In an interesting turn of events, my Mom (75f) just had preliminary cytology results come back indicating B cell related lymphoma or leukemia. They are leaning towards chronic lymphocytic leukemia (CLL)/ small lymphocytic lymphoma but she will need a BMB/additional diagnostics to be sure.
I've been working on my family genealogy and recently discovered that my Mom's uncle had a diagnosis of CML (chronic myeloid leukemia) on his death certificate. And my Mom's sister had a rare blood condition called agammaglobulinemia (not a cancer) wherein
her body didn't produce the B & T cells required for immunity from her stem cells.
I've been told that PV/MPN's are not hereditary but with this many blood related cancers/disorders within my family, I'm scratching my head. If my Mom has CLL/SLL I've been told I have a risk of developing it too as a first level relative even though I've already got a blood cancer (they can co-exist), but of bigger concern to me is my kids. I know there is nothing that can be done to prevent it if the mutation is already present, but my daughter in particular is worried about having her own children if this is something with a familial component.
Does anybody have knowledge/experience with this they can share?
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originalmyndzi
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Interesting and complex subject, and way above my comprehension level. I'm aware that my grandfather died of an acute leukemia, but not sure if it was AML, ALL, or an even rarer type. My interpretation of the research I have gleaned is that MPNs are not hereditary, but there may be an inherited predisposition. Environmental predisposition has also been noted, such as the correlation with benzene.
The research article linked below regards "Inherited predisposition to myeloproliferative neoplasms". It states "It is clear that germline factors play an important role in the pathogenesis of MPN, and it will be informative to see how this inherited variation modifies initiation, phenotype, clinical course and transformation driven by acquired mutations. Further candidate and systematic studies will define more risk variants with variable frequencies and degrees of penetrance, but none are expected to be as striking as that observed for JAK2 46/1. Far less is known about what drives familial MPN, but it is expected next-generation sequencing will enable the discovery of further rare, highly penetrant variants."
While the classic MPNs are not inherited, there are clusters of MPNs and other blood cancers in families. This is referred to as Familial MPNs. One aspect of this is thought to be the predisposing JAK2 46/1 (GGCC) haplotype. This genetic predisposition to acquiring the JAK2 mutation can be inherited.
There are other potential genetic links that may bear on a predisposition to blood cancers. These include BRCA1/BRCA2, RUNX1, CEBPA, GATA2, Li-Fraumeni syndrome, NF1 and more. there are also predisposing autoimmune diseases and immunodeficiencies that may have a genetic component.
There are also other issues that may bear on familiar blood cancer clusters. Shared environmental factors such as exposure to carcinogens, and predisposing viral infections can also play a role. Shared lifestyle factors can also play a role, including smoking, alcohol, diet and obesity.
My family is one of the demonstrations of MPN/blood cancer clustering. I have the JAK2 mutation, PV that progressed from ET. My daughter is also JAK2 positive and has ET that may be progressing to PV. Two of my brothers have had Non-Hodgkin's B-Cell Lymphomas. My Mother's side of the family has a history of lymphomas/leukemias. Genetics definitely plays a role in this phenomenon.
There is data in the literature about this topic. Here are a few references. There is more available and more emerging in the current research.
I have close relatives who not only had blood cancers, but were diagnosed at relatively young ages and died from aggressive ones, including my mother (dx in her 40's and died within 3 years). My mother was treated and died at a comprehensive cancer center, I plan to ask for her medical records. I won't get genetic info given the era of her death, but I'll look for patterns and any other hints. Her medical records may have more information, too, on other close family members with MPNs, such as my aunt who had PV in her 30's, and died in 6 months when it advanced to AML. I was just diagnosed with ET Jak2+ in December and am just sorting all this out.
I share the same questions...my grandfather, mother's side had blood cancer. I believe that he had CML, but up until a few weeks ago I had always believed that my mother had CML too because that's what she told me. My mom was diagnosed incidentally on a routine blood exam when she was 55. She died at 66 when it had changed to AML. I just found out (after acquiring her medical) records that she's never had CML, she had ET that progressed to AML. I also have ET. It's all very interesting.
They say MPN's are not hereditary, however, my sister had Polycythemia Vera, another one of my sisters is being worked up for Polycythemia Vera and my son is being worked up for Essential Thrombocythemia that I have. My aunt passed away from ITP a blood disorder where she had low platelets.
I’ve wondered about this, my aunt, mother’s sister, had AML, unfortunately not diagnosed until she passed away in her 60’s, so don’t know if she progressed to that from another MPN.
Both my parents had bowel cancer so thought I would get that, I did have a polyp removed a few years ago so hopefully that was that.
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Recently diagnosed with MF
This is not good enough !!!
ET - a blood cancer or not? Serious or not? Conflicting info....??
Blood pressure 
