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Needing help for my Mum

Forums Mucosal Melanoma Community Needing help for my Mum

  • Post
    Ashykay
    Participant

      Hi there. I am a family member of someone with a secondary melanoma, that
      being my Mum. My Mum is 52 and was a "sun worshipper" here in Australia back in her day. Since
      then, however, she has been extremely careful with her skin and had it
      checked at regular intervals, with nothing ever picked up. After Easter this
      year, my Mum experienced significant pain in her right leg as well as pins
      and needles in this area. Her GP referred her for an MRI thinking it was a

      Hi there. I am a family member of someone with a secondary melanoma, that
      being my Mum. My Mum is 52 and was a "sun worshipper" here in Australia back in her day. Since
      then, however, she has been extremely careful with her skin and had it
      checked at regular intervals, with nothing ever picked up. After Easter this
      year, my Mum experienced significant pain in her right leg as well as pins
      and needles in this area. Her GP referred her for an MRI thinking it was a
      pinched nerve in the back. They instead have found a 4cm x 4cm tumour at the
      bottom of her spine. They believe this tumour to be sitting on a nerve,
      hence the pain. Further, it has come back as a c-kit positive melanoma, and
      they are unable to find the primary source (it is also not showing up in PET
      scans). Further, they have discovered a small tumour at the top of her leg.
      All other scans came back clear in other organs, as well as lymph nodes. The
      testing has occurred over a period of approximately 3 – 4 weeks, fo which my
      Mum is now concerned that doctors have "wasted precious time" in having more
      and more tests and her being referred to about 8 doctors! Surgeons have also
      passed her off as a no-go, though a 9 month recovery time without having
      radiation probably wouldn't have been an option for her anyway.

      She has started radiation on these tumours and we (and the doctors) are hopeful that this will
      significantly decrease the zize of the largest tumour and eliminate the
      smaller tumour. My Dad, family and I are now looking into what can be done
      after radiation if the tumour is not entirely eradicated.

      The doctors have raised the possibility also (and I suspect due to the absence of evidence of a primary site) that this could be a mucosal melanoma, and is "extremely rare" and not much known/not many options.

      I was firstly wondering if anyone else has had a similar melanoma – my Mum's
      seems to be extremely rare and I would love to hear from someone with a
      similar experience. Secondly, I have heard of Gleevac and some other
      important drugs and medical trials which are responding to c-kit positive
      mutations of melanoma. We're looking into getting Mum tested for c-kit mutation as well as BRAF mutation. Is anyone able to provide information of someone contactable in Australia, the US, or anywhere really who is a leader in this area?

      Many thanks for your help – much appreciated. Feeling a little desperate and needing to hear the voices of others at this time….

    Viewing 11 reply threads
    • Replies
        MichaelFL
        Participant

          Someone named JerryfromFauq on this board has a similar circumstance, and has been on Gleevec for quite some time now. He does not show up as often as he used to, so perhaps if you do not get a response from him soon, maybe you can repost with something like C-KIT, mucosal and gleevec in your title to get more attention to your post.

          In the meantime, I will send him a email.

          There are also a few others from Australia on this board as well. Frank and JamesfromSydney come to mind. Not sure if they can assist with your specific circumstances, but it never hurts to ask.

          Good luck,

          Michael

          MichaelFL
          Participant

            Someone named JerryfromFauq on this board has a similar circumstance, and has been on Gleevec for quite some time now. He does not show up as often as he used to, so perhaps if you do not get a response from him soon, maybe you can repost with something like C-KIT, mucosal and gleevec in your title to get more attention to your post.

            In the meantime, I will send him a email.

            There are also a few others from Australia on this board as well. Frank and JamesfromSydney come to mind. Not sure if they can assist with your specific circumstances, but it never hurts to ask.

