijk T et al, 2024).
This product is not CE/FDA registered for use in diagnostic procedures. The SALSA® MLPA® technique is covered by US patent 6,955,901 and corresponding patents outside the US. The purchase of this product includes a license to use only this amount of product solely for the purchaser’s own use.
Probemix content
P477-A1 Head and neck carcinoma contains 49 MLPA probes with amplification products between 129 and 500 nucleotides (nt). This includes 36 probes for the
CUL3,
PIK3CA,
SOX2,
FAT1,
KIAA0825,
EGFR,
SNAI2,
NFIB,
CCND1,
FADD,
TGIF1 and
BCL2L1 genes. In addition, 13 reference probes are included that target relatively copy number stable regions in HNSCC. The identity and partial sequences of the genes detected by the reference probes are available in Table 3 and online (
www.mrcholland.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. More information on how to interpret observations on these control fragments can be found in the MLPA General Protocol and online at
www.mrcholland.com.