Alice from UK - diagnosed August 2017 aged 4

[stuartt]

Hi,

Long time lurker here who is very thankful to have found this forum!

We've now reached a crunch point in our story where your opinions on the course of action would be greatly appreciated.

After a couple of months of our daughter Alice having nosebleeds and heavy snoring, and many trips to the GP and practise nurse where we were told it was nothing to worry about, we were finally referred to an ENT specialist with the expectation that she might need her Adenoids out. When my wife asked what waiting time was she was told 18 weeks(!) at which point we decided to seek a private ENT consultant.

He took one look in her mouth, where he could see a lump bulging down on her soft palette , and referred us straight away up to Great Ormond Street.

After a CT scan of chest, an MRI and a biopsy we were given the terrible news that she had a large malignant tumour in her nasalpharanyx with several small metastasis on her lungs.

They thought at this stage it was probably alveolar rhabdomyosarcoma.

Our care was then transferred to the Royal Marsden which we were ok with as they seem to be the cancer specialists and also have the links with the local hospitals in our area (Kent).

We were soon admitted into St George's in Tooting which is a partner hospital to the Marsden, used for paediatric surgery as they have a Paediatric Intensive Care Unit and the Marsden doesn't.

Because of the potential obstruction to her breathing from the tumour they wanted an intensive care bed on hand although every GA she has had has been problem free.

She had a hinkman line inserted with the anticipation of starting chemo, and had bone marrow samples taken at the same time. She also had a bone scan and an ultrasound of her organs (thankfully bone scan / bone marrow / ultrasound all came back clear).

We ended up being in hospital for about 3 weeks whilst she was diagnosed and they treated an infection which unfortunately soon appeared in her hinkman line.

The line turned out to be quite redundant seeing as Alice was eventually diagnosed with ASPS which is chemo resistant, and it was removed.

Whilst in hospital we saw a paediatric ENT surgeon and a specialist Head and Neck cancer surgeon (not a paeds specialist) together to discuss having the primary tumour removed. They were rather blunt in the consultation about their view that such surgery was probably pointless seeing as the cancer had already spread to Alice's lungs - a very upsetting consultation for us - but apparently our oncology team then filled them in on the value of the surgery given the slow growing nature of ASPS so a plan was reached to try and shrink the tumour with some systemic treatment first and then go for surgery. At this stage, they said to us that they thought they could fully remove the tumour, but not with clear margins - hence the attempt to shrink it with systemic treatment first.

Alice has since done two courses of Sunitinib - each course was 28 days of a daily 12.5mg capsule (emptied into a spoon of chocolate spread as she is too young to swallow it whole) followed by 2 weeks recovery.

We have found out that they initial applied to AZ for Cederinib on compassionate grounds but were turned down (our dr has since reapplied).
Also the NHS has declined to fund the Sunitinib, so the Marsden have been funding this treatment themselves. All of which gives us anxiety that we may need to dig deep financially at some point in the future.

She has tolerated the Sunitinib very well indeed - and she has been living a very normal life - turning 5, starting school, trick or treating on Halloween etc..

Blessed normality for us all!

Then it was very recently crunch time - back in hospital for a follow up MRI and CT of chest.

We have our consultation at the Marsden next week to discuss the results - we had been hoping for a phone call with the results but this hasn't happened yet.

In the meantime, on Thursday, we had a brief consultation with the paediatric ENT surgeon (his partner, the head and neck cancer surgeon wasn't present) - he hadn't been in on the MDT meeting to discuss the results but had been told by his partner that whilst there had been a slight reduction to one of Alice's lung spots, there had been no change in her primary tumour, and their thinking was that given she had already had 2 rounds of the therapy, the main tumour was now pretty unlikely to respond.

He therefore proposed surgery for early January, but he stressed this would be debulking surgery, rather than a curative full resection.

This has left us in an agonising limbo, having only half the picture since we've not spoken to oncology and don't know what further treatment, if any, they propose.

I'm left wondering whether debulking surgery is really a good idea? - yes I can see it will reduce the tumour burden, make her breathe easier and maybe make the Sunitinib more effective on what's left- but I do question why they don't try Alice on another systemic treatment first to see if that would shrink her tumour so that a full resection would be possible.

I do have a lot of faith in the Drs at the Marsden , they have been brilliant, and very proactive in discussing options with us such as immunotherapy trials , dna testing of the tumour and proton beam therapy.

