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1. Genetic profiling can be a lifesaver

Jeanne’s story

Jeanne and I were married for 17 years. It was her death from lung cancer in 1990 that motivated the many years of study and work that culminated in this website and book.

 She was young, just turned 37, when diagnosed with lung cancer; and was a never-smoker. She discovered a lump at the base of her neck, but the doctors then found the primary in her lung. So, the cancer was metastatic on diagnosis, an advanced lung cancer.

There were no genetics to work off at the time, it was way too early for that in 1989.  However, there may well have been an inherited risk in her genes[1]. Targeted therapy was not on the map yet, so her treatment was viewed through the eyes of conventional treatment.

The tumour was not operable, and the decision was to destroy the primary and any local invasion with radiation. Our GP explained to me that sometimes if the primary is treated with radiation, then any cancer that has spread simply disappears[2].

Anyway, to cut an unfortunately short story even shorter, Jeanne went into remission after an intensive couple of months of radiation; only for a recurrence to occur in her ovaries a few months later; followed by a hysterectomy and the introduction of chemotherapy (which did not last very long because she was too weak and ill to endure it); and she died 10 months after diagnosis at the end of June, 1990.

 

Janet's story

I now turn to a strikingly similar, but more recent and more heartening case, that of Janet. I first came across Janet's story through her Gray Connections blog[3], and an extract is included in the book as an illustration of the importance of watching for a "next new thing".

Diagnosed with lung cancer in March 2011, Janet was also relatively young (55), and also a never smoker. Her initial diagnosis was stage 3a (an advanced “Intermediate”), but inoperable.

As with Jeanne, the initial treatment was primarily radiation with good response; but then, after a few months in remission, it spread to her collarbone. She now had a metastatic, advanced cancer. Her treatment next focused on chemo and some further radiation, again with response, only to be followed yet again by recurrence, this time to her "good" lung. It was fast becoming clear that the ever-present “Damocles” of resistance to conventional treatment in advanced cancers was heading on the road to nowhere. Her doctors gave her 2 years to live.

But then came a "next new thing".

About 18 months into her journey she learnt, through an online forum, of a trial with a new targeted drug for lung cancer; targeting the so-called ROS1 mutation. Subsequent testing of her cancer found she indeed had the ROS1 mutation, and she was accepted onto the trial.

Taking 2 tablets a day to plug the mutation, she is still alive today, 11 years after her initial diagnosis. She is not fully cured, but her disease is chronically contained. She lives a very active[4] and relatively normal life (her disease, though, does have to be regularly monitored and she suffers some after effects, particularly from her early conventional treatments).

So, a really ‘good news” story. Congratulations Janet, you have fought a really good fight!

 

But hold on a minute …

Stepping back and looking at the bigger picture, what is going on here? Isn’t lung cancer a disease of older people; especially after a life of smoking? And is it just a coincidence that we have two such similar cases of younger people, never smokers with advanced lung cancers?

No, it is not.

I now need to present a bit of theory - not so much to inform your particular condition, but rather to illustrate what is possible if you take time to explore your particular cancer.

 

Time for a bit of theory

There is evidence of a cluster of traits which embrace lung cancers in never-smokers. This cluster has the following features (see, for example, Is Lung Cancer Genetic? Lynne Eldridge, MD):

 - genetic predisposition (inherited risk)

 - young

 - female

 - never-smokers

 

Another key characteristic of this cluster is that these cancers are likely to be targetable. In a 2017 review in the ASCO Post[5], Nasser Hanna MD makes the following points:

 - About 10% of lung cancer patients are lifelong never smokers

 - About 75% of the time, never smokers have a targetable mutation,

 - Never smokers are more likely to have a single oncogenic driver.             

 

The last two points are particularly important, so let us make sure we clearly understand them. So yes, most lung cancers in never-smokers are targetable. But they have an even more powerful property than this. A single oncogenic driver means that many of these cancers are dependent on (the term used here is ‘addicted to’)[6] a single mutation for their growth. They can therefore be controlled with a single targeted drug and are less likely to evolve significant resistance to treatment.

Hanna goes on to identify which targetable genes to look for in these cancers: “About half of never smokers will have a mutation in the epidermal growth factor receptor (EGFR) gene”. And then further “Never smokers are also much more likely to have an anaplastic lymphoma kinase (ALK) gene abnormality and also in ROS1 and MET. In addition, HER2 and RET abnormalities are much more prevalent in never smokers”.[7]

So, there is, indeed, a lot of precision that can be applied to the treatment of these cancers; and this gives us an explanation for Janet’s story: ROS1, targetable, low resistance, long term control.

 

Jeanne revisited

So, where does this leave us with regards to Jeanne’s cancer? There are, of course, no certainties, but there are some important pointers:

(i) If Jeanne were to be diagnosed today, genetic profiling would have been imperative!!

(ii) Indeed, her cancer may very well have been highly targetable with manageable resistance to treatment.

(iii) And, if so, her cancer could also well have been curable, or at minimum chronically containable for a number of years.

Unfortunately, Jeanne’s cancer came 20 years too soon.

 

But there are wider implications as well.

To those who are newly diagnosed:

(i) Don't just jump into conventional therapies without question: 

Conventional treatments are highly vulnerable to resistance and not often curative, especially for advanced cancers. Note how neither Jeanne's nor Janet's cancers showed any sign of overcoming treatment resistance while they were being treated conventionally; this is not unusual in advanced cancers.

 

(ii) Take heart, some cancers which were incurable a couple of decades ago are now being cured:

Significant progress has been made in the treatment of cancer over the past twenty to thirty years. We have seen this here with targeted therapy for Janet’s cancer; but there is also the exciting and fast-developing field of immunotherapy, as will be seen in a forthcoming blog.

 

 (iii) Always keep an active watch for a “next new thing” for your cancer:

Janet’s treatment was not going anywhere until she found the ROS1 trial opportunity. This was not an isolated occurrence. Trial opportunities are presenting on an on-going basis for most cancers. Stay alert.

 

(iv) And, as we have learnt from Janet’s story … make sure you have your cancer genetically profiled, it may just save your life.




[1] Some years after her passing, I stumbled upon Weinberg’s great textbook on the biology of cancer. After an initial reading, I e-mailed Dr Weinberg about Jeanne’s case and he most obligingly replied: “Death from lung cancer at that age, even among smokers, is so rare that I suspect that she had an inborn susceptibility for the disease”.

[2] I have since learnt that this is due to the immune system which is primed by the debris from the cancer cells after radiation, called the “abscopal effect”. It is a rare, but known occurrence, which is currently being researched as part of the new wave of immunotherapy combination treatments which we will visit soon.

[3] Gray Connections: Perspectives on Lung Cancer, Research Advocacy, and Other Stuff; see especially her blog posting A Lung Cancer ePatient Story

[4] Indeed, she is very actively involved as a lung cancer research advocate as well as a writer and speaker on lung cancer.

[5] Lung Cancer in Never Smokers: A Complex Clinical Phenomenon. A Conversation with Nasser Hanna, MD, ASCO POST, Dec 2017

[6] We will look at ‘addiction’ in more depth in a later blog. For those that have read the book, this concept means that, while an advanced cancer is usually “smart”, it is not always. It is, therefore, always worthwhile to explore your genetic profiling; you may just stumble over a really important key driver gene.

[7] Do not be put off about the specific names of the genes mentioned here. These are part of a language one learns when one is diagnosed with a particular cancer. As can be seen in our book, being diagnosed with cancer means going into a new land, Cancerland, which includes learning a new “language” - much of which will be unique to your own particular cancer type