            Good luck,

            Michael

            washoegal
            Participant

              I am very confused by this post.  You say the doctors believe this to be mucosal melanoma but as the name implies that would be in the mucous membrane and you said tumors were near the spine and leg.  I understand about your mom's worry about waiting time, I wouldn't be satisfied with hoping to only shrinking tumors especially if they were in places that were operable.

               

              How old is you mom?  Does she have any other complications?  Are you seeing a melanoma specialist? 

              Mary

              Stage 3

                Ashykay
                Participant

                  Hi Mary,

                  Thanks so much for your reply. Sorry my post probably wasn't all that clear. They believe that as they cannot find any trace whatsoever of a primary melanoma on the skin, that it is instead likely to have started in the mucous membrane somewhere and spread from there into the T3 spine and this spot on the leg. They believe that Mum's immune system has fought off the original site or something.

                  To be honest, I'm not sure what to believe/think. She is getting the checks for the BRAF mutation, but the oncologist said he thought it would be extremely unlikely to come back as BRAF mutation (3 – 4%).

                  Hopefully this makes more sense….

                  Cheers,

                  Ashley

                  Ashykay
                  Participant

                    Hi Mary,

                    Thanks so much for your reply. Sorry my post probably wasn't all that clear. They believe that as they cannot find any trace whatsoever of a primary melanoma on the skin, that it is instead likely to have started in the mucous membrane somewhere and spread from there into the T3 spine and this spot on the leg. They believe that Mum's immune system has fought off the original site or something.

                    To be honest, I'm not sure what to believe/think. She is getting the checks for the BRAF mutation, but the oncologist said he thought it would be extremely unlikely to come back as BRAF mutation (3 – 4%).

                    Hopefully this makes more sense….

                    Cheers,

                    Ashley

                  washoegal
                  Participant

                    I am very confused by this post.  You say the doctors believe this to be mucosal melanoma but as the name implies that would be in the mucous membrane and you said tumors were near the spine and leg.  I understand about your mom's worry about waiting time, I wouldn't be satisfied with hoping to only shrinking tumors especially if they were in places that were operable.

                     

                    How old is you mom?  Does she have any other complications?  Are you seeing a melanoma specialist? 

                    Mary

                    Stage 3

                    FormerCaregiver
                    Participant

                      Welcome to our forum. I am from Melbourne.

                      I encourage you to update the profile page for your mum, when you know more details. This
                      will help us to help you better.

                      Sorry to read about the tumours that has been found on your mum's spine and leg. What has
                      the PET scan shown?

                      Your mum could have melanoma with an unknown primary lesion and/or mucosal melanoma,
                      and it is difficult to be sure without knowing more. However, there are a number of
                      treatments available and some of the newer ones look promising. These are usually
                      available through the clinical trials. For more info see:
                      http://www.clinicaltrials.gov/ct2/results?term=melanoma&recr=Open&rslt=&type=Intr&cond=&intr=&outc=&lead=&spons=&id=&state1=&cntry1=PA%3AAU&state2=&cntry2=&state3=&cntry3=&locn=&gndr=&rcv_s=&rcv_e=&lup_s=&lup_e=

                      I found one article that mentions a study from 2008 that was about Gleevec in the
                      treatment of melanoma. See:
                      http://www.sciencenews.org/view/generic/id/62600/title/New_drug_fights_metastatic_melanoma_
                      This is not normally used in melanoma treatment, and I don't know if it is being used for
                      this purpose.

                      The tumour itself needs to be tested for genetic mutations such as BRAF and c-kit. This
                      can be requested when a biopsy is taken. What type of oncologist is your mum seeing at the
                      moment?

                      Hope this helps

                      Frank from Australia

                      FormerCaregiver
                      Participant

                        Welcome to our forum. I am from Melbourne.

                        I encourage you to update the profile page for your mum, when you know more details. This
                        will help us to help you better.

                        Sorry to read about the tumours that has been found on your mum's spine and leg. What has
                        the PET scan shown?

