Alex from California - Dx Aug 2018 at 19

[Janice]

Hi all. My son Alex was diagnosed at 19 in 2018. The primary tumor had been in his thigh for almost 2 years. We had been assured it was a lipoma. We finally scheduled removal with a plastic surgeon only then to be made aware it was not a fat mass during the attempted extraction. On to the roller coaster. Alex had the primary ASPS tumor (3.4 x 2.9 x 2.7 cm) and his entire rectus femoris removed in September - he is currently skiing again. At surgery his lung CT was clear and in December he had a Xray of his lungs and a MRI of his leg. The results are still clear. Next scans will take place in April.

Here is my question. I have found a doctor willing to take his tumor. It is currently stored at Kaiser in the San Francisco - which is not a research institution. It seems a waste to have it in storage not serving science. Has anyone else had their primary tumor studied? for what? Genetic testing? Can the forms of ASPL-TFE3 fusion proteins Type I or II be determined? Alex and I both share sperocystsis - a genetic anomaly also on the 17 chromosome though it may not have any bearing on ASPS. Thoughts?

[D.ap]

Hello and welcome .

I’m sorry for Alex’s diagnoses but want to thank you for sharing the experience and information that you have .
Been reading on ANK1 gene and sperocystsis.
Had Alex been deemed a severe case or what was he assessed as ?
The asps 1 and 2 can be seen with molecular study is my understanding.

https://www.cureasps.org/two-new-resear ... pe-2-asps/

Here’s a link to the Libby Shriver sarcoma that shows a panel difference between 1 and 2 under fig5(pathological findings)

http://sarcomahelp.org/asps.html


Also tumors can be donated to this forum.:)

http://www.cureasps.org/?page_id=22

[Janice]

Thanks for the response Debbie.

The sperocystsis has been handed down generationally in my family. Dominant gene. My grandfather, my mother, me and Alex. We all had our spleens removed at various ages. In Alex's and my case - around 7, after our immunities were developed and before the spleen was working overtime to filter the misshapen football vs donut blood cells out of our blood stream. All of us have lived just fine without a spleen and stay on top of our pneumonia vaccines.

I just wondering about any correlations....since ASAP and sperocystsis both involve the 17 chromosome.

I count our lucky stars that after two years there are no mets!

Still curious what the tumor would be analyzed for? I will of course following up with the doctors here but wondered what the community might know so I can make informed requests.

[arojussi]

I try to be polite here. Unfortunately as far as I know genetic testing hasn't helped much in asps. Mutational burden is very similar in most asps cases, so you can just read, what others have learned with their genetic testing and information can be applied to your case most likely. Asps is always caused by aspl-tfe3 fusion gene. This results in increased angiogenesis. This allows 2 medical treatments. First of all tki can inhibit angiogenesis, but this is almost never curative. Surprisingly immunotherapies like pd1-inhibitors work miracles in asps even in metastatic settings. This is weird, because usually immunotherapies work well against cancers with high mutational burden. Breelyn Wilky found, that high angiogenetic activity was connected to better response in sarcomas when treated with axitinib and Keytruda.

There are indeed two aspl-tfe3 fusion genes. Other is most likely more aggressive, but in the end treatment is similar. Before pd1-inhibitors best treatment was surgical or ablative removal of all possible tumors.

As genetically asps looks like terrible target for immunotherapy molecular studies can make it difficult to convince doctor to try it. And this can make it difficult to survive.

[D.ap]

Morning Janice
If your question is if ASPS is heritary , then the answer is no. We asked that question to our sarcoma surgereon and first oncologist , 7 years ago.

However here is a link specific to ASPS and other rare sarcomas , that you might want to check into.


https://rarediseases.org/rare-diseases/ ... ma/#causes

Let us know how Alex is doing! :)
Love

[Janice]

Hi Community -

There may be a better place for this post.

As I, and I am sure others, struggle with what to do with when this diagnosis touches our lives. I thought I would share a philanthropic avenue.

I am sure there are other worthy researchers but Dr. Wilky formerly of Miami resonates with me.

Breelyn A. Wilky, MD
Associate Professor
Director of Sarcoma Translational Research
University of Colorado Anschutz Medical Campus
School of Medicine | Department of Medicine, Medical Oncology
http://medschool.ucdenver.edu/medicine/oncology

Her institution and all of us would be grateful for supporting research to help us find better treatments and a cure. The easiest/fastest way to give is online: https://giving.cu.edu/fund/villalobos-s ... earch-fund

By checking the box noting that the gift is in honor of someone, and list Dr. Wilky’s name there, will ensure that the proceeds given will support her ASPS research efforts specifically.

