Rhabdomyosarcomas (RMS) are classified mainly into alveolar, embryonal , spindle cell and pleomorphic types. Recent publications report a recurrent somatic point mutation c.365T>G encoding p.Leu122Arg in the myogenic transcription factor MYOD1 in approximately 10% of spindle cell RMS, resulting in the mutated MyoD1 protein having MYC-like properties. MYOD1-mutated spindle cell RMS have an aggressive clinical course.
Expected Test Result: MyoD1 p.L122R mutation detected/not detected.
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