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Genetics of CLL in Mother and MF-MDS in Child
My mother was diagnosed with CLL in her early 30’s. I was diagnosed with an ASD with AF. ASD repair with RHF and RBBB. I was diagnosed with Multiple Factorial MDS in 2014. BM biopsy normal morphology. Chronic low RBC’s and Platelets with high RDW-SD. Could there be a genetic mutation passed down from parents (father dead but he was diagnosed with prostate cancer) that could be responsible for my findings? And would chromosomal testing on my blood be of any benefit? Thanks you Mayo!
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My ASD wasn’t discovered until I was in my 50’s.
I don't believe there is a single genetic mutation of interest, but there may be a family predisposition for blood cancer. I've had this conversation with both my Mayo CLL specialist and a specialist at NIH. There is no one suspect mutation. Even identical twins are not guaranteed to have CLL. There have been cases where one gets it and the other doesn't so environmental issues are likely in play.
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2 ReactionsThank you for the timely and informative feedback. You actually confirmed my same understanding of any possible hereditary defects being passed down to me. I have to agree with you regarding the possibility that my development of Multifactorial MDS is environmentally or possibly chemically triggered. During my Pathology residency rotation through Cytology, Histology and Hematology in the mid 70’s I had extended exposure to unvented chemicals and stains such as ETOH, Acetone, Benzene, Toluene, and Mercury vapor and skin exposure along with South Georgia well water, and exposure to banned pesticides and herbicides being used in area from 2009-2015. Back in the days prior to knowing any potential hazards associated with prolonged day to day exposure! I guess I’ll just monitor Hematology indices quarterly and hope I’m not in the 33%tile to progress to AML. iron supplements zip, iron and then erythropoietin infusions showed no notable improvement in levels! Once again, thank you! Patrick