Formed in 2010, Snowdome seeks to improve outcomes for Australians with blood cancers (myeloma, lymphoma, leukaemia). The charity’s aim is to ‘unlock new treatments’ by channelling government and philanthropic investment into early phase human clinical trials of next-generation drugs and therapies.

So how is pathology involved?

Molecular pathology techniques are used to diagnose all blood cancers including myeloma, leukaemia and lymphoma.

Pathology testing also shows how a person is responding to a novel treatment during clinical trials, and for patients who may have exhausted other options, access to these treatments can be lifesaving.

Snowdome funds projects based at several different institutions including the Peter MacCallum Cancer Centre and Epworth HealthCare.

Nicole Brooks, Research Program Manager, Molecular Oncology and Cancer Immunology Department (MOCI) Epworth HealthCare said;

“As researchers, we want to ask more questions and as a result of the efforts of the Snowdome Foundation, Epworth Medical Foundation and other philanthropic organisations we are in a fortunate position to continue our research efforts.

“Our research is not just tinkering in the lab in the way many people might think. Rather, a group effort to provide desperate patients an alternative option and when we can prove that something is actually working, we can then make a case to get access to new drugs for more patients.”

As cancer therapy is increasingly delivered as precision treatment, this requires precision diagnostics.

Dr Piers Blombery is a Consultant Haematologist and medical lead of Peter Mac’s Molecular Haematology Laboratory. This lab runs an Australia-wide genomic testing service which from a blood sample can identify genes or genetic irregularities known to drive cancer.

“For the patient it’s no more difficult than a standard blood test, and the information we get is very powerful in guiding and personalising their treatment,” says Dr Blombery.

“It often means we can rule out approaches that won’t work, or will have a very poor response, and instead go down treatment pathways that should get the best results.”

For example, every year about 1000 Australians are diagnosed with chronic lymphocytic leukaemia (CLL). Genomic testing can reveal whether these patients have either an IGHV or TP53 gene irregularity.

Both are clinically important. CLL patients with an IGHV irregularity respond well to standard chemo-immunotherapy, and this treatment can give them long-term remissions.

“Alternatively, we also know CLL patients with a TP53 irregularity will likely have a very poor response to standard chemo-immunotherapy,” Dr Blombery says.

“These patients do better on novel agents such as BTK inhibitors or BH3-mimetic agents which are currently accessible through clinical trials or compassionate access programs.”

“It is genomic testing that allows us to find these irregularities and ensure patients get the treatments most likely to work for them.”

Dr Blombery also said when performing genomic testing, new clinically important gene irregularities can be discovered. These are passed to researchers who are looking to better understand the fundamental drivers of cancer.

“The more of these gene irregularities we know of, the more we can develop potential new anti-cancer drugs and also personalise treatments so patients have better outcomes.”

Miriam Dexter, CEO of Snowdome Foundation, said;

“Based on international evidence, we know that patients have better outcomes on clinical trials, but many people will be unaware that due to our small population, Australian patients are rarely included in blood cancer trials”.

“That is the mission of Snowdome, to ensure more early phase clinical trials are initiated here in Australia.”

The type of research we fund is not confined to the laboratory, but relies on pathology testing to monitor success and manage patient welfare, as well as the development of companion diagnostic tests that are the gateway to novel therapies.”

To learn more about Snowdome Foundation visit snowdome.org.au

IMAGE: Supplied by Snowdome Foundation, taken at Cartherics Lab (MHTP).

The post How Snowdome Foundation is making hope real in the blood cancer battle first appeared on Know Pathology Know Healthcare.

‘Blood cancer is the third biggest cause of cancer death across Australia, claiming more lives each year than breast cancer or skin cancer,’ says Geoff Magrin, who has worked in haematology for four decades.

‘The five main categories are leukemia, lymphoma, myelodysplastic syndromes (MDS), myeloproliferative disorder (MPD), and multiple myeloma.’

Blood tests

There are several blood tests that contribute to diagnosing blood cancer and rule out other conditions.

A Full Blood Examination (FBE) is a common lab test that measures the number of red cells, which contain haemoglobin to carry oxygen, white blood cells that fight infection, and platelets that protect from bleeding.

‘The results of a full blood count are compared to charts that list the normal range of numbers and ratios for each type of blood cell,’ explains Mr Magrin.

A result above or below the normal range may indicate an abnormality.

In addition, a “blood smear” (a thin blood film) is stained and examined under a microscope to highlight the appearance of the cells in order to classify them as normal or abnormal in amount and development.

Blood cancers are distinguished by the lack of normal cells, an excess of normal cells and /or the presence of cells with abnormal features, such as lymphoma cells or blasts in leukemia.

‘A chemistry panel is important to assess kidney and liver function, calcium levels, markers of cellular burden, and assess for the absence of normal protein or excess of abnormal proteins (such as abnormal antibodies) in the blood,’ Mr Magrin said. 

