AWMGS is delighted to announce the availability of POLE NGS Testing across NHS Wales.
Following NICE guidance published in October 2021 and the addition of POLE gene sequencing to the Test Directory for Genomics Hubs in England (from 1st April 2022), AWMGS is delighted to announce that POLE testing is now available for endometrial cancer patients in Wales, when requested by pathologists, for the molecular classification of these tumours. This service uses the Illumina TSO500 test on the Novaseq 6000.
Suitability for POLE gene sequencing is based on the assessment of clinicopathological risk factors. If an endometrial cancer shows ANY of the following features, then tissue can be sent for POLE gene sequencing:
• Non-endometrioid sub-type (e.g. serous carcinoma, clear cell carcinoma, carcinosarcoma, undifferentiated carcinoma or de-differentiated carcinoma).
• FIGO grade 3.
• ER negative or very focal
• Aberrant/mutation-type staining for p53.
• Loss of staining for any of the MMR proteins (MMR deficient) - this includes cases which show loss of MLH1/PMS2 with MLH1 promoter methylation.
POLE reports are issued to the referring pathologist who combines the outcome with other results to generate a molecular classification of the tumour. These classifications help oncologists to select optimal treatment strategies with their patients.
The laboratory contributed to a webinar delivered by the Gynaecological Cancer Site Group of the Wales Cancer Network on testing of endometrial cancers for both molecular classification and Lynch syndrome. A recording is available here under ‘gynaecological meetings and events’:
For more information please see the service information sheet and to access the request form for this service, please click here.