[Bonni Hess]

Dear Janice, My name is Bonni Hess, mother of now 36 year old Brittany who was, like your dear son Alex, diagnosed at age 19 with the primary tumor in her thigh. She has courageously battled this insidious disease for the past 17 and a half years through 23+ surgeries/ablations/radiosurgeries and 3 Clinical Trials, and is currently on a Cediranib Clinical Trial in Edmonton, Alberta which has very thankfully provided her with dramatic shrinkage/disappearance of her previous innumerous and widely disseminated mets and almost 10 years of long term sustained disease stability. If you are interested, you can read about Brittany's ASPS experience in this Personal Updates section under her name, as well as in the Other Clinical Trials Cediranib subtopic on the Discussion Board.
I am sorry that I missed your initial post in February about Alex's ASPS diagnosis as I was away from the computer with traveling and being sick with the flu, and am just now getting a chance to go back through the posts that I missed. I am so sorry for Alex's ASPS diagnosis, but am grateful that you found your way to this Forum and that you have reached out for shared information, support, and advice which is invaluable in this difficult battle. I am grateful too that Alex was able to have his primary resected, and that as of his last scan in December does not appear to have had any metastasis to his lungs. I am however concerned that you said he just had a chest x-ray, instead of a chest CT, which is much more able to detect mets at their smallest possible size. Also, I Hope that he is also being followed with regular abdominal/pelvic scans every 3 months (preferably MRI instead of CT scan to protect against CT scan radiation exposure), and an initial base line brain MRI and full body bone scan, both of which should be done at least once a year if no mets are found. Regular and vigilant scans are critically important in adequately monitoring and managing ASPS. Additionally, I Hope that Alex is being treated by an oncologist who is a Sarcoma specialist preferably with ASPS experience which is also critically important.
It is wonderful to hear that Alex has recovered well enough from his primary tumor resection to go skiing!! He sounds like a very strong, active, and determined young man, which is so vitally important in fighting this challenging cancer.
Regarding your question about genetic tumor testing, we had Brittany's tumor tissue tested in 2008 and it was helpful in showing that Brittany's tumor tested low for C-met, but high for VEGF-R. Despite one of her oncologist's telling us that the tumor tissue testing would not be helpful in determining the best systemic treatment for Brittany, interestingly Brittany had a failed response to the ARQ-197 treatment which targets C-met, but has had a very successful response thus far to the Cediranib which targets VEGF. Through our past 17 and a half year ASPS journey, we have learned that doctors don't always know everything, and that it is critically important to be as pro-active, as well researched, and as knowledgeable as possible.
Thank you very much for your shared information about the fundraising site for Dr. Breelyn Wilky's ASPS research. Brittany and I had the great privilege of personally meeting Dr. Wilky at the Miami ASPS Conference two years ago. She is an incredible energetic young woman who is extremely passionate about and dedicated to finding an effective treatment and cure for ASPS. My very best wishes are with you, Alex, and your family on your continued ASPS journey, and I am holding very tight to Hope that you will receive good news of no new mets and disease stability from his upcoming April scans. However, if they are not already scheduled, I strongly encourage you to request a chest CT instead of just a chest x-ray, as well as abdominal/pelvic scans, a brain MRI, and a full body bone scan.
Take care dear Janice, stay strong and pro-active, and keep in touch with this Forum as you are able.
With special caring thoughts, healing wishes, and continued Hope,
Bonni Hess

[D.ap]

Hi Janice
I too feel great respect and admiration for Dr. Wilkys works,passions! : )
Thanks for the links and best wishes to you and your son .
Love

[Janice]

Bonni -

Thanks for the response.

I promptly sent an email to our doctor and the scans will be ordered. Thanks for the push. Now let's hope the doctor interpreting the scans truly knows what they are looking for - I do realize I should be looking over their shoulder - though not sure what I am looking for.

I wonder if metastasis are found - what we will do - seems as if there is no easy path and the roller coaster gets even more terrifying with more information vs head in the sand, ignorance is bliss.

I have read so many personal paths of folks touch with this rare cancer - and there is no definitive path to follow.

Thanks.

[Bonni Hess]

Dear Janice, Thank you for your very thoughtful response. I am grateful that you are moving forward with pursuing my scan scheduling recommendations. Unfortunately,, with ASPS, ignorance is not bliss, and being as well informed and knowledgeable as possible is one of our strongest weapons in fighting it. As difficult as it is to face the harsh reality of the metastatic nature of this insidious disease, it is critically important to be pro-active and vigilant in requesting/insisting on regular, appropriate, and thorough scans to find mets at the smallest possible size and not wait until they become symptomatic. The smaller the mets, the better the chances of being able to successfully surgically remove, ablate, or otherwise treat them. My husband and I are currently in the radiology waiting room at the Univetsity of Washington in Seattle where Brittany is having her 5 month brain and spine MRI scans. Even though she has now VERY thankfully had almost 10 years of disease stability with her Cediranib treatment, we know that she could develop resistance to the Cediranib and subsequent disease progression at any time, so we remain vigilant in scheduling her scans. She is followed with every four month chest/abdominal/pelvic scans for her Ckinical Trial in Edmonton, but since they don't follow her brain, spine, and bones, we schedule those scans separately in Seattle knowing how very unpredictable this challenging disease can be. It does not allow complacency. However, there is great Hope with the promising new Immune Checkpoint Inhibitors (ICI) which have been showing very encouraging success for many ASPS patients. Unfortunately, there is currently no known permanent ASPS cure available but tremendous progress is being made with ASPS research. Please know that Alex, you, and your family are not alone in your battle, and that those of us on this Forum are here to share invaluable anecdotal and researched information, strengthening support, and encouragement with you. Heart to heart with deepest caring, healing wishes, warm friendship, and continued Hope, Bonni

