MMR DEFICIENT

Hello,

My Mum was in a similar situation where she was also informed she was MMR deficient which can determine some treatment options. With MMR deficiency immunotherapy has shown to be most effective, which may be discussed further with you. Some people have had immunotherapy alongside chemotherapy or following chemotherapy and there are ongoing clinical trials on immunotherapy being used as a first line treatment instead of the usual treatment with chemotherapy, particularly for people with MMR Deficiency. My Mum has recently just completed a chemotherapy 6 cycle treatment, but was initially informed that immunotherapy could be a potential option later on if required.

Your team should be able to explain this fully with you.

Take care

Lisa

HI Lisa,

Thank you for your reply.  Immunotherapy was mentioned but I was unsure of the context.  They did say that the MMR could have been a sporadic event or ongoing but the full results of that testing would take approx 8 weeks.

I see your mum had chemotherapy, was there any discussion with her that chemotherapy may not be the best choice?

I have been advised that after surgery chemotherapy would add 10% to the survival rate but with MMR deficiency that would be only 7% maximum and could be as low as 1%.  

I am making a list of the points I need to discuss at my review on 08/08.  

I hope your mum is recovering well from her treatment.

Jules

Hi,

Over the past couple of years most hospitals have been testing people with an Endometrial Cancer diagnosis for Lynch Syndrome where they test for missing proteins (there are usually 4 proteins tested) which can be an indicator for the condition,  although not always. According to studies Lynch Syndrome accounts for around 3% of cases however MMR Deficiency can be seen between 20-30% of Endometrial Cancer cases most of which are a result of sporadic incidents.

My Mum was missing MLH1 and PMS2 proteins which I believe is the most common which are missing. She then had further testing where it was deemed to be a sporadic event and therefore she was not referred on to Germline testing which is a blood test they use to determine if a person has Lynch Syndrome or not. For people with MLH1 and PMS2 it is a triage of tests rather than being referred directly to Germline testing.

In terms of the Chemotherapy with my Mum, she was initially going to join a clinical trial for immunotherapy being used as a first line treatment or she could have been placed in the chemotherapy arm of the trial, they wanted to compare which treatment is most effective as a first line treatment. After screening my Mum didn't meet the criteria for the clinical trial and was placed on the standard of care which is treatment with Chemotherapy.

It wasn't discussed with her that Chemotherapy wouldn't be effective as for a lot of people including those with MMR deficiency it can still be effective, however studies have shown that immunotherapy can be more effective in people with MMR deficiency and has been shown to have longer lasting effectiveness in a sizable number of cases. It is now more widely available following the results of a clinical trial.

My Mum had a mid point CT scan during her chemotherapy treatment and it appears that there has been a reduction in the size of the tumours, she has another scan next week as she has now completed the 6 cycles of chemotherapy and we will know more after this.

It would be helpful for you to write down any questions you have before your appointment to enable you to be further informed.

Take care