I was diagnosed with MGUS (Monoclonal Gammopathy of Undetermined Significance) at the age of 35. It was found when I went to donate plasma and was told I couldn’t come back without a doctors note because there was an abnormal protein in my blood. The type of MGUS I was diagnosed with (IGG Lambda) had about a 1% chance of progression to Multiple Myeloma, an incurable blood cancer of the plasma cells that make up the immune system. It has now progressed to intermediate risk Smoldering Multiple Myeloma with immunoparesis. At this stage, there isn’t any treatment outside of clinical trials. They wait until end organ damage to occur to start treatment, but want to catch it early enough that treatment can start before the organ damage is permanent. For this “watch and wait” approach, I go to a cancer center once or twice every 3 months for lab work to check for progression, and to meet with the oncologist. I also see my primary care doctor a few times a year now instead of just for an annual exam.
Below is a screenshot of MGUS to Multiple Myeloma progression from the Multiple Myeloma Research Foundation – MMRF’s Multiple Myeloma Precursor Conditions video.
As it progresses, Multiple Myeloma damages bones, kidneys, the immune system, and causes anemia.
During the last appointment with my oncologist in October of 2022, it was discovered that my anemia was getting worse and it appeared to be related to a vitamin B12 absorption issue. My primary care doctor said if the numbers were the same or worse during my January 2023 appointment when my B12 is tested again, I would be scheduled for a colonoscopy/endoscopy to see if there were any issues that might cause that.
I also let her know that I did a whole genome sequencing test and had access to my entire genome. I was adopted and didn’t know a lot of my biological family health history so I ordered genome testing online. She asked me to see if I had any pathogenic BRCA mutations.
Hereditary Cancer Syndromes & Mutations
Not only did I have a BRCA 2 mutation, I found out I had an MSH2 Lynch Syndrome mutation and a PTEN mutation as well. I knew that BRCA mutations increased the risk of breast and ovarian cancer but I never heard of Lynch Syndrome or PTEN (Hamartora Tumor Syndrome) before. So off to Google and YouTube I went.
Many people with BRCA mutations have opted for hysterectomies and mastectomies as a preventative measure. Another option appears to be being screened often.
It looks like in addition to cancer, PTEN is also associated with benign growths such as lipomas which I have. They have been determined to be benign (thank goodness) after having an ultrasound.
Since Lynch Syndrome is associated with a very high risk of colon cancer, colonoscopies are recommended starting around age 20 for people with one of the Lynch Syndrome mutations (I’m in my early 40s and have never had one). I’m not going to lie, I’m even more nervous about the colonoscopy my doctor discussed during the previous appointment now.
The image below is a screenshot about the MSH2 mutation from Dana-Farber Cancer Center’s Five Genes in One: Gene to Gene Variability in Lynch Syndrome video.
The image below is a screenshot of the BRCA 1 and BRCA 2 cancer risks from Mass General Hospital’s Beyond BRCA: Hereditary Breast Cancer Genes video.
The image below about the PTEN gene is from the same Beyond BRCA: Hereditary Breast Cancer Genes video.
In addition to Lynch Syndrome, BRCA and PTEN, I found out I have a DPD Deficiency caused by a DPYD gene mutation which can result in severe side effects or death if given the type chemo drug most often used to treat some of the Lynch Syndrome, BRCA, and PTEN related cancers. Testing for this deficiency is required prior to being given the chemo in some countries but not in the United States.
The image below is from the University of Michigan’s Preventing Severe Fluoropyrimidine Toxicity in DPYD Carriers video.
I also have a “Possible Detection” of “Uncertain Significance” for an CDH1 mutation. I’m hoping that turns out to be nothing. From what I’ve read about CDHI1, the recommendation for people who have that mutation is to have their stomachs removed due to the high risk of aggressive stomach cancer. A VUS (Variant of Uncertain Significance) can change to benign or pathogenic as more research is conducted.
I’ll be bringing my genome sequencing printouts to my doctor’s appointment later this month and figuring out the next steps. Luckily, the cancer center I already go to for Multiple Myeloma has high risk clinics for people with Lynch Syndrome and BRCA mutations. I decided to create this blog to document my journey and raise awareness of hereditary cancer syndromes.
2 thoughts on “The Beginning – Multiple Myeloma, Lynch Syndrome, BRCA, & PTEN Mutations”
I had no idea. How brave of you to share your journey. I am praying for strength and healing. Sending love, prayers and positive energy your way.
Thank you Brooke