Abstract
To determine the frequency of variable FOXO1 translocations in the alveolar RMS patient group. Thirty-two tumor samples were collected and analyzed using a combination of histological, immunohistochemistry (Myogenin, MyoD1), and molecular genetic techniques (fluorescence in situ hybridization (FISH) and real-time polymerase chain reaction (RT-PCR)). Cytogenetic analysis using the FISH technique with a FOXO1-specific probe identified 26 (81%) samples with rearrangements at the FOXO1 locus and seven (19%) without rearrangements. Real-time PCR identified the translocation partners PAX3 in 58% (15/26) and PAX7 in 42% (11/26) of samples. Four cytogenetic patterns were observed: classical translocation, translocation with amplification, translocation with deletion, and normal signal distribution. Alveolar rhabdomyosarcomas exhibit genetic heterogeneity and a diversity of cytogenetic profiles. The frequency ratio of PAX3/PAX7::FOXO1 variable transcripts is 1:1. Approximately 20% of cases of alveolar RMS do not have cytogenetic signs of rearrangements of the FOXO1 gene.
Published Version
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