At the same time this seems like such a crucial and final step to get right that perhaps I should seek a second opinion from another surgeon on the feasibility of a full resection - which would obviously be a much better option and give us more possibilities for the treatment of her secondaries.

I'm sure things will be much clearer after our meeting, hopefully giving us a path to getting rid of whatever is left behind from the surgery, but your opinions ahead of that greatly appreciated so I can go in fully armed with knowledge and questions.

Many thanks for reading!

Stuart

[D.ap]

Stuart and Alice ,
Morning , from here in the USA
Stuart , I’m truly sorry to hear of Alice’s diagnosis however it sounds like you have a great team of doctors working for you .

If this were me I would get a second opinion from an oral ENT surgeon ( pediatrician ) on the removal of Alice’s tumor.
Anytime a patience has a tumor removed there needs to be an effort to keep the bleeding down as ASPS is very vascular.

How big is the tumor, did they report?

I would also have Alice stay on sutent as when the tumor is removed the tumor can be looked at molecularly to see how well sutent is affecting its reduction.
I bet it is helping some however it’s not being detected just yet.

Having lung tumors should not affect any doctors opinion on fucture surgical procedures.

It sounds as though you are well versed on what is needed.
Let us know what you find out.

Nice to meet you

Our son is Josh

http://www.cureasps.org/forum/viewtopic.php?f=4&t=750

Sincerely
Debbie Pearson

[stuartt]

Hi Debbie,

Thanks for your reply - nice to meet you too!

I don't have the exact dimensions of Alice's tumour - that is one of the things I want to find out - but it has been described as "very extensive".
I think surgery is tricky because of where it is in the nasalpharynx with all the nerves and blood vessels of the skull base nearby.

One question I will have for the Oncologists is going to be : if Alice seem to be having at least some success on the Sutent , evidenced by the lack of disease progression and the shrinkage of one lung met, wouldn't it be a good idea to wait and see if the main tumour could be shrunk down to a size where a full resection was easier?

I'm going to phone ahead of Wednesday's meeting and try and get hold of all scans and the associated reporting - I've asked for this verbally in consultation before but is seems to have been forgotten.

So many times we nod in consultation and then only when the session is over and we've had time to digest do the questions come!

I want to go into this meeting prepared so I can really make it count.

We've been worrying these months about the lung mets never thinking that the excision of the primary tumour would be a sticking point!

Really sorry that you and Josh are also having to deal with asps- it is so unfair it defies all logic.

[D.ap]

Hello again Stuart
I was reading about ASPS imaging and reminded of how important it is in the surgical planning .
Wanted to share this article that gives insight to what the doctors are contemplating
Location and vein feed as well as encapsulating properties.

http://journals.sagepub.com/doi/abs/10. ... lCode=acrc

This reading brought back some facts that I hadn’t had to think of for a while , as we haven’t had surgery since 2012.
Asps generally has what’s called a pseudocapsule so as to “contain “ the primary ,as well as mestatic tumors . With that being said , I will be hoping for complete , positive margins being seen on the Mri and Ct scans , so as to achieve positive margins for Alice’s surgery .
At the very least the complete removal of the tumor.

Also was reminded of the importance of getting a copy of the CT and MRI discs in case you want to send out of network , to get a second opinion, if need be.

In case you didn’t notice with the personal section, here are other parents in England fighting ASPS.

http://www.cureasps.org/forum/viewtopic.php?f=4&t=1248


http://www.cureasps.org/forum/viewtopic.php?f=4&t=1360


And last but not least, thank you for your thoughts on Josh.
I agree . Asps defies logic and is truly unfair.

[Olga]

Stuart,
1. You should wait till the consultation at the Marsden next week to discuss the results. The stability on a sutent is a good result and the shrinkage can follow later, I would try to shrink a tumor since there are no good margins possible now. I would expect it to be approved finally.

2. If the surgery happens, I would ask the Royal Marsden sarcoma oncologist to find and arrange the designated sarcoma surgeon, not the ent.

3. The other option if sutent stops working or won't shrink after few more months is Keytruda. We have a sample Keytruda appeal letter, I will post it later in the systemic treatments area.

