Table II.
Genomic status of embryonal rhabdomyosarcoma
| Proband | ERMS Location | Source of Tumor Sample | Timing of Sample Procurement | Mutation Status | LOH Status |
|---|---|---|---|---|---|
| CS 170 | Pelvis | FFPE | N/A | HRAS Hom p.Gly12Ser | Paternal UPD11 |
| CS 181 | Pelvic involving bladder, prostate | Fresh Tissue | Post-treatment | HRAS Hom p.Gly12Ser | Paternal UPD11 |
| CS 187-T1 | Bladder | Fresh tissue | Pre/Post treatment | HRAS Hom p.Gly12Ser; HRAS Het p.Arg68Trp | Paternal UPD11 |
| CS 187-T2 | Thoracic | Fresh tissue | Post-treatment | HRAS Hom p.Gly12Ser; HRAS Het p.Arg68Trp | Paternal UPD11 |
| CS 214-T1 | Abdominal | FFPE | Pre/Post-treatment | HRAS Hom p.Gly12Ser | Paternal UPD11 |
| CS 214-T2 | Paratesticular | FFPE | Pre-treatment | HRAS Hom p.Gly12Ser | 11p15.5 UPD |
| CS 242 | Abdominal/pelvic | Fresh tissue, and Cell line | Pre-treatment | HRAS Hom p.Gly12Ala | Paternal UPD11 |
| CS 283-T1 | Sphenoid | FFPE | Pre-treatment | HRAS Hom p.Gly12Ala | Paternal UPD11 |
| CS 283-T2 | Nasopharyngeal | FFPE | Diagnosis of reoccurrence | HRAS Hom p.Gly12Ala | Paternal UPD11 |
| CS 457 | Seminal Vesicle | Fresh tissue | Pre-treatment | HRAS Hom p.Gly12Ser | 11p UPD |
| CS 393 | Retroperitoneal | Fresh tissue | Pre-treatment | HRAS Hom p.Gly12Ser | 11p UPD |
| RD | Pelvis | Cell line | N/A |
NRAS Het p.Gln61His TP53 Het p.Trp248 |
UPD11 |
| Rh36 | Paratesticular | Cell line | N/A | HRAS Het p.Gln61Lys | UPD11 |
| Rh18 | Perineum | Cell line | N/A | N/D | Partial LOH |
| P673 | N/A | FFPE | N/A | NRAS Het p.Gln61Lys | Partial LOH |
| P666 | N/A | FFPE | N/A | HRAS Hom p.Cys12 | Partial LOH |
| P664 | N/A | FFPE | N/A | HRAS Hom p.Arg13 | UPD11 |
| P657 | N/A | FFPE | N/A | NRAS Het p.Gln61Lys | Partial LOH |
| P670 | N/A | FFPE | N/A | N/D | UPD11 |
| P643 | N/A | FFPE | N/A | N/D | Partial LOH |
| P646 | N/A | FFPE | N/A | N/D | UPD11 |
| P662 | N/A | FFPE | N/A | N/D | Partial LOH |
Abbreviations are as follows: FFPE, formalin fixed paraffin embedded; Hom, Homozygous; Het, Heterozygous; LOH, loss of heterozygosity; UPD, uniparental disomy; N/A, not available; N/D, not detected.