General information
The SALSA MLPA Probemix P380 Wilms’ tumour is a
research use only (RUO) assay for the detection of deletions or gains on chromosomal arms 1p, 1q, 16p, and 16q. This probemix can further be used to determine the copy number of
MYCN on 2p24.3,
FBXW7 on 4q31.3,
WT1 on 11p13,
TP53 on 17p13.1, and
AMER1 (previously known as
FAM123B) on Xq11.1.
Wilms’ tumour (WT) is the most common paediatric renal tumour. Most of the cases occur sporadically in otherwise healthy children. However, a minority of cases is associated with other developmental abnormalities such as WARG, Denys-Drash, Beckwith-Wiedemann, Perlman or Frasier syndrome (Maciaszek et al. 2020). While the survival of children with Wilms’ tumour has increased to ~90%, the survival of patients with relapse is still low (~50%) (Spreafico et al. 2021).
Copy number changes of certain chromosomal regions and genes have been found to be highly significant for prognosis. Tools to classify these high-risk Wilms’ tumour patients are needed to intensify the treatment and, in addition, to reduce the treatment burden of the low-risk patients.
This SALSA MLPA probemix is not CE/FDA registered for use in diagnostic procedures. Purchase of this product includes a limited license for research purposes.
Probemix content
The SALSA MLPA Probemix P380-B1 Wilms’ tumour contains 53 MLPA probes with amplification products between 127 and 500 nucleotides (nt). This includes seven probes for chromosomal arm 1p, five probes for 1q, three probes for 16p, six probes for 16q, and three probes for each of the genes
MYCN,
FBXW7,
WT1,
TP53, and
AMER1. Additionally, seven flanking probes (for the 2p, 2q, 4q, 11p, 17p, Xp and Xq arms) are included to facilitate the determination of the extent of a deletion or duplication.
In addition, 10 reference probes are included that target relatively copy number stable regions in various cancer types including Wilms’ tumour. Complete probe sequences are available 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.