Test Code:
Synonym(s):
1. 10 unstained sections of tumour and a corresponding H&E-stained histological section, OR
2. 1 paraffin block of tumour
Background
A proportion of spindle cell/sclerosing rhabdomyosarcomas harbour a recurrent somatic point mutation of the MYOD1 gene c.365T>G p.Leu122Arg resulting in the mutated MyoD1 protein having MYC-like properties. MYOD1-mutated spindle cell/sclerosing RMS have an aggressive clinical course.
Purpose of test
The test identifies the specific MYOD1 point mutation c.365T>G p.Leu122Arg (p.L122R) by Sanger sequencing.
Expected test result
MYOD1 p.L122R mutation detected/not detected.
Caveats
DNA integrity and concentration must meet assay requirements. Low tumour content (<50%) may result in a false negative result.
Proficiency testing
Alternative performance assessment programme.
Reference
Kohsaka S et al. A recurrent neomorphic mutation in MYOD1 defines a clinically aggressive subset of embryonal rhabdomyosarcoma associated with PI3K-AKT pathway mutations
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