Supplementary Figure 1: Cytogenetics and molecular genetics findings for the PAX3-MAML3 fusion.
From: Recurrent PAX3-MAML3 fusion in biphenotypic sinonasal sarcoma
(a) Partial karyogram showing the chromosomal translocation t(2;4)(q35;q31.1). (b,c) FISH break-apart strategy showing rearrangements of the PAX3 and MAML3 loci, respectively (see also Fig. 1b). The percentage of rearranged cells for these loci ranged from 25 to 78% (median, 60%). Endothelial cells, inflammatory cells, sinonasal epithelial cells and other non-neoplastic cells showed no rearrangement of these loci. (d) Representative RT-PCR gel showing the PAX3-MAML3 fusion in three examples of SNS (lanes 1–3). Several other tumors (lanes 4–8: alveolar rhabdomyosarcoma, dermatofibrosarcoma protuberans, melanoma, malignant peripheral nerve sheath tumor and synovial sarcoma, respectively) and normal sinonasal tissue (lane 9) were negative for the fusion product; lanes 10–11 have no template. (See also Supplementary Table 2). (e) Confirmatory chromatogram showing the PAX3-MAML3 sequence at the fusion breakpoint in case 1.
