New Genetic Testing Pathways Launch for Patients with Cancer of Unknown Primary

From July 16th new genomic testing pathways will be available for patients with a Cancer of Unknown Primary diagnosis:

• Liquid Biopsy (ctDNA) testing – M226.7 
• Tissue Testing – M226.5 and M226.7
• Whole Genome Sequencing – M226.4 

For extended information about this pathway please refer to our educational session on YouTube.

Liquid Biopsy (ctDNA testing) 

Liquid biopsy (ctDNA) is available for patients that meet the following criteria: 

• ECOG Performance status 0-2  

• Diagnosis of carcinoma unknown primary origin as per the ESMO / NICE guidelines.  

• Not currently on treatment  

• Discussion at a local CUP MDT confirming diagnosis 

Please note that patients with a malignancy of unknown origin or a non-epithelial/non-neuro-endocrine malignancy of unknown origin are NOT eligible for ctDNA testing. 

The North Thames GMS provide liquid biopsy testing for clinicians in the North Thames, East and South West regions. Please see below for information about ordering a test: 

• Frequently Asked Questions  

• Instructions for Use Document

• Test Request Form 

For any questions regarding liquid biopsy testing please email Marsden360@rmh.nhs.uk.

Tissue testing 

Tissue testing is available for patients that meet the following criteria: 

• ECOG Performance status 0-2 

• Diagnosis of carcinoma unknown primary origin as per the ESMO / NICE guidelines. 

• Discussion at a local CUP MDT confirming diagnosis 

• Adequate biopsy material (FFPE) is available for DNA extraction 

Please note that patients with a malignancy of unknown origin or a non-epithelial/non-neuro-endocrine malignancy of unknown origin are NOT eligible for tissue testing. 

Clinicians should follow their normal tissue sampling procedures as per their regional Genomic Medicine Service: 

• North Thames 
• East 
• South West 

Whole Genome Sequencing  

WGS testing is available for patients that meet the following criteria: 

• Adult, paediatric and TYA patients with Cancer of Unknown Primary (CUP) are eligible for WGS 

• Adequate fresh tissue is available for DNA extraction 

WGS is not restricted to but permitted where there have been non informative results from ctDNA or tissue and WGS may provide additional actionable information. 

• North Thames 
• East 
• South West 

For questions please first refer to the FAQ document. If you still have queries please contact:

• For liquid biopsy information please email Marsden360@rmh.nhs.uk.
• For questions about tissue testing pathways please contact your regional GLH.
• Your local GTAB for clinical advice or queries.
• About the CUP genetic testing pathways please email nt-gms@gosh.nhs.uk for general pathway queries.