Skip Ribbon Commands
Skip to main content
Menu

MYOD1 p.L122R mutational analysis for spindle cell/sclerosing rhabdomyosarcomas

Test Code:

HT0203

Synonym(s):

Specimen Container

Specimen Requirement

10 unstained sections of tumour and a corresponding H&E-stained histological section, OR

1 paraffin block of tumour

Specimen Storage / Transport

Method

 

Orderable as STAT?

No

Turn Around Time

5 Working days

Reference Value(s)

Testing Laboratory Location

KKH

Laboratory

Molecular Pathology

Contact Number

6394 1402

Day and Time Performed

Mon – Fri: 0800 hrs– 1700 hrs

Orderable on CPOE?

No

Downtime Form

Additional Information

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

Change History Notes

Others

Keywords

MYOD1 p.L122R Mutational Analysis (Sequencing) HT0203

MYOD1 p.L122R mutational analysis for spindle cell/sclerosing rhabdomyosarcomas
TOP

What's New

Sort by :