- PAX3, 2q36.1, Red
- PAX3, 2q36.1, Green
The PAX3 Breakapart probe consists of a green 168kb probe and a red 124kb probe, which are positioned on each side of the PAX3 gene.
Rhabdomyosarcoma (RMS) is the most common soft-tissue sarcoma in children. One of the primary histological subtypes is the alveolar RMS (ARMS)1.
The majority (55%) of ARMS are associated with the t(2;13)(q36.1;q14) translocation, and less commonly (22%) with t(1;13)(p36;q14), leading to the fusion of transcription factor FOXO1 (Forkhead Box protein 1) to the transcription factors PAX3 (Paired Box protein 3) and PAX7, respectively2. The distinction between the t(1;13) and t(2;13) in ARMS is important as patients with the t(2;13) have a more adverse outcome than those with the t(1;13)3.
In ARMS cases that are negative for translocations involving FOXO1, there are two other variant PAX3 translocations that could be present - t(X;2)(q13;q36.1) PAX3-FOXO44 and t(2;2)(q36.1;p23) PAX3-NCOA15.
It was very important for us to have more consistent results with our probes — easy-to-read bright signals and a range of vial sizes, which is much more cost-effective. It also was critical to upgrade our pretreatment kit to expedite the analysis of FFPE samples. We can now complete the process in about 90 minutes. Janet M. Cowan, PhD, Director of the Cytogenetics Laboratory at Tufts Medical Center
1. Kodet R et al., Am J Surg Pathol 1993;17(5):443-53
2. Ahn et al., Oncol Rep. 2013 August; 30(2): 968–978
3. Sorensen et al., J Clin Oncol 2002;20:2672-9
4. Barr et al., Cancer Res 2002;62:4704-10
5. Wachtel et al., Cancer Res 2004:64(16):5539-45
- Area of Interest*
This product is intended to be used on formalin-fixed paraffin-embedded (FFPE) tissues.
*Disease information supported by the literature and is not a reflection of the intended purpose of this product.