Stage IV but unclear diagnosis

I was holding off posting here for a while despite knowing I was stage IV for nearly a month or so now, while my doctors did all the tests to finalise the diagnosis. But when a biopsy came back inconclusive yesterday I lost it and would love to turn to this forum for help.

Basically my story is: Stage II IDC ER+ and PR+ last year, no node involvement and no LVI. May this year I had a chest CT for an unrelated issue and it picked up a small nodule (I posted on the 'Worried!' forum then). My doctor was absolute insistent that it was nothing, that the radiologist looked and said it was a non-suspicious intrapulmonary node, but if I really wanted we could rescan in 6 months for reassurance. I said yes please. Six months comes around and they scan me and tell me: the nodule has grown, there is now another one, plus a cluster of enlarged lymph nodes. So yes, we do think you have recurrent breast cancer.

Queue panic on my part and the inevitable PET scan (everything 'markedly avid' with huge max SUV like 17) but luckily seemingly no other spread. My oncologist says that because it's in my lung and nowhere else, they do need to biopsy to check the (unlikely) possibility that it is a primary lung cancer. But she thinks most likely recurrent breast and starts to line up treatment to put me on abemaciclib and fulvestrant (on the basis that I relapsed while on letrozole).

The final part is the EBUS TBNA biopsy of the enlarged mediastinal nodes, to check that it is breast cancer and also the receptors. that was super unpleasant but I thought at least when it was done we would have confirmation and could start treatment. In fact I was booked in to have my first fulvestrant shots and get my abemaciclib tablets next Tuesday so we start before Christmas.

Yesterday my oncologist calls. the EBUS results have come back inconclusive. The can't say if it is breast of lung or colon or what - in fact it doesn't test positive for any specific cancer but it *is* cancer. WTF. The official wording I believe was 'Nonspecific tumour of unknown primary' on the pathology report. It did say that the cells were ER-, and it also tested negative for certain definitive markers of lung cancer.

So now we need to do another biopsy, likely of the tumour in my lung. But it's 6 days before Christmas in the middle of a pandemic so good luck. My oncologist says it will be discussed at the MDT on Wednesday and that behind the scenes she's trying to find other pathologists who she thinks have a better background in breast specific to look at it.

I hate being in limbo. We know I have cancer aggressively growing in my chest. I'm angry their stupid EBUS interpreters cannot work it out. From my, admittedly non-medical, perspective, the obvious suggestion is that my strongly ER cancer has lost its receptors (hence progressing on letrozole) and become TNBC, or at best Her2+ (though I was Her2- before). I don't understand why that does not seem to be being tested for and I also why my oncologist is not suggesting that as the most likely possibility. If I have mutated to TNBC, I am anxious to start aggressive treatment asap.

Not sure if I'm asking any questions, just looking to see if anyone has had a similar experience or has thoughts on what I could be facing

love to all

Phet, I wish I knew something to say or had advice to give. I’m not that experienced, but I wanted to tell you I am thinking of you.

Accidentally deleted a post trying to edit...could you get a second opinion?

Hi phet! Just want to offer support like the others! I too hope you can undergo that biopsy very soon in hopes that will help you and your docs know what you're dealing with. The unknowns just add to anxiety and frustration as you conveyed... I'm glad you finally posted! A month is a long time to hold onto this kind of information. I hope you have family and good friend support too. That in conjunction with this site would be ideal! Please keep us updated, ok?

Phet, since things have gotten complicated, I think it would be a good idea to get a second opinion on the pathology (and hopefully the biopsy) from the best cancer center you can access. You need a place with really expert and experienced pathologists and interventional radiologists. Are you in the U.S. and what state? PM if you would rather, and I will point you in the direction of some good options. If not in the U.S. maybe another member can give you a lead.

