Article Figures & Data
Figures
- Figure 1.
Microscopic examination of the pediatric rhabdomyosarcoma. (A, B, and C) Tumor with alveolar growth pattern showing loosely arranged tumor cells surrounded by fibrous septa. (D) Tumor with spindle cell pattern. (E) Tumor with mixed growth pattern. (F) Tumor in nests. (G) Transcription factor AP-2 beta showed diffuse and strong expression in tumor nuclei. (H) Myogenin showed strong positive staining in nearly 100% of tumor nuclei.
- Figure 2.
Cytogenetic examination of the pediatric rhabdomyosarcoma. Representative karyogram showing the abnormal karyotype 48,add(2)(q11),+del(2)(q35),add(3)(q?25),−7,del(8)(p21),−15,add(17)(p11),+20,+der(?)t(?;15)(?;q15),+mar.
- Figure 3.
Fluorescence in situ hybridization (FISH) analysis of the pediatric rhabdomyosarcoma using a commercial PAX3 breakapart probe. (A) Diagram showing the proximal (red) and distal (green) parts of the PAX3 breakapart probe. The neighbor gene sphingosine-1-phosphate phosphatase 2 (SGPP2) and the genetic markers D2S102, D2S2599, D2S313, and D2S2300 are also shown. (B) FISH on interphase nucleus with the PAX3 breakapart probe.
- Figure 4.
Array comparative genomic hybridization (aCGH) analysis of the pediatric rhabdomyosarcoma. (A) Whole genome aCGH showing trisomy for chromosome 20 and gains as well as losses from parts of chromosomes 2, 3, 6, 7, 8, 9, 10, 17, and 19. (B) Regions of chromosome 2 with gains and losses. The positions of the genes MYCNOS, MYCN, CYRIA, and PAX3 are shown. (C) The region around PAX3 showing both gains and losses. The position of the red centromeric and the green telomeric probes of the FISH PAX3 breakapart probe are also shown. The genomic area of PAX3 encompassing exons 1 to 7 is gained whereas the PAX3 area encompassing exons 8 to 10 is heterozygously lost. The FISH red centromeric probe maps to an area which has an extra copy (gain). (D) Regions of chromosome 17 with gain and loss. The positions of the genes MNT, TP53, MYOCD, and FOXO3B are shown. (E) The region around the MYOCD showing loss of a copy at the telomeric area (loss) and gain of a copy near the centromere. The few aCGH probes for MYOCD are inadequate to draw any certain conclusion as to possible copy number change of MYOCD.
- Figure 5.
Molecular genetic analyses of the pediatric rhabdomyosarcoma. (A) Gel electrophoresis showing the amplified PAX3-MYOCD cDNA fragment with nested PCR using the primer combination PAX3-1374F1/MYOCD-2664R1 (lane 1). M: GeneRuler 1 Kb Plus DNA ladder (ThermoFisher Scientific). (B) Partial sequence chromatograms of the cDNA amplified fragment showing the junction position of the PAX3 and MYOCD genes (vertical dotted line). In the PAX3-MYOCD fusion transcript, exon 7 of PAX3 (nt 1556 in reference sequence NM_181457.4) was fused in frame with exon 12 of MYOCD (nt 2487 in reference sequence NM_153604.3). (C) The 600 amino acid (aa) residues of the PAX3-MYOCD protein is composed of the first 390 aa (in yellow) from PAX3 (1-390 from NP_852122.1) and the last 210 aa (in green) from MYOCD which contains the transactivation domain of MYOCD (729-938 from NP_705832.1).
