“My daughter had a suspicious birthmark in 2010,” says Joke. “It turned out to be melanoma, but luckily it was recognized and removed in time. Two years later she turned eighteen and asked the dermatologist if she wanted to have it tested to see whether the melanoma was hereditary.” Marianne: “Then, as an aunt, I suggested that I get tested. I had previously had a few melanomas removed and had been debating for years whether or not to test for a mutation in the CDKN2A gene. Now I made the decision, so at least we knew whether it runs in the family.”
Mutation in the CDKN2A gene
Familial skin melanoma, also known as FAMMM syndrome (Familial Atypical Muliple Mole Menanoma), is a result of a rare mutation in the CDKN2A gene. In the Netherlands we also call the mutation in the CDKN2A gene ‘p16-Leiden’. This mutation causes a high risk (70%) of developing skin cancer, often at a relatively young age. People with the ‘p16-Leiden’ mutation also have a 15 to 20% risk of developing pancreatic cancer during their lifetime and have a slightly increased risk of cancer of the mouth and throat.
‘It was an instant hit’
“The result of the clinical geneticist was: you are a carrier of the mutated CDKN2A gene,” Marianne continues. “Well that did come in, it was suddenly black and white. In 2019, Joke’s daughter also had herself tested because she wanted to have children and knew that you can do a PGT (Preimplantation Genetic Test) process that prevents you from passing on the mutation to your child. She also turned out to be a carrier of the gene.”
Joke: “Because it runs on our side of the family, I was eligible for pancreatic cancer screening. I still got tested, because this was a condition for my daughter’s PGT program. I too had the mutated gene. The first MRI showed me right away: I had pancreatic cancer. After that it went very quickly. At the beginning of 2020, I started chemotherapy, eight times every two weeks. In mid-May of that year I had surgery and part of the pancreas was removed.”
Quarters fall years later
Once it was known that the gene runs in the family, the two sisters were very concerned. Marianne: “In 1996 our father died of pancreatic cancer and in December of the same year my brother Ruud called because he had a failure in his arm. The oncologist diagnosed melanoma and Ruud died within ten months at the age of 32.” Joke: “It has never been proven, but our father and brother probably both had the gene mutation. We also have an older brother, who is the only child in our family not a carrier of the gene.”
Pancreas screening
People like Marianne and Joke with FAMMM syndrome – with a mutation in the CDKN2A gene – are eligible for annual pancreas screening. They can start screening from the age of 40, even if there is no family history of pancreatic cancer. The program at the LUMC consists of an annual MRI of the pancreas with the option of having an internal ultrasound made six months later. The goal is to detect abnormalities and tumors of the pancreas at an early stage and treat pancreatic cancer as quickly as possible. Operating on the tumor is currently the only treatment option that can lead to a cure.
Exciting days
Marianne: “Because we have a hereditary condition, I have a skin check with the dermatologist twice a year and a pancreas screening once or twice a year. It took a while before I started the screening, because I didn’t want to have to deal with the gene all the time. I don’t think the studies are that much of a problem. The days before I am hyper and my mind is less focused on my work. These are exciting days, especially if you are waiting for the results. If the results are good, I always go for a coffee somewhere and text people. I am single and benefit from being able to share.”
Don’t dwell on it for too long
“I’m not really concerned with it, it just has to be done,” says Joke. “After the operation in 2019, I immediately started screening the remainder of my pancreas. I always prefer to go to the hospital alone, because sometimes you have to wait a long time. Then I do my own thing and I can close myself off to it. Of course I also find it exciting, you have no control over whether they find something suspicious or not. But I don’t want to dwell on it too long. I just do the checks and then it’s done for a while.”
Very lucky
Marianne to her sister: “You were very lucky to be there on time.” Joke: “Yes, otherwise I wouldn’t be here now. It’s because Marianne and my daughter had themselves tested. That saved my life. The chemo and surgery were not easy, but I felt from the start that everything would be fine. Unfortunately, I am still not the same as I used to be. It left me with neuropathy and I get tired easily. Fortunately, I can work six hours a week again in the living room of a nursing home. And I became a grandmother of a grandson in mid-September, which gives positive energy.”
Oocytes without CDKN2A gene
“It’s really nice that we know that Joke’s grandson is not a carrier of the gene,” says Marianne. “Joke’s daughter told me that she did not want to do to her children what happened to her. That is why she did the PGT process. In November 2018 we attended the patient information day about familial skin melanoma and she spoke to the clinical geneticist. He told her that they can select the eggs with a mutation in the CDKN2A gene and replace the eggs without this mutation. This way you can have children through a PGT process without passing on the hereditary gene. I remember well that she went home afterwards with a smile on her face.”
2023-11-03 12:30:10
#alive #sister #daughter #tested #LUMC