Thank you everyone for your supportive messages, they really mean a lot to me. I agree I need to be more assertive with my team about getting this sorted for me ASAP. Unfortunately (perhaps) I’m in the UK - the NHS is a slow machine at the best of times let alone in the midst of COVID. I’m actually from Australia, and one of the ways I push my oncologist is to repeatedly tell her ‘this wouldn’t be happening back home!’ And try to shame her into speeding things up for me. Not sure if that’s the most effective way 😬 Regardless, I’m going to email her and tell her I need her to get second opinions on the pathology samples (which she did already suggest) and also push the lung MDT to get me in for a biopsy before the new year. Looking at the calendar, I want to be in treatment by the first week in January at the latest (even that feels unbearably slow since we first learned of the new tumours).

One fortunate thing is that my oncologist had already sent my blood off for a Foundation One liquid biopsy. Because I was node negative and no LVI my oncologist already thought we needed to get a better genetic picture of what was going on. The results of that are due back this week so ironically we’ll have them before we officially know what cancer I have. Perhaps they will shed more light (not sure if a Foundation One can actually diagnose what type of cancer though).

In terms of second opinion - yes I’m absolutely planning to do that though it’s a bit complicated in the NHS system. My plan was, once I knew what type of MBC I had, to identify the top researcher on that who is also in practice and book a second opinion with them, to advise on the best treatment and possible trials. I’m currently at the Churchill Hospital in Oxford and can easily get to London for appointments or trials so I am assuming that’s where I’ll go. But this whole uncertainty is slowing everything down - not sure how one transfers diagnostics from one hospital to another within the NHS.

I’m strengthened by all your support and encouragement to be more assertive. I’m going to email my oncologist with my request for pathology second opinions, an ultimatum re timing of the biopsy, and insist on some treatment by first week in Jan. And hope Foundation One saves the day

hey there berries - mine grew from 0.9cm to 2.8cm a new one (1cm) emerged and my mediastinal nodes enlarged. The Pet scan SUV was crazy, like 18! So mine are growing rapidly. Hence why I’m so anxious to get a plan

Hi all - an update from me. The Lung MDT met and decided no use biopsying again despite this one being inconclusive as it was able to prove it's not lung cancer and thus must be breast metastatic. I mean, I guess so...Breast MDT decided that again, even though the mediastinal node biopsy was inconclusive, the finding that it was ER- and PR- was correct, so they are now testing Her2. But we expect that to come back negative as it was before. Everything points to it being TNBC. So 18 months ago I was treated for early stage ER+ (8/8) PR+ (8/8) breast cancer with no nodes and no LVI. And here I am with TNBC mets rapidly growing in my chest. I just don't understand to be honest.

I'm glad I had already thought of this possibility and started looking into clinical trials. I've asked to be referred to the clinical trials team at St. Bartholemew's hospital in London, which runs a lot of TNBC trials. There I assume they will also test my PDL-1 and AR receptors (so another biopsy...) I still have a Foundation 1 liquid biopsy report coming in and am praying that gives us something actionable. Trying to get my head around everything.

If anyone has any tips for TNBC trials (in general - they don't need to be in the UK, I'm keen to know what's out there) or is on one let me know. I read somewhere that cancer that switches from ER+ to ER- often responds to immunotherapy? Here Trodelvy isn't approved yet but I'm still counting it on a possible list of treatments as I'd be hoping compassionate use would be an option if it came to that. I guess there are a lot of trials/chemos to try before then. Oooof.

Thanks everyone for your thoughts

Thank you moth! This is very helpful. Have you had luck with immunotherapy?

I looked at your list, moth. Very concise and useful. If you want to cross check, remember Bestbird's guide to mbc. Posted by Bestbird:

“If you want to learn about approved therapies, helpful hints, cutting edge research and more, you are welcome to read my book, "The Insider's Guide to Metastatic Breast Cancer" which is also available as a complimentary .pdf. For information, please visit https;//www.insidersguidembc.com/about“

Hi Phet, I hope the results of the Foundation One test prove useful. I'm not as familiar with their testing protocol as I am with Caris Life Science (a different company that provides Tumor Profiling). They have recently added a panel that compares the pathology of your tumor to 20 distinct tumor types in their data base and can predict what the primary is, as well as list your tumor's specific mutations and therapies that are likely to work. I don't know if that would prove useful, but perhaps it is something you can ask your oncology team about. I hope you get some answers soon and are able to find a successful treatment plant.