                        Your mum could have melanoma with an unknown primary lesion and/or mucosal melanoma,
                        and it is difficult to be sure without knowing more. However, there are a number of
                        treatments available and some of the newer ones look promising. These are usually
                        available through the clinical trials. For more info see:
                        http://www.clinicaltrials.gov/ct2/results?term=melanoma&recr=Open&rslt=&type=Intr&cond=&intr=&outc=&lead=&spons=&id=&state1=&cntry1=PA%3AAU&state2=&cntry2=&state3=&cntry3=&locn=&gndr=&rcv_s=&rcv_e=&lup_s=&lup_e=

                        I found one article that mentions a study from 2008 that was about Gleevec in the
                        treatment of melanoma. See:
                        http://www.sciencenews.org/view/generic/id/62600/title/New_drug_fights_metastatic_melanoma_
                        This is not normally used in melanoma treatment, and I don't know if it is being used for
                        this purpose.

                        The tumour itself needs to be tested for genetic mutations such as BRAF and c-kit. This
                        can be requested when a biopsy is taken. What type of oncologist is your mum seeing at the
                        moment?

                        Hope this helps

                        Frank from Australia

                          Ashykay
                          Participant

                            Hi Frank

                            Thanks so much for your post and information, it has been extremely helpful. PET scans showed the 4 x 4cm tumour on the T3 section of the spine as well as a "hot spot" on top of one of the legs. Pet scans did not show up anything anywhere else (though obviously the doctors cannot gurantee there are not "spots" which cannot be seen under PET elsewhere). I added some further info about her oncologist….they don't seem to know much about it as you say here.

                            Thanks again,

                            Ashley

                            Ashykay
                            Participant

                              Hi Frank

                              Thanks so much for your post and information, it has been extremely helpful. PET scans showed the 4 x 4cm tumour on the T3 section of the spine as well as a "hot spot" on top of one of the legs. Pet scans did not show up anything anywhere else (though obviously the doctors cannot gurantee there are not "spots" which cannot be seen under PET elsewhere). I added some further info about her oncologist….they don't seem to know much about it as you say here.

                              Thanks again,

                              Ashley

                              FormerCaregiver
                              Participant

                                As your mum has only 2 melanoma tumours, I feel that surgery would be the most important
                                thing to consider at the moment.

                                If these can be removed by surgery, then this would be the best thing to do. However, your
                                mum really needs a specialist who is called a surgical oncologist. If she hasn't seen one
                                yet, then I feel that it would be good for her to be referred to one by your GP. I could
                                only find a couple of them in Brisbane, but there must be more around. See:
                                http://healthengine.com.au/search_specialty.php?q=Surgical+Oncology&l=Brisbane&km=capital

                                Best wishes

                                Frank from Australia

                                FormerCaregiver
                                Participant

                                  As your mum has only 2 melanoma tumours, I feel that surgery would be the most important
                                  thing to consider at the moment.

                                  If these can be removed by surgery, then this would be the best thing to do. However, your
                                  mum really needs a specialist who is called a surgical oncologist. If she hasn't seen one
                                  yet, then I feel that it would be good for her to be referred to one by your GP. I could
                                  only find a couple of them in Brisbane, but there must be more around. See:
                                  http://healthengine.com.au/search_specialty.php?q=Surgical+Oncology&l=Brisbane&km=capital

