Genetics, chromophobe RCC and children

sblairc
sblairc Member Posts: 585 Member
in Kidney Cancer #1

I was wondering if anyone that is diagnosed with this type of RCC (non-clear cell, chromophobe) has ever met with a geneticist out of concern for their children? I'm not sure we got the best advice from our oncologist based on what we heard yesterday at a conference (brief reference was made that chromophobe may be a genetic cancer). 

 

Any thoughts or advice would be appreciated. Our daugher is very young, but with the huge amounts of cancer on my husbands side of the family (8/12 of his aunts or uncles on his mom's side had cancer including 3 uncles with prostate and 3 others with colon cancer) we are considering exploring genetic testing. 

Comments

  • sblairc
    sblairc Member Posts: 585 Member
    #2
    Also, under 50

    Oh, FYI, My husband is also "young" as in under 50. Many of his aunts and uncles were too when they were diagnosed. 

  • NanoSecond
    NanoSecond Member Posts: 653
    #3
    Are you sure?

    I am chromophobe with absolutely no other family members (on either side) who have ANY history of cancer be it kidney or otherwise. 

    To date I have never seen reference to chromophobe being a "genetic" cancer.  What does your oncologist base this on?  Can you find out what, if any, research has been published to back up his claim?

    When children develop kidney cancer it is usually suspected that they may have a genetic mutation that is behind their RCC - but not vice aversa.

  • sblairc
    sblairc Member Posts: 585 Member
    #4
    NanoSecond said:

    Are you sure?

    I am chromophobe with absolutely no other family members (on either side) who have ANY history of cancer be it kidney or otherwise. 

    To date I have never seen reference to chromophobe being a "genetic" cancer.  What does your oncologist base this on?  Can you find out what, if any, research has been published to back up his claim?

    When children develop kidney cancer it is usually suspected that they may have a genetic mutation that is behind their RCC - but not vice aversa.

    Our onc said "no" but a geneticist said "chromophobe"

    Our oncologist said we had no need to worry about it. But yesterday at the Cedars Sinai conference a geneticist gave a talk (confusing on many levels) but I was pretty sure she made  reference to chromophobe as possibly being genetic. At least this was my understanding of what she was referring to. It could be emerging research on some level. 

     

  • NanoSecond
    NanoSecond Member Posts: 653
    #5
    sblairc said:

    Our onc said "no" but a geneticist said "chromophobe"

    Our oncologist said we had no need to worry about it. But yesterday at the Cedars Sinai conference a geneticist gave a talk (confusing on many levels) but I was pretty sure she made  reference to chromophobe as possibly being genetic. At least this was my understanding of what she was referring to. It could be emerging research on some level. 

     

    Thanks

    Many thanks.

    If you remember her name I would be interested to find out if she has published any papers on this issue.

    Depending on the histology (i.e. clear cell; chromophobe; papillary; etc.) different genes may be mutated.

    But significantly, in every single kind of renal cancer those mutated genes are those that effect basic cell metabolism.  That is why Dr. W. Marston Linehan of the NIH/NCI refers to kidney cancer as a perfect example of cancer as a metabolic disease.

    Perhaps the speaker was referring to the different kinds of oncogenes and/or tumor suppressor genes that may be mutated based on histology?  For example, many clear cell histologies occur in association with an inherited genetic disease known as von Hippel-Lindau syndrome (mutated VHL gene) whereas Birt-Hogg-Dubé syndrome is frequently associated with chromphobe...

     

  • sblairc
    sblairc Member Posts: 585 Member
    #6
    NanoSecond said:

    Thanks

    Many thanks.

    If you remember her name I would be interested to find out if she has published any papers on this issue.

    Depending on the histology (i.e. clear cell; chromophobe; papillary; etc.) different genes may be mutated.

    But significantly, in every single kind of renal cancer those mutated genes are those that effect basic cell metabolism.  That is why Dr. W. Marston Linehan of the NIH/NCI refers to kidney cancer as a perfect example of cancer as a metabolic disease.

    Perhaps the speaker was referring to the different kinds of oncogenes and/or tumor suppressor genes that may be mutated based on histology?  For example, many clear cell histologies occur in association with an inherited genetic disease known as von Hippel-Lindau syndrome (mutated VHL gene) whereas Birt-Hogg-Dubé syndrome is frequently associated with chromphobe...

     

    Yes, that might be what she meant

    It is possible that is she was making reference to certian syndromes being associated with chromophobe.  Her name is Ora Karp Gordon and she is listed on the Cedars Sinai web site. 

  • NanoSecond
    NanoSecond Member Posts: 653
    #7
    sblairc said:

    Yes, that might be what she meant

    It is possible that is she was making reference to certian syndromes being associated with chromophobe.  Her name is Ora Karp Gordon and she is listed on the Cedars Sinai web site. 

    Many thanks

    It looks like her main area of expertise is Breast cancer:

    http://www.cedars-sinai.edu/Patients/Programs-and-Services/GenRISK-Adult-Genetics-Program/Expert-Team/Ora-Karp-Gordon-MD-MS.aspx

     

  • TillieSOK
    TillieSOK Member Posts: 252
    #8
    sblairc said:

    Our onc said "no" but a geneticist said "chromophobe"

    Our oncologist said we had no need to worry about it. But yesterday at the Cedars Sinai conference a geneticist gave a talk (confusing on many levels) but I was pretty sure she made  reference to chromophobe as possibly being genetic. At least this was my understanding of what she was referring to. It could be emerging research on some level. 

     

    I was genetically tested

    I was genetically tested because Chromophobe and Birt-Hogg-Dube has been linked together as a genetic possibility.  I was tested so that I could know if my children needed to be tested for the predisposition toward CHRCC.  My tests were negative although I did have several of the criteria listed....just didn't have the wacked out gene, Thank God.  Emory University is the one my blood sample was sent to.  It's like the oncologist told me....the anomaly has to start somewhere for this type of kidney cancer.  Good luck.

  • sblairc
    sblairc Member Posts: 585 Member
    #9
    TillieSOK said:

    I was genetically tested

    I was genetically tested because Chromophobe and Birt-Hogg-Dube has been linked together as a genetic possibility.  I was tested so that I could know if my children needed to be tested for the predisposition toward CHRCC.  My tests were negative although I did have several of the criteria listed....just didn't have the wacked out gene, Thank God.  Emory University is the one my blood sample was sent to.  It's like the oncologist told me....the anomaly has to start somewhere for this type of kidney cancer.  Good luck.

    Ok, I think I am understanding things. Maybe. . .

    Thanks, TillieSOK. So does that mean you were confirmed to have BHD syndrome and that was why you got the genetic tests? To the best of our knowledge my husband doesn't have it, unless you can have it without the obvoius symptoms that are visible. 

  • TillieSOK
    TillieSOK Member Posts: 252
    #10
    sblairc said:

    Ok, I think I am understanding things. Maybe. . .

    Thanks, TillieSOK. So does that mean you were confirmed to have BHD syndrome and that was why you got the genetic tests? To the best of our knowledge my husband doesn't have it, unless you can have it without the obvoius symptoms that are visible. 

    No...my genetic test showed I

    No...my genetic test showed I did not have BHD, even though I had some of the traits (ancestry, skin lesions, etc) that they look for, I did not have the chromosomal mutation that confirms BHD.  It is actually quite rare, thank goodness.

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