The PAX7 Breakapart probe consists of a green 109kb probe and a red 139kb probe, which are positioned on each side of the PAX7 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.
We have successfully used CytoCell haematology probes over the last 5 years and were looking for the same quality and consistency for our FISH pathology screening. OGT worked closely with us to help our lab evaluate – and later validate – CytoCell pathology probes. CytoCell is now our primary FISH probe supplier. Results have been excellent and we were able to consolidate our workflow to follow a single, streamlined protocol.
Dr Mary Nordberg
Molecular Pathology Director, Delta Pathology Group, USA