                                  Best wishes

                                  Frank from Australia

                                Phil S
                                Participant
                                  My husband was diagnosed with mucosal melanoma last year, and was c-kit negative. You stated in your post that your mother’s tumor tested as ” c-kit positive melanoma”, so you should be working with a melanoma specialist and most likely your mother would get Gleevec for initial systematic treatment. My understanding is that there aren’t enough mucosal cases for any doctor to specialize in them, so we just went to a melanoma center ASAP. I also understand that once mucosal melanoma has spread that it is treated pretty much the same as any other form of melanoma that has spread, with the exception that it may be c-kit positive (rarely Braf positive) and Gleevec has shown positive results with c-kit mutation. Also, when looking into clinical trials some do exclude mucosal melanoma. Your case would be very unique because as someone else stated mucosal melanoma starts in mucous membranes. I guess her doctors are assuming the primary took care of itself. Good luck to you, and keep advocating for your mother! Valerie ( Phil’s wife
                                  Phil S
                                  Participant
                                    My husband was diagnosed with mucosal melanoma last year, and was c-kit negative. You stated in your post that your mother’s tumor tested as ” c-kit positive melanoma”, so you should be working with a melanoma specialist and most likely your mother would get Gleevec for initial systematic treatment. My understanding is that there aren’t enough mucosal cases for any doctor to specialize in them, so we just went to a melanoma center ASAP. I also understand that once mucosal melanoma has spread that it is treated pretty much the same as any other form of melanoma that has spread, with the exception that it may be c-kit positive (rarely Braf positive) and Gleevec has shown positive results with c-kit mutation. Also, when looking into clinical trials some do exclude mucosal melanoma. Your case would be very unique because as someone else stated mucosal melanoma starts in mucous membranes. I guess her doctors are assuming the primary took care of itself. Good luck to you, and keep advocating for your mother! Valerie ( Phil’s wife
                                    Tim–MRF
                                    Guest

                                      Sorry to hear this news about your mom.  I know it is frightening and confusing.  You are thrown into a world of terms and acronyms you never heard before.

                                      If your mom is c-kit positive as you say, then it is entirely likely the melanoma is mucosal or acral.  If your mom is caucasion then the push would definitely be toward mucosal.

                                      C-kit is almost never mutated in cutaneous melanoma, but is mutated at fairly high levels in both mucosal and acral melanoma.  BRAF mutation is very rare in those types of melanoma.  I have never heard of anyone having both the c-kit mutation and the BRAF mutation.

                                      What likely happened is your mom had a primary in the mucosal membrane–mouth, anus, vagina–that her immune system found, attacked, and destroyed.  Before this happened, some melanoma cells escaped the primary site and traveled to other parts of the body.

                                      The good news is that some good drugs exist that block the function of c-kit.  Most of these were developed for leukemia; in certain types of leukemia a high percentage of patients have c-kit mutations.  Gleevec is one of those drugs, but others exist.

                                      Yervoy, an immunotherapy drug recently approved in the US, is being tested in mucosal melanoma and is showing some positive results in early studies.  The drug is from Bristol Myers Squibb and they may have more information on current studies.

                                      You may want to reach out to the Melanoma Patients Australia.  Lisa McFadyn is the CEO and she is very smart and very helpful.  MPA offers support groups for melanoma patients and they may be able to connect you with another mucosal melanoma patient in Australia.

                                      Tim–MRF

                                      Tim–MRF
                                      Guest

                                        Sorry to hear this news about your mom.  I know it is frightening and confusing.  You are thrown into a world of terms and acronyms you never heard before.

                                        If your mom is c-kit positive as you say, then it is entirely likely the melanoma is mucosal or acral.  If your mom is caucasion then the push would definitely be toward mucosal.

                                        C-kit is almost never mutated in cutaneous melanoma, but is mutated at fairly high levels in both mucosal and acral melanoma.  BRAF mutation is very rare in those types of melanoma.  I have never heard of anyone having both the c-kit mutation and the BRAF mutation.

                                        What likely happened is your mom had a primary in the mucosal membrane–mouth, anus, vagina–that her immune system found, attacked, and destroyed.  Before this happened, some melanoma cells escaped the primary site and traveled to other parts of the body.

                                        The good news is that some good drugs exist that block the function of c-kit.  Most of these were developed for leukemia; in certain types of leukemia a high percentage of patients have c-kit mutations.  Gleevec is one of those drugs, but others exist.

                                        Yervoy, an immunotherapy drug recently approved in the US, is being tested in mucosal melanoma and is showing some positive results in early studies.  The drug is from Bristol Myers Squibb and they may have more information on current studies.

