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. Author manuscript; available in PMC: 2016 Dec 1.
Published in final edited form as: Am J Med Genet A. 2016 Sep 2;170(12):3197–3206. doi: 10.1002/ajmg.a.37949

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.