Supplementary Figure 2: Sequenom mass spectrometry–based genotyping data showing MYOD1 L122R point mutation in ten ERMS cases. | Nature Genetics

Supplementary Figure 2: Sequenom mass spectrometry–based genotyping data showing MYOD1 L122R point mutation in ten ERMS cases.

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

Supplementary Figure 2

In human tumors with admixed non-neoplastic cells, heterozygous mutant (M) peaks are typically smaller than the wild-type (WT) allele peaks. The cases with LOH at MYOD1 by Affymetrix Oncoscan array analysis (see text for details) are grouped by the boxes. The latter data were not available in case RMS8, but the fact that the wild-type allele is less abundant than the mutant allele in this tumor biopsy is also suggestive of loss of the wild-type allele in this tumor.

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