PAX3 Breakapart Probe LPS012 - Detail

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 (80%) of ARMS are associated with the t(2;13)(q35;q14) translocation and less commonly with t(1;13)(p36;q14) leading to the fusion of transcription factor FKHR (Forkhead in Rhabdomyosarcoma) or FOXO1A (Forkhead Box protein 1) to the transcription factors PAX3 (Paired Box protein 3) and PAX7 respectively. The distinction between t(1;13) and t(2;13) ARMS is important because patients with the t(2;13) have a more adverse outcome then patients with t(1;13) ². In cases of ARMS patients who are negative for FKHR translocation, two variant PAX3 translocation associated fusion transcripts (PAX3-AFX and PAX3-NCOA1) could be present^3,4. The PAX3 and PAX7 probes will distinguish patients with a different outcome for ARMS and will avoid false positive FISH results in ARMS cases when FKHR is not involved in translocations.

Reference:/Bibliographie/Literatur/Bibliografia

1. Parham and Barr 2002 Kodet et al 1993 AmJ Surg Pathol 17:443-453.
2. Sorensen et al. 2002 J Clin Oncol 20:2672-2679
3. Nishio J et al (2006) Lab Investigation 86,547-556
4. Barr et al Cancer Res 2002; 62:4704-4710