Bone marrow aspiration & trephine biopsy

Blood cancers commonly commence in or spread to the bone marrow. ‘A bone marrow biopsy is used to diagnose some blood cancer, and to work out the extent of other cancers,’ said Mr Magrin.

A fluid sample and a solid tissue piece (core) are taken in this procedure. These procedures and examination of the samples is undertaken by haematologists.

Lymph Node Biopsy

Lymphomas are often diagnosed after growth of tissue in lymph node sites: groin, neck, underarms, abdomen. Removal of a sample with a fine needle, a larger core biopsy, or by complete removal of a node can assist in determining the type and treatment of the disease. These samples are examined by Anatomical Pathologists.

Flow cytometry

Flow cytometry is a test that uses lasers and pattern analysis to identify cells based on their size, complexity and the presence or absence of molecules tagged on the surface or within the cell.

Genetic testing

Cytogenetic testing, also called karyotyping, determines any potential chromosomal abnormalities or mutations in blood cancer.

‘Two additional types of genetic tests are polymerase chain reaction (PCR) and fluorescent in situ hybridization (FISH).

‘Both PCR and FISH do not look at overall chromosomal changes but can be helpful in detecting specific, known genetic mutations,’ said Mr Magrin.

Pathology in Australia has the highest standards in the world and is a vital piece of the nation’s health infrastructure, helping not only diagnose cancers and informing the treatment.

The post How are blood cancers diagnosed? first appeared on Know Pathology Know Healthcare.

Ken and David now lead two cancer support groups in Ballina and Byron Bay. David explains;

“Cancer has a major impact on a person’s life. It can affect everything from sleep and appetite to relationships with your family. While many support groups focus on medical issues, we wanted to create a community where people feel comfortable discussing the emotional effects of cancer without judgment.”

Along the way, both Ken and David have discovered the importance of health literacy, to which pathology is integral.

David was diagnosed with Waldenström’s Macroglobulinaemia (WM), a rare, slow growing form of non-Hodgkin lymphoma, a blood cancer affecting the immune system. There is currently no cure.

“After being diagnosed with cancer, my haematologist recommended a watch and wait approach. A combination of blood tests and bone marrow biopsies enabled him to monitor my blood over time and choose a milder form of chemotherapy tailored to my needs. Learning to understand my test results has helped me to keep an eye on my progress ever since.”

David is now participating in an international trial, comparing a new experimental drug, BGB-3111 against Ibrutinib, a drug already used to treat forms of lymphoma including WM, to see if it could be a more effective therapy.

From David’s point of view, education is a crucial tool for battling cancer. “It is critical that patients learn about their illness and treatment options, whether that’s through health care organisations or at their local clinic. Education is so important and those who remain uninformed are missing out on opportunities to improve their health.”

Ken is also a passionate advocate for patient education. Being diagnosed with prostate cancer has motivated him to embrace a holistic approach to health. “The cancer diagnosis was a wake-up call to change my lifestyle. With the help of my doctor, I’ve learnt to harness the benefits of exercise, sleep and nutrition to achieve the healthiest body possible.”

Although Ken has made a full recovery, he still relies on pathology tests to monitor his health. “While pathology tests were instrumental in my diagnosis, they’ve also played an important role in maintaining my health. I still have regular PSA tests as a preventative measure. I’m very fortunate to have been given a second chance and I’m healthier now than ever before.”

Improving your own health literacy

The internet has led to an abundance of easily accessible health information. And whilst this can be great if you’re looking for extra support, it is increasingly difficult to know which sources to trust. A couple of questions you should ask yourself are:

1. What is the source? Government-funded websites, industry bodies and peak national healthcare charities are good places to start. Always read the ‘About Us’ page and be aware of potential biases. Are they a private company pushing a product, for example?
2. Is the information up to date and backed up with scientific evidence? The best websites will reference reputable sources such as scientific journals.

When it comes to pathology, Lab Tests Online (www.labtestsonline.org.au) is one platform where patients can learn more about their illness and the relevant diagnostic tests. Lab Tests Online is run by the Australian Association of Clinical Biochemists, is government funded and provides reliable, accurate information, free from commercial bias. All of the information is written by practising pathologists and scientists and goes through a strict editorial board before being published.

Crucially the information is also Australia focused. When searching the internet it’s easy to end up down a rabbit hole only to discover that the information is not relevant in your location. Best practice guidelines, available tests and treatments can vary between countries, but at labtestsonline.org.au you’ll find information relevant to Australia.

And if you’re ever unsure about where to find the best information or you need additional support, remember your health professionals are there for you. Both Ken and David credit their doctors with supporting them to understand their own health. General Practitioners, nurses, specialists and pharmacists would much rather you asked them than rely on Doctor Google!

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Olwyn is a Melbourne-based grandmother who likes to be in the thick of things. From her home in Melbourne’s inner north, she’s busy entertaining at home, visiting art galleries and meeting friends out for dinner.

So when she was diagnosed with Lymphoma in 2012, it was a huge shock to her.

