Supplementary Material for: Genomic Characterization of a Metastatic Alveolar Rhabdomyosarcoma Case Using FISH Studies and CGH+SNP Microarray Revealing FOXO1-PAX7 Rearrangement with MYCN and MDM2 Amplification and RB1 Region Loss

Rhabdomyosarcomas (RMS) are rare, heterogeneous, soft tissue sarcomas
and a common type of childhood malignancy with a distinct
histomorphology. At the molecular level, alveolar rhabdomyosarcoma
(ARMS), a subtype of RMS, harbors a signature genetic makeup
characterized by specific translocations. The type of translocation and
associated genetic aberrations correlate with disease progression, hence
we used multiple molecular modalities including high-resolution array
comparative genomic hybridization to explore the oncogenic gene fusion
and associated copy number variations in a case of metastatic ARMS. We
describe a case where traditional cytogenetic and molecular methods
yielded inconclusive results in detecting the FOXO1 gene rearrangement. However, microarray analysis identified the essential FOXO1-PAX7 aberration and additional submicroscopic genomic alterations, including amplification of MYCN and MDM2 and deletion of RB1.