Cancer treatment is highly specialised and many drug treatments are now given based on pathology results that show the drug is likely to be effective. However, this type of testing is limited to specific genes or panels of genes and is ordered when doctors already know some information about the cancer, specifically where in the body it is.

Determining the type or origin of cancer may seem obvious; if cancer is found in the liver, it’s liver cancer right? Unfortunately, that is not always true.

If a person has cancer that spreads to another area of the body (metastasises), the secondary tumour usually has similarities to the original tumour. These similarities in the cells can be seen by a pathologist examining tissue from the tumour under a microscope.

So, when a cancerous tumour is found that does not have characteristics common to cancers from that part of the body, it is usually thought to be a metastasis – cancer that has spread from another cancer elsewhere in the body. When the original site of cancer cannot be identified this is called Cancer of the Unknown Primary (CUP).

Professor Sean Grimmond is Director of the University of Melbourne Centre for Cancer Research at the Victorian Comprehensive Cancer Centre and his research is focused on cancers of unmet need; these are cancers where the survival rate is poor or treatment options are limited. Cancer of the unknown primary falls in this group.

According to Cancer Council Australia, CUP is the fifth most common cause of cancer death in men, and fourth in women.

This means CUP causes more deaths than melanoma or leukaemia.

One reason CUP has a high mortality rate is that it is so difficult to target treatment.

Prof Grimmond says, “In these cases, choosing a drug just based on the tissue of origin can be like guesswork.”

Fortunately, advances in genomic sequencing and scientists’ understanding of cancer DNA are helping to shape new methods for testing and treatment of CUP.

At the VCCC researchers are using genomic sequencing techniques to help patients with difficult to treat cancers.

Prof Grimmond explains: “We want to move from using the microscope for this type of diagnostic to using DNA, because the pattern you see in the DNA can be used to infer the organ of origin.

Also the damage to the DNA in the tumour reflects what type of event triggered the mutation in the DNA that led to cancer developing; whether it’s UV light or smoking or old age. So if you’re looking at a patient that has a cancer of the unknown primary in their pancreas, but you can see a pattern that reflects UV damage, you would start to think that skin could be the origin.”

This research could lead to the development of new specialised pathology tests for CUP patients to help quickly determine the original cause of their cancers, enabling targeted treatment faster.

“This could improve the time to treatment drastically and offer hope for patients where current treatment options are very limited,” says Prof Grimmond.

The post Origin unknown – how pathology is helping to fight mysterious cancers first appeared on Know Pathology Know Healthcare.

Pathology tests showed protein in her urine, prompting doctors to urgently perform a kidney biopsy. A kidney biopsy involves taking one or more samples of kidney which are sent to a pathology lab to be analysed under special microscopes. Renal diseases can affect various components of the kidney and therefore samples need to be stained with multiple stains to assess various components of kidney tissue. Kidney biopsies are highly technical and very labour intensive, requiring a high level of expertise to obtain a rare diagnosis.

The anatomical pathologist diagnosed Linda with a rare form of nephrotic syndrome. She was told her options were transplant, dialysis or death.

“When doctors told me the news, it was a very hard pill to swallow but I knew I had to accept it. My inner-strength helped me to keep going”, said the mother of two.

Nephrotic Syndrome (NS) is a collection of symptoms that indicate kidney damage. It is characterised by excess proteins in the urine, exceptionally low levels of albumin in the blood and swelling caused by fluid trapped in the body’s tissues.

Despite the doctor’s prognosis, Linda managed to continue living normally for seven years. During that period, her kidney function decreased steadily until eventually doctors needed to intervene – it was time to begin the search for an organ donor.

Little did Linda know but her mother was preparing herself to become an organ donor.  At 62, Sylvana Crkovski knew she would need to be in good health for the operation so she revamped her diet and fitness regime and succeeded in losing 10kg. Linda’s nephrologist noticed the change and agreed to test if she was a match.

Compatibility testing for organ donors begins with a blood test to examine their blood type and determine if it will match the recipient’s blood. If their blood type is compatible with the recipient, they’ll receive further blood tests such as tissue typing and cross-matching to see if the recipient will react to their kidney. If there is no reaction, the transplant surgery can take place.

Sylvana underwent six months of health assessments, involving DNA and blood tests. Finally, pathology results gave Linda’s family the news they were hoping for: Sylvana was a perfect match.

On the day of their surgery at Royal Melbourne Hospital, Linda and her mother held each other’s hands as they were wheeled into the operating theatre. Linda will never forget the words her mother said to the surgeon just before the operation: “If the first kidney doesn’t work, take the other kidney”. Sylvana was willing to sacrifice both kidneys and endure dialysis if it meant saving her daughter’s life. The procedures went well and mother and daughter were released after five days.

Linda will need to take medication and undergo regular testing for the rest of her life but since the operation, she has vowed to live life to the fullest.

This July Linda competed in the Transplant World Games in Spain, where she won a gold medal in paddle tennis. When she’s not smashing it on the tennis court, Linda’s busy volunteering as a Fit for Life ambassador which sees her visiting patients in dialysis wards.

With the arrival of  Donate Life Week on the 31^st July, Linda wants to encourage more people to donate their organs. “I urge every Australian to make their donation decision count by heading to donatelife.gov.au and registering their donation decision.”

The post Mother’s kidney is the winning match for tennis champion, Linda first appeared on Know Pathology Know Healthcare.