4. There is also an option of having a chemotherapy treatment on a clinical trial - ask them if there is any trial with the PD-1 or PD-L1 blocking drugs, or in combination with the radiation therapy.
5. There is also an option of having a radiation treatment added to a systemic treatment, ASPS is a radioresistant disease but in combination with the PD-1 inhibition we have few better than usual results when the primary responded very well, given between the PD blocking treatments. You should tell that to the sarcoma oncologist at the RM
http://www.cureasps.org/forum/viewtopic ... 4&start=15

[Olga]

Ans ask them if nothing works, could they send her for a treatment with the ion radiation therapy
https://www.klinikum.uni-heidelberg.de/ ... .html?&L=1

[stuartt]

Thanks very much Olga and Debbie for your replies.

I think I will just ask for the scans and reports when I phone today and then raise all these issues at the meeting on Wednesday.

It is interesting the idea of the sarcoma primary tumours being self contained within their own membrane - I wonder if this is the case in all locations of the body?

I agree we should seek at least seek the opinion of a sarcoma surgeon - they have one at the Marsden I think , and maybe he/she has already been consulted.

Presumably they felt the expertise of the head and neck cancer surgeon would be more useful given the difficult location but I want to make sure they are aware of the particular nature of sarcoma tumours.

As you've both pointed out there are many systemic and radio based options apart from Sunitinib, so I'll really need to be persuaded that we shouldn't explore these first and try and shrink the tumour to a position where there are margins possible before attempting surgery.

[Bonni Hess]

Dear Stuartt, I am so deeply saddened and sorry for your precious young daughter's ASPS diagnosis, but am very grateful that you found your way to this Web site and have now reached out to share your dear Alice's situation and to obtain shared information, input, and support from those of us on this Forum who share your ASPS journey. I am so grateful too that you seem to be very proactive and knowledgeable in seeking treatment for dear little Alice, which is critically important in fighting this extremely rare and very challenging disease. Precious Alice is one of the youngest ASPS patients who I am personally aware of along with dear little Brinley Babbitt who was two years old when she was diagnosed with an abdominal/pelvic area primary tumor five years ago in 2012, and whose mother Crystal Babbitt is an infrequent participant on this Discussion Board, but who you could post a message for. The location of Alice's primary tumor in her nasalpharynx is extremely rare based on my 16 and a half years of ASPS experience, observations, and extensive research. Olga and the others have offered some excellent input and recommendations, and I personally agree with Olga that it is best to continue the Sutent or possibly pursue systemic treatment with one of the promising new PD-1/PD-L1 drugs to try to shrink the primary tumor to make it more resectable. It is critically important to eventually be able to remove/destroy the primary to prevent it from continuing to disseminate tumor cells into the bloodstream. It is infuriating to me that the doctors continue to take a palliative approach to not proactively treating the disease if there is metastasis!! When our then 19 year old daughter Brittany was diagnosed 16 and a half years ago with a large primary tumor in her left thigh, she heartbreakingly already had over 50 mets in each lung. An arrogant Sarcoma "expert" who we sought consultation with at the highly respected cancer hospital MD Anderson in Houston, Texas, coldly told us that there was nothing that could be done to treat Brittany and that we should just return Home to Washington and prepare for her to die!! Refusing to accept his TOTALLY unacceptable advice and dismal prognosis, we have proactively and aggressively fought Brittany's challenging disease through the past 16 and a half years with 23 surgeries/ablations/radiosurgeries, 3 Clinical Trials, and constant extensive dedicated research, communicating, and networking with other ASPS patients and their families. VERY thankfully, our precious Brittany is now 35 years old, has had eight and a half years of disease stability on her Cediranib Clinical Trial, and all of her innumerous and widely disseminated mets appear to have disappeared as they are no longer visible on her regularly scheduled monitoring scans. We have learned that doctors don't always know everything, and especially in regard to this extremely rare, little known, poorly understood, indolent disease. The burden is on the patient/patient's family to be as knowledgeable, well informed, and well researched as possible, as well as to demand appropriate treatment and seek second and third opinions if necessary. This is truly a battle which requires using every available resource. If it has not already been done, I urge you to request and obtain in addition to the chest CT and bone scan that were done, an abdominal/pelvic MRI ( NOT just an ultrasound) and also a brain MRI for dear Alice to determine if there are any other mets in any other areas of her precious young body. In the meantime, please stay strong, let Hope lead you through each day, know that you are not alone on this difficult journey which we all share because those of us on this Board are here to provide shared information and strengthening support and encouragement. Please keep in touch as you are able and update the Board on the outcome of Wednesday's oncology appointment when your time and the situation allow. With special hugs for dear little Alice, you, and your family, caring thoughts, healing wishes, warm friendship, and continued Hope, Bonni Hess, mother of now 35 year old Brittany diagnosed at age 19 in July 2001

[stuartt]

Dear Bonni,

Thank you so much for your reply.

