Supplementary Figure 4: Assessment of whole-genome copy number, LOH and PTEN deletion status in MYOD1-mutated samples using the Affymetrix OncoScan FFPE assay kit. | Nature Genetics

Supplementary Figure 4: Assessment of whole-genome copy number, LOH and PTEN deletion status in MYOD1-mutated samples using the Affymetrix OncoScan FFPE assay kit.

From: A recurrent neomorphic mutation in MYOD1 defines a clinically aggressive subset of embryonal rhabdomyosarcoma associated with PI3K-AKT pathway mutations

Supplementary Figure 4

(a) The results of 9 of 10 mutant cases are summarized (sample RMS8 was inadequate for this analysis). MYOD1 is located on chromosome 11p15.1. LOH through uniparental disomy (UPD) was identified at this region in 44% (4/9) of the mutant cases. PTEN deletions were identified in 22% (2/9) of the mutant cases. Neither of these cases harbored PIK3CA mutations. (b) Representative data from case RMS5, depicting UPD at 11p12-15 and homozygous loss of PTEN exon 1.

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