“The diagnosis came completely out of the blue. I’d been feeling a little under the weather and saw my doctor. I thought it would just be a persistant cold or something.”

The months that followed her diagnosis were tough, and Olwyn lost all her hair in the course of her treatment.

“I’m a very social creature, and the cancer and treatment limited how much I could meet up with friends and they were an important part of getting well.”

“Another important part of getting well was getting the right treatment – and that’s where pathology comes in. I had all sorts of tests, both at diagnosis and throughout treatment, to make sure I was progressing. My doctor would tweak my therapy depending on what the results showed. I know how reliant he was on those results.”

“In the end all I can say is here I am. I’ve been cancer-free for two years and my hair has grown back really soft and amazingly – curly! I wouldn’t be here without getting the best treatment, fast. So it follows that I wouldn’t be without pathology.”

The post Guiding cancer therapy first appeared on Know Pathology Know Healthcare.

The ABMDR helps people who need bone marrow and stem cell transplants because of blood cancers, genetic disorders and immune conditions.

Pathology plays a vital role in bone marrow donation. Becoming a registered donor involves giving a blood sample at an Australian Red Cross Blood Service centre. Pathology teams test donors’ blood to find out their human leukocyte antigen (HLA) tissue type and this information is stored by the ABMDR.

HLA are proteins that your immune system uses to recognise which cells belong in the body and which do not, so a donor must be carefully selected to minimise risk to the patient. HLA typing is more complex than blood typing, making matching donors to patients more difficult.

Only around 30% of patients will match with a family member and as 34 people a day are diagnosed with a blood cancer, the ABMDR needs as many donors as possible.

Unfortunately finding a match can also be affected by ethnicity – a person is more likely to find a match with someone who shares their ethnic background. As 80% of people registered as donors are of ‘Northern Caucasian’ backgrounds, people of other ethnicities may be left with little hope of finding a lifesaving match.

Ur the Cure is an organisation set up to promote the ABMDR and particularly to raise awareness of the need for donors from a range of ethnic backgrounds, to help people like Melissa Baker who has Italian heritage.

Melissa is a Victoria-based Forensic Pathologist who understands the value of pathology for both professional and personal reasons – she has a stubborn form of Hodgkin’s Lymphoma.

In June 2013, Melissa noticed some small lumps in her neck. With her medical background she suspected lymphoma, which was verified by pathology tests. According to Lymphoma Australia, Melissa is one of the 5,000 cases of lymphoma that are diagnosed in Australia each year.

“Believe it or not, I’ve been told that I’m ‘lucky’ because Hodgkin’s Lymphoma is a ‘good’ cancer to get as there is a high chance of remission and cure. That’s not helpful, especially in light of the fact that I underwent 15 gruelling months of chemotherapy including an autologous stem cell transplant, which is a transplant using my own stem cells, but my cancer did not respond as hoped. I then tried a new drug which unfortunately wasn’t subsidised by the government’s Pharmaceutical Benefits Scheme.”

The new drug cost Melissa, a single mum of two young children, $10,600 per treatment. With the support of her family, friends and Lymphoma Australia, Melissa raised money to help her, and hopefully others in a similar position, pay for the expensive treatments.

“After an initial good response, unfortunately my lymphoma began to progress again after nine treatments.  I am now waiting for a clinical trial to open so I can access a new type of drug that will use my own immune system to fight the cancer.  The hope is that I will have a good response and consolidate that with another stem cell transplant, this time using donor stem cells. My last hope for a cure is finding a compatible donor, but so far a world-wide search for a donor has not been successful. It is easy to join the bone marrow and stem cell registry – you can be added when you donate blood with the Australian Red Cross Blood Service. I plead with anyone donating blood to join the registry to help me and others like me.”

Despite the difficulties Melissa has faced, she is adamant about the value of pathology in getting her this far and has hope for the future with the drug and donor stem cell transplant.

“The diagnosis via biopsy gave my doctors and I the information we needed to plan my treatments. Throughout it all, I have had regular pathology tests to monitor my ongoing health.”

The Ur the Cure campaign is using social media to spread the word and get more potential donors, you can like and share the Facebook page to help get the message out.

Founder of Ur the Cure, Pamela Bou Sejean is keen to dispel common misconceptions about donating stem cells; “Donating stem cells is easier these days, it’s much like a blood donation where your stem cells can be taken straight from the bloodstream. The non-surgical procedure can take about 4 hours and you can watch TV or read a book during it and return to normal activities afterwards. Pretty simple considering you could save a life!”

Pamela points out that only 1 in 1500 Australians in any given year is a match and will be asked to donate stem cells.

To learn more about becoming a bone marrow donor, visit http://www.abmdr.org.au/

To join the ABMDR call the Red Cross Blood Service on 13 14 95 and book an appointment – you will need to specifically mention the ABMDR.

To support Melissa through her fundraising with Lymphoma Australia, visit http://www.everydayhero.com.au/event/igotthegoodcancer

The post Get on this list to be a lifesaver first appeared on Know Pathology Know Healthcare.