I have previously read your threads regarding Brittany before joining this forum - her amazing survival really gives us hope!

I will be sure to let you know how the meeting goes tomorrow.

Apparently we are also scheduled to see another oncologist whose specialism is radiotherapy, and also a Speech therapist (I guess to get some baseline tests for speech and swallowing ability).

I received the scan reporting via email this morning - it was slightly worse than the ENT surgeon had led us to believe, in that the primary tumour had grown marginally (still within the bounds RECIST stable disease) and while one of her lung mets had shrunk slightly, the others had grown slightly too and one apparently had new "ground glass changes" (not sure what that means) - again all within RECIST stable disease definitions, but given ASPS is slow growing I'm now wondering if the Sunitinib is doing anything for her.

I also got reporting on all previous scans, so I do now know that her primary tumour at baseline scan was 48mm x 36mm on the axiel dimension and 34mm on the cranialcaudal dimension. The original chest CT reported "at least 5 lesions visible" - it doesn't say how big they were.

Poor Alice had blood taken yesterday after school by the community nurse - she absolutely hates having this done. The nurse phoned later with the results - all was well, except for the platelet count which was high (640) . So now I'm worried about her bloods for the first time (always absolutely fine previously) and wondering what the raised platelet count could mean. I expect on a practical level it will mean blood test frequency increased from its current fortnightly schedule which Alice will feel very sad about

Thanks for your thoughts - we will keep you posted.

Warmest regards,
Stuart

[D.ap]

Hi Stuart
Alice has been on sutent for 2 months ?

Looks like cancer of the nasal/soft pallet area is very prevalent in China and there are studies of using adjunctive therapies along with targeted therapies .
One includes radiation along side targeted therapies .
It’s quite successful although nasopharyngeal carcinoma is radiosensitive as apposed to ASPS that is Radioresisant.


https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3565571/
I would imagine the doctors will want to give sutent a little longer of a chance to work and propose some type of radiation therapy in addition ?

The blood work was taken before Alice was to start on round 3 of sutent ? Or at the end of and or during her doseage ?

[Bonni Hess]

Hello again dear Stuart and thank you for your prompt response and thoughtful additional shared information. My heart breaks for the pain precious little Alice has to suffer from needle pokes for blood draws and future procedures. It is SO VERY unfair for anyone to have to suffer with this insidious disease, but especially someone so very young. However, in my experience and as per my 16 and a half years of observations, it seems that the younger the patient is when diagnosed with ASPS, the better the outcome in terms of metastasis and survival, which I am SO VERY Hopeful will be the case for precious little Alice. You are to be commended for your very proactive approach and for gaining so much knowledge and so many insights about ASPS so soon after beginning this difficult journey. Hopefully the Sutent is responsible for stabilizing the progression of dear Alice's disease, but as you insightfully observed, the marginal growth of the primary and a couple of the lung mets could be attributable to the indolent nature of ASPS instead of the effect of the Sutent. Unfortunately, it will just take time to determine if the Sutent is working, so I think it would make sense to continue the Sutent treatment for awhile longer as long as Alice is able to tolerate the side effects and there are no new mets or significant increase in the size of the primary and lung mets. In the meantime, as I mentioned in my previous post, it will be important for her to have a brain MRI and pelvic/abdominal MRI or CT (an MRI is preferable to prevent CT radiation exposure to her abdominal and pelvic organs) to ensure that there are no mets in those areas. My best wishes are with you for a very positive and productive outcome to your meeting with the oncologist tomorrow, with your questions answered and a viable treatment plan made. Take care dear Stuart, stay strong, hold tight to Hope, and keep in touch as you are able. With special caring thoughts, healing wishes, warm friendship, and continued Hope, Bonni

[D.ap]

Stuart
Word of caution with using sutent along with radiation

From the above article


“However, the high incidence of hemorrhage from the upper aerodigestive tract in NPC patients who received prior high-dose RT in the region is concerning. In general, antiangiogenic therapy should be avoided in patients with recurrent nasopharyngeal tumors located close to major vessels or within a previously irradiated field.”

