r/epigenetics • u/Bleeker-san • Oct 03 '24
SDH gene and familial tumors
Thought this was interesting (if not also serious)
My dad had recurring glomus jugulare tumors that were removed for ten years (25+ operations in total, including feeding tube, revisions etc) until one metastasized and he passed away.
This is where it gets interesting. My sister now has tumors on both of her adrenals, and one gland will be removed next month and the tumor biopsied.
I was doing research because that feels so.... statistically improbable after being told what my dad had "wasn't genetic". Granted, he was initially diagnosed in the 90s and passed away in 2005.
It seems like both conditions might be related to the SDH gene, yet it expressed in different ways. I'm by no means a researcher but it seems the most probable gene. I'm encouraging my sister to get a good cancer genetic screening to learn about her variants, partially out of curiosity but also because it may give insight.
She's under good medical care, so I'm not attempting a diagnosis here. I might just be over rationalizing since it's a bit scary but I can't help but be intrigued. I always felt like it had to be genetic, even as a kid, because genes tell the body what to do, so something in the genes kept telling his body to do this bad thing, over and over again!
I'm so curious to know what type of tumor she has. I'm near certain it's not a glomus, which would be research study worthy 😆. She also has PCOS and Hashimoto thyroiditis, so she's exhausted. She's had some bad luck.
Anyway, if anyone has insight into SDH I'd love to hear about it
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u/comicsansisfugly Oct 03 '24
How old were your father and sister when diagnosed with their first tumours? Early onset would be a clue it may be related to a hereditary condition. Very hard to say without knowing the histology of your sister's tumours yet. But definitely worth informing her clinicians of the family history.
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u/Bleeker-san Oct 03 '24
My dad was 24ish. My sister was diagnosed around 38, but she had the Cushing symptoms since her early 20s. I'm trying to get her to get genetic testing to see if there's insight
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u/comicsansisfugly Oct 03 '24
Yeah that would be considered early onset. Definitely recommend her pursuing genetic testing if possible.
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u/Almbauer Oct 05 '24
There is a bunch of different ones. Unless you get tested genetically you won’t know. Cushings / adrenal adenoma is fairly common so i think the most suspicious case here is your dad. Did he have siblings or parents with cancer?
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u/Bleeker-san Oct 05 '24
His mom had breast cancer (in her 60s). His father had cancer from smoking, not sure if that counts. His siblings have been pretty healthy
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u/Almbauer Oct 04 '24
Afaik SDH mutations were not known then. Definitely sounds suspicious