[Janice]

Brain MRI is clear as was the surgery site.

However, it appears, since I have ask for the images on CD - they have been watching two nodules since September that they choose not to tell us about.

"LUNGS: 2 mm subpleural left lower lobe lung nodule on series 4, image 150, stable. 3 mm disc-shaped lung nodule within the left lower lobe on series 4, image 210, stable."

Does everyone wait and see? How long? How many? When do we explore ablation? Do we have an expert in CA?

I will speak to his oncologist tomorrow - I am very surprised this wasn't brought to our attention.

Thanks ahead for any thoughts.

[Olga]

with 2-3 mm size for the lung mets there is nothing you can do local treatment wise. The met that small can not be reliably targeted by any local treatment modality - surgery, cryoablation, radiosurgery etc - they all might miss the target that small. At that size if the nodules are stable, they do not even know if they are mets or not, there are often undetermined nodules present in peoples bodies, they are often benign. So everyone waits to see if they get bigger at all. There is no reliable scanning modality that would be able to say what they are.
The best choice for the lungs cryo is Dr.Littrup - viewtopic.php?f=55&t=1296
if he is not avail. than Dr.Aoun, Dr.Littrup was his mentor for a long time. viewtopic.php?f=55&t=835
the optimal size for the cryo is 10 mm, the optimal time to start preparing for the cryo is 5-7 mm - contact drs, send them CD with the 2 recent consecutive CT scans with the contrast and be watched by them as to when is the treatment time

[Bonni Hess]

Dear Janice, Thank you for your thoughtful update I am very grateful that Alex's brain MRI and scan of his primary tumor site were clear. I am sorry, but unfortunately not surprised given the metastatic nature of this disease, about the two small lung mets. It is very frustrating that the doctors didn't share the information with you about the two small lung mets that they have been following since September. Unfortunately this seems to be a common occurrence that the doctors don't mention nor address small new mets, which is why it is so critically important to be as knowledgeable as possible and very pro-active in obtaining and following CD copies of the scans as you have done. I agree with the advice that Olga has shared with you based on the small size of the lung mets. Also, did Alex have abdominal/pelvic scans as well as a full body bone scan, all of which are essential to adequately monitor this metastatic disease. Take care dear Janice, stay pro-active and informed, and keep in touch as you are able. With special caring thoughts, healing wishes, and continued Hope, Bonni

[Janice]

Thanks Olga and Bonni -

Full body MRI and it appears they looked at the bones...though it what detail I am not sure.

I have ask for the lastest scans and will in the future.

Thanks so much for for the protocol. What would I do without this site!

Janice

[Janice]

Hi all -

My son continues to live life to the fullest - rock climbing and surfing between finishing up his senior year of college.

Like Martin we continue to find the interpretation of the potential lung mets inconsistent:

September 2018
Primary removed 3.4 x 2.9 x 2.7 cm from right thigh along with entire rectus femoris muscle
LUNGS: No metas seen but not they are use this image as a comparison

April 2019
LUNGS: 2 mm subpleural left lower lobe lung nodule on series 4, image 150, stable. 3 mm disc-shaped lung nodule within the left lower lobe on series 4, image 210, stable.

August 2019
LUNGS: 6 mm left lower lobe pulmonary nodule, series 4 image 217, unchanged dating back to September 11, 2018 by my measurement. 2 additional stable 2 mm left lower lobe nodules, one on the major fissure, image 155.

May 2020
LUNGS: Bilateral lower lobe pulmonary nodules measure 5 mm on the left side and 3 mm on the right side. These are stable dating back to 9/11/18. No new pulmonary nodule.

October 2020
LUNGS: COMPARISON: 05/13/2020, 9/11/2018 The 5 mm pulmonary nodule left lower lobe image #214 series 4 is a stable since 2018.
There is a 3 mm right lower lobe pulmonary nodule is not well visualized. There is no evidence of new pulmonary nodule.

I am thankful for stability. I would appreciated knowing if anyone knows of a doctor in the US that does cryoablation so we are prepared if/when the time comes.

I feel at a lost to review the scans myself though I am gathering the CDs.

Happy Fall.