[stuartt]

Hi,

We had our meetings up at the Royal Marsden yesterday.

Had a meeting first with a language and speech therapist who wanted to get a baseline for Alice’s speech and swallowing .

Then a discussion with members of the Oncology team, including their radiotherapy specialist.

Looked at the scans.

Actually the primary tumour had grown very marginally but still within their definition of “stable disease”
One of her lung metastasis had shrunk whilst the others had grown very marginally - again within their definition of “stable disease”

So it looks like the Sunitinib is working - but since Alice’s cancer is very slow growing, it will take them a while to be sure but since she’s tolerating it well it seems prudent to continue with it for the time being.

She’s started a new course this evening which will be cut short by a week in order for her body to cleanse before she has the debulking surgery on the 8th Jan.

I did ask why not wait for further shrinkage before surgery and it is something they’ve obviously thought long and hard about.

Their reasoning is since they aren’t 100% sure than the Sunitinib is working they don’t want to miss their chance of surgery in the event that it isn’t.
For instance if the disease suddenly progressed, the surgeons maybe unable / not prepared to operate.
A growth in the primary would also pose a risk to Alice’s airways of course.

So the plan is surgery followed by either radiotherapy or proton beam therapy to mop up what ever is left behind.

The radiologist pointed out that even in the event of a full resection of the primary tumour with margins, they would still be wanting to give Alice radio treatment, as the location of her tumour means that they would never be able to achieve large enough margins to feel confident that all the malignant cells were definitely gone - so the issue of debulking vs full resection isn’t something to get unduly hung up about.

The decision of radio therapy vs proton beam will go before a national board as Alice’s tumour, being so rare, is not on the list of those that automatically get Proton Beam, and the presence of metastasis would normally prohibit it, but of course Alice’s ASPS is very slow growing so they don’t think it would be an issue in this case.

They are recommending Proton and seem confident the board will agree - so we’ll see what happens there.

Either method is just as effective in destroying the tumour apparently, but they think the Proton might be more accurate in the head and neck area with potentially less collateral damage.

If we do have the Proton Beam therapy - that would be 9 weeks in Jacksonville Florida - we’d all relocate over there for the course of the treatment .

Alice had some genetic profiling done on her tumour and they have found that she has the indicator which would make her eligible for a PD-1 inhibitor trial (the drug is Pembrolizumab)

So that is lined up for the future, if/when the Sunitinib proves ineffective.

We asked about the plan for the lung mets.

They don’t seem particularly worried about these , either their presence, or the issue of getting rid of them - there are about 5 of them - largest is about 7mm - the rest about 1-2mm and systemic treatment / radio treatment / laser surgery or even regular surgery are all very possible.

So all in all a very good meeting and our positivity is restored!

[D.ap]

Hello Stuart

It sounds like all news was very good news,as
much as you could hope for pertaining to having of talked about ASPS.

Unfortunately , the doctors can only speculate about margins until the actual surgery but it sure sounds very hopeful of possible clear margins .

The news of Alice having PD1 positive tumor attributes is a very valuable piece of information . Was that test performed in England ?

Has her pathology report been reviewed with you all yet ?

Your team sure has rallied on Alice’s behalf and sure seems to have a good thorough plan for her care.

I would imagine that they don’t want to move Alice to the Keytruda prior to the surgery , as there is not a lot of information on doseage for kids available ? Side effects?

You all received LOTS of information yesterday ,huh ?
Thank you for sharing it with us as I’m sure it was an exhausting day for you all .

Love
Debbie
Ps. Found this link and read up a bit on the proton treatment.

https://www.floridaproton.org/what-is-p ... apy/faq#q6

Also the Pemb/axitinib clininal trial in Miami Florida

United States, Florida
University of Miami Recruiting
Miami, Florida, United States, 33136
Contact: Breelyn Wilky, MD 305-243-1287 b.wilky@med.miami.edu
Principal Investigator: Breelyn Wilky, MD
Sub-Investigator: Jonathan Trent, MD




Breelyn Wilky is a wonderful advocate for ASPS folks , young and older,as she is one of the head admin running the trial

http://www.cureasps.org/forum/viewtopic.php?f=84&t=1321

[arojussi]

Based on my limited understanding Proton beam treatment is indeed more save to surrounging healthy tissue than traditional radiation.