Skip to main content
. Author manuscript; available in PMC: 2017 Jun 27.
Published in final edited form as: Crit Rev Oncog. 2015;20(3-4):227–243. doi: 10.1615/critrevoncog.2015013800

TABLE 1.

Genetic Alterations Commonly Observed in PAX Gene Fusion–Positive Rhabdomyosarcoma

Alteration Type Chromosomal Locus Estimated Frequency References
PAX3-FOXO1 Translocation (2;13)(q35;q14) 59% of ARMS 17, 24
PAX7-FOXO1 Translocation with amplification (1;13)(p36;q14) 19% of ARMS 21, 24
PAX3-NCOA1 Translocation Alveolar Rare 23
PAX3-INO80D Translocation Alveolar Rare 18
CDK4 Amplification 12q13-14 12% 25
MYCN Amplification 2p24 20% 25
miR-17-92 Amplification 13q31-32 26
IGF2 locus Uniparental disomy 11p15.5 29% 18

ARMS, alveolar rhabdomyosarcoma.