General information: The SALSA MLPA Probemix P037 CLL-1 is a research use only (RUO) assay for the detection of deletions or duplications in various genes and chromosomal regions implicated in B-cell chronic lymphocytic leukemia (B-CLL) such as: 2p (MYCN, ALK, REL), 6q (TNFAIP3), 8p (TNFRSF10A/B), 8q (EIF3H, MYC), 9p21 (CDKN2A/B), 11q (ATM), chromosome 12, 13q14 (MIR15A, DLEU2/7) and 17p (TP53).

B-CLL is the most common hematologic neoplasm in Western countries and results in the progressive accumulation of morphologically mature but functionally incompetent CD5(+) CD23(+) B lymphocytes in bone marrow, blood, spleen and lymph nodes of the affected person. Chromosomal translocations are rare events in B-CLL. Copy number changes of certain chromosomal regions are however frequent. Some of these have been found to be important prognostic markers of this disease.

The P038 CLL-2 probemix contains more probes for the 11q region and different probes for chromosome 12, 13q14 and the TP53 gene. Moreover, it contains probes targeting the PTEN gene, 14q, chromosome 19, and probes specific for NOTCH1 p.P2514*fs, SF3B1 p.K700E and MYD88 p.L265P point mutations. The P040 CLL probemix contains a selection of target genes and regions from P037 and P038 for the detection of del13q14, trisomy 12, del11q22-q23, and del17p13.

Probemix content: The SALSA MLPA Probemix P037-B1 CLL-1 contains 54 MLPA probes with amplification products between 130 and 500 nucleotides (nt). This includes 41 probes for 2p, 6q, 8p/q, 9p21, 11q, 12p/q, 13q and 17p chromosomal regions. In addition, 13 reference probes are included that target relatively copy number stable regions in CLL. Complete probe sequences and the identity of the genes detected by the reference probes 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. 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.