The organization was founded in 2009 to support mito patients and their families via community activities, advocacy and education, whilst supporting research into diagnosis and treatment in the hope that this will translate into preventions and cures.

So what is mitochondrial disease?

Mitochondria are bean-shaped organelles that float freely inside almost every cell in our body. They have a double membrane – the site of various biochemical reactions, including cellular respiration – the process of converting carbohydrates, fats, and proteins into fuel for cells.

They may be small but each mitochondria requires more than 1400 genes to create it.  Mitochondrial disease (‘mito disease’ for short) is due to a fault in one or more of these genes. Since high energy organs require so many mitochondria within their cells, they are usually the first to be affected in mitochondrial disease. These include the brain, nerves, muscles, eyes, ears, heart, bowels, liver, kidney and pancreas.

Symptoms range from fatigue and weakness to developmental delays, dementia, seizures, movement disorders, blindness and gastrointestinal conditions such as indigestion.

According to recent Australian studies about 1 in 200 people will carry a mitochondrial genetic defect – nearly 120,000 Australians. Not all of these people will develop the illness but the risk of developing serious illness is about 1 in 5,000.

Given the range of organs and functions potentially affected, mitochondrial diseases are difficult to diagnose but they can be made through a combination of clinical observations, diagnostic imaging, and pathology tests including blood tests and muscle biopsies.

There is currently no cure for mito disease but there are treatments and therapies that can alleviate symptoms and slow the progression of the disease, so an accurate diagnosis is important.

The research carried out with the support of AMDF will hopefully make diagnosis easier for future patients. This month, for example, AMDF teamed up with the Australian Genomics Health Alliance to conduct genetic screening on people with suspected mito disease.

The partnership will ensure that all those with suspected mito will have access to genetic testing via a blood test and a conclusive diagnosis – without which fifty per cent of people would have been subject to inconclusive and invasive tests and potentially still no diagnosis.

To find out more about mito disease and the Foundation’s important work in helping patients, you can check out their website here.

The post A genetic defect carried by 1 in 200 people – mitochondrial disease first appeared on Know Pathology Know Healthcare.

Ros began her healthcare career as a nurse, training at the Royal Melbourne Hospital 50 years ago and spent the last few years of her career working as a pathology collector before retiring at Christmas last year.

Ros was first diagnosed with breast cancer in 2011. She was called back for further examination after an abnormal breast screen and then underwent a fine needle aspiration biopsy and a lumpectomy. This confirmed she had breast cancer that was spreading to her lymph nodes.

Doctors treated Ros using chemotherapy and radiation therapy during which pathology was vital to guide treatment.

Blood tests every three weeks tracked her health during chemotherapy as drug doses must be carefully monitored for side effects.

“Pathology was fantastic” said Ros. “Without it, the doctors would be pouring quite toxic drugs into me without knowing what was going on!”

Although now in remission for her breast cancer, she was diagnosed with Chronic Lymphocytic Leukaemia (CLL) about a year ago.

A blood test showed abnormal red and white blood cell counts. Further blood tests and a bone marrow biopsy confirmed that Ros had CLL. Luckily the disease was caught in its infancy. She has no symptoms and at the moment she does not require treatment.

Doctors use the results of frequent blood tests and annual bone marrow biopsies to monitor her and assess disease progression.

“Throughout the last five years pathology has been a big part of my life, with regular blood tests as well as the bone marrow biopsy and lymph node biopsy I’ve been no stranger to the pathology team!”

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In Australia, 30% of adults have non-alcoholic fatty liver disease and it is set to become one of our most prevalent chronic diseases.

The Enhanced Liver Fibrosis test (ELF) measures chemicals in the bloodstream that indicate the degree of fibrosis (scar tissue) caused by chronic liver disease. Significant fibrosis suggests progression towards cirrhosis, where scarring is so severe the liver can fail. This can lead to liver cancer or transplant. 264 Australians received a liver transplant in 2015.

Chronic liver diseases that can cause fibrosis include viral hepatitis and alcohol induced damage. However, the prevalence of non-alcoholic fatty liver disease is predicted to sky-rocket as obesity increases.

Brisbane Hepatologist {liver specialist} Professor Elizabeth Powell says:

“Non-alcoholic fatty liver disease will soon surpass viral hepatitis as the leading cause of liver transplant in Australia. Detecting liver damage is important to allow monitoring for complications such as liver cancer.”

The test’s co-creator, London based Professor William Rosenberg says,

“This test potentially has great benefits to patients and the safety, speed and simplicity of a blood test means people can be easily monitored over time.”

Liver biopsies analysed in pathology laboratories are currently used to assess fibrosis. However, this invasive procedure may be painful and carries a risk of internal bleeding. They therefore cannot be used repeatedly to monitor response to treatment.

Professor Powell adds,

“A lot of resources are going into developing drug treatments for non-alcoholic fatty liver disease. When those come to fruition, this test may play a huge role in identifying and monitoring patient response to these therapies.”

A/Professor Graham Jones is a Sydney-based Pathologist. He says,

“Australians have access to some of the world’s highest quality pathology services. Moving towards minimally invasive tests is a great example of innovation that could help reduce patient anxiety, discomfort and health risks.”

Whilst the test is available in Australia, patients must currently pay for it. Australian medical experts are still understanding how the test fits in with existing Australian treatment guidelines for liver disease.

The post New test could offer easier monitoring for millions with emerging chronic liver disease first appeared on Know Pathology Know Healthcare.