MYOD1 p.L122R Mutational Analysis (Sequencing)

Test Code:

HT0203

Synonym(s):

Specimen Container

Specimen Requirement

1. Formalin-Fixed Paraffin-Embedded block or
2. 10x unstained sections and 1 corresponding H&E slide.

Tissue must be non-necrotic, non-cauterised, and must not have undergone acid-based decalcification. Improper storage conditions may additionally compromise nucleic acid integrity.

Specimen Storage / Transport

Method

Orderable as STAT?

Turn Around Time

7 Working days

Reference Value(s)

Testing Laboratory Location

KKH

Laboratory

Molecular Histopathology

Contact Number

6394 1402

Day and Time Performed

Mon – Fri: 0800 hrs– 1700 hrs

Orderable on CPOE?

Downtime Form

Molecular Histopathology

Additional Information

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.

The molecular test result must always be correlated with clinical and histopathological findings by an appropriately trained, qualified and experienced pathologist.

Quality Assurance: Internal Quality Assurance (KKH DPLM)