                                        You may want to reach out to the Melanoma Patients Australia.  Lisa McFadyn is the CEO and she is very smart and very helpful.  MPA offers support groups for melanoma patients and they may be able to connect you with another mucosal melanoma patient in Australia.

                                        Tim–MRF

                                        Ashykay
                                        Participant

                                          Hi all,

                                          Firstly, thank you ALL so much for your replies. It is so good to know that there are others out there. As you would know, I am a family member (i.e. daughter) of someone with Melanoma, and at the moment I really am struggling. I have my good and bad days, and feel like I am going through a bit of a dark period at the moment (of which I am sure you all struggle of course…). I have been sharing your comments with my Dad who wishes to express his thanks and that the links and resources you have already spoken about have been extremely helpful.

                                          For more background:

                                          A bit on my Mum & my family: she is 52 years old. There is 5 of us in the direct family. I am 25. 

                                          My Mum is seeing a specialist medical oncologist here in Brisbane, Australia and he is organising access to Gleevec.  While Mum is having radiation therapy, tests are being carried out to see if the tumours have either BRAF or KIT mutation.  It has been partly through our (being my Dad and me) search on the internet that has added the KIT mutation test to be done at this stage.  This info will hopefully give an indication as to the type of melanoma and the possible success with Gleevec. Her oncologist is accessing Gleevec, despite any KIT mutation (he believes access (not success however) is not reliant on a KIT mutation, only being C-KIT positive.
                                           
                                          The pathology tests currently indicate; "On balance, the moderately strong staining for S-100 protein in conjunction with c-kit positivity and rare cells staining with the pan melanoma antibody cocktail with no pericellular type IV collagen tends to favour malignant melanoma over a malignant peripheral nerve sheath tumour or sarcoma".  The tests included a positivity for c-kit which is probably the only thing that could suggest a mucosal melanoma given that that she has had never had any indication of a primary skin cancer.

                                          Hopefully this gives some more context…I will keep updating as her radiation progresses, but again am so thankful for the information that also already been posted here which we will continue to investigate.

                                          Cheers,

                                          Ashley

                                          Ashykay
                                          Participant

                                            Hi all,

                                            Firstly, thank you ALL so much for your replies. It is so good to know that there are others out there. As you would know, I am a family member (i.e. daughter) of someone with Melanoma, and at the moment I really am struggling. I have my good and bad days, and feel like I am going through a bit of a dark period at the moment (of which I am sure you all struggle of course…). I have been sharing your comments with my Dad who wishes to express his thanks and that the links and resources you have already spoken about have been extremely helpful.

                                            For more background:

                                            A bit on my Mum & my family: she is 52 years old. There is 5 of us in the direct family. I am 25. 

                                            My Mum is seeing a specialist medical oncologist here in Brisbane, Australia and he is organising access to Gleevec.  While Mum is having radiation therapy, tests are being carried out to see if the tumours have either BRAF or KIT mutation.  It has been partly through our (being my Dad and me) search on the internet that has added the KIT mutation test to be done at this stage.  This info will hopefully give an indication as to the type of melanoma and the possible success with Gleevec. Her oncologist is accessing Gleevec, despite any KIT mutation (he believes access (not success however) is not reliant on a KIT mutation, only being C-KIT positive.
                                             
                                            The pathology tests currently indicate; "On balance, the moderately strong staining for S-100 protein in conjunction with c-kit positivity and rare cells staining with the pan melanoma antibody cocktail with no pericellular type IV collagen tends to favour malignant melanoma over a malignant peripheral nerve sheath tumour or sarcoma".  The tests included a positivity for c-kit which is probably the only thing that could suggest a mucosal melanoma given that that she has had never had any indication of a primary skin cancer.

                                            Hopefully this gives some more context…I will keep updating as her radiation progresses, but again am so thankful for the information that also already been posted here which we will continue to investigate.

                                            Cheers,

                                            Ashley

                                        Viewing 11 reply threads
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