My wife, the mutant - calling all AR M887V and FGFR2 I388V mutants!

Written by Lars Haakon Soraas

It is now 2018 and weeks 123 and 124 in the war on lung cancer have passed. We have figured out my wife has some interesting mutations in every cell in her body. And we are interested in getting in touch with other who have similar mutations. More on this below, but first these last two weeks’ highlights:

  • In the week between Christmas and New Year Dyanne did the last two fractions of radiation for the metastasis in the lower left lung.
  • Dyanne has been quite fatigued and also had some nausea and a bit of stomach pain in the last couple of weeks. The nausea is probably from the radiation and stomach pain is probably also due to that. Fatigue is probably due to a variety of causes, including somewhat low hemoglobin which again probably is caused by low iron (she had to stop iron tablets for a while due to stomach issues).
  • We have also noticed that Dyanne over the last few months have gotten a high level of eosinophiles (so called “eosinophilia”) We think this is likely a side effect of the ipilimumab injection she got back in September last year. What does this mean? Hard to say. But no intervention seems necessary and the level has now stopped increasing.
  • The liquid biopsy we have done with Foundation One (“FoundationAct”) came back with the following results: no known pathogenic mutations found. In other words: they did not find any trace of cancerous DNA in the blood. Even if these tests are not perfect and cannot detect everything, it is a good result and what we were hoping for.
  • The Foundation One test did come back with another interesting result, however: they found a mutation in the FGFR2 gene (the “fibroblast growth factor receptor 2”). The mutation is this: FGFR2 I388V. As this seems to be an extremely rare mutation (read: never before been reported in the literature), no one knows what this mutation does. However, I noticed (belatedly, you may say) that this mutation was also reported when we did a FoundationAct test back in May 2017. That this mutation would show up twice, especially without any other, and known (e.g. EGFR), mutations showing up seemed odd to me. I therefore checked with the team in Germany who have done exome sequencing of both Dyanne’s tumor and also normal blood. They could report that this FGFR2 mutation not only was in Dyanne’s tumor cells. It was also in every other cell in her body… It is thus a mutation that she was born with (a so called “germline” mutation). What does this mean? No one knows for sure. However, the FGFR2 gene seems to be involved in several types of cancer. So it is not impossible to imagine that this mutation somehow has played a role in Dyanne getting lung cancer at such a young age.
  • We have also previously found a germline mutation in another gene known to be involved in a lot of cancerous processes: the AR gene (“androgen receptor”). The particular mutation Dyanne has is: AR M887V.
  • Dyanne thus have two germline mutations in genes that are known to be involved in cancer. Although these mutations may be completely innocent, it also seems like a plausible scenario that one of them, or maybe both, have played a role in Dyanne getting cancer so young.
  • If you, or someone you know, have germline mutations in either the AR gene or the FGFR2 gene, we would be interested in getting in touch with you. Particularly so if the person with the mutation has cancer or have family members with cancer. My email address is .

Three young people died in the last few days of lung cancer. John Cherol from Ohio was part of our EGFR email group. He passed away yesterday. He was 30 years old. Then it is Helen Nutter, from the UK. She was 32 or something. Her daughter is the same age as our daughter. I tried to help Helen and her family a bit. But my help did not help and the diseases took her away a few days ago. And then there was Jannicke from Trøndelag in Norway. She was 41 years old and had two teenage kids. Her husband was was part of our email group. Jannicke died yesterday.

Instead of Happy New Year, I will end with this: Let us do whatever we can to overcome lung cancer in 2018. Let us find a cure and let us find out why so many never-smokers get it so that we can intervene early and make sure less people get it. Let us put up a real fight against this gruesome disease. Let us do better than we did in 2017 and the first week of 2018. Let us have this as a target for 2018: less people should die from lung cancer in 2018 than happened in 2017 (approximately 1.6 million).

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