Hereditary papillary renal cell carcinomaA cancer that begins in the skin or in tissue that covers our inside body organs. (HPRCC) is a rare genetic condition that increases the risk of developing a specific type of kidneyBody organ or part that filters blood and gets rid of waste products making them into urine (wee). cancerA disease where abnormal cells split without control and spread to other nearby body tissue and/or organs. Cancer cells can also spread to other parts of the body through the bloodstream and lymph systems. known as papillary renal cell carcinoma. It is caused by a mutation of the mesenchymal-epithelial transition factor (MET) gene, which is a tumour suppressor gene found on chromosome seven.
Familial cancer syndromes, also known as hereditary cancer syndromes, are rare conditions that cause an increased risk of cancer as the result of inherited genetic mutations in certain cancer-related genes. They can affect both adults and children, however they generally develop in people at a younger age than normal. While familial cancer syndromes are not classified as cancer, they are equally as severe and can be life-threatening as they are associated with the development of various tumours throughout the body. Having a familial cancer syndrome does not guarantee the development of cancer, however the risk of developing cancer is higher than those who do not have a familial cancer syndrome.
HPRCC syndrome tends to affect the sexes equally, and is generally diagnosed around the age of 40. However, anyone can develop this disease.
Types of Tumours Associated with HPRCC
HPRCC causes the development of papillary renal cell carcinoma, which is a common type of kidney cancer. Unlike sporadic (random) kidney cancers, HPRCC tumours are generally bilateralBoth sides. (i.e. affect both kidneys) and multifocal (has more than one tumour presenting on each kidney).
The kidneys are a pair of bean-shaped organs that sit in the middle of your back on each side of your spine. It is responsible for filtering excess water and waste products from the bloodhello, and converting them into urine to be removed from the body. The kidneys also produce and secrete certain hormones that regulate blood pressure and initiate the production of red blood cells
• the smallest, living parts of the body. Cells work together to form or build the body
• a human is made up of millions of Cells
• Cells reproduce themselves to make sure a body stays working
• sometimes Cells can be abnormal or damaged and these can be cancer cells
.
Papillary renal cell carcinoma (PRCC) is the second most common type of renal cell carcinoma, and is characterised by renal cells arranged in finger-like structures. There are two types of PRCC, which are classified by growth rate. Type I PRCC is more common in patients with HPRC, and tends to grow slowly. Type II is less common, tends to be more aggressive and grows quicker.
For more information on kidney cancer (RCC), please refer to the Rare Cancers Australia Kidney Cancer (Renal Cell Carcinoma (RCC)) page.
Treatment
As PRCC is the only malignancy thus far that is associated with this disease, HPRC is staged and graded in the same way.
If PRCC is detected, it will be staged and graded based on size, metastasisKnown as secondary cancer, it grows/spreads from the original/ primary cancer. (whether the cancer has spread to other parts of the body) and how the cancer cells look under the microscope. Staging and grading helps your doctors determine the best treatment for you.
Cancers can be staged using the TNM staging system:
- T (tumour) indicates the size and depth of the tumour.
- N (nodes) indicates whether the cancer has spread to nearby lymphA clear fluid that moves through the body through the lymphatic system, carrying cells that fight infection. nodes.
- M (metastasis) indicates whether the cancer has spread to other parts of the body.
This system can also be used in combination with a numerical value, from stage 0-IV:
- Stage 0: this stage describes cancer cells in the place of origin (or ‘in situ’) that have not spread to nearby tissue.
- Stage I: cancer cells have begun to spread to nearby tissue. It is not deeply embedded into nearby tissue and had not spread to lymph nodes. This stage is also known as early-stage cancer.
- Stage II: cancer cells have grown deeper into nearby tissue. Lymph nodes may or may not be affected. This is also known as localisedOnly to one area/place of body. cancer.
- Stage III: the cancer has become larger and has grown deeper into nearby tissue. Lymph nodes are generally affected at this stage. This is also known as localised cancer.
- Stage IV: the cancer has spread to other tissues and organs in the body. This is also known as advancedAt a late stage, far along or metastatic cancer.
Cancers can also be graded based on the rate of growth and how likely they are to spread:
- Grade
• A score that tells how quickly a tumour might spread and grow by looking at how the abnormal cells and tissue look under a microscope.
• Grade is not the same as stage.
• Grading is different depending on the type of cancer.
I: cancer cells present as slightly abnormal and are usually slow growing. This is also known as a low-grade tumour. - Grade II: cancer cells present as abnormal and grow faster than grade-I tumours. This is also known as an intermediate-grade tumour.
- Grade III: cancer cells present as very abnormal and grow quickly. This is also known as a high-grade tumour.
Once your tumour has been staged and graded, your doctor may recommend genetic testing, which analyses your tumour DNA and can help determine which treatment has the greatest chance of success. They will then discuss the most appropriate treatment option for you.
Treatment is dependent on several factors, including location, stage of disease and overall health.
Treatment options for patients with HPRCC may include:
- Surgery, potentially including:
- Partial nephrectomy (removing the tumour and some surrounding tissue).
- Radical nephrectomy (removal of the kidney, the adrenal gland that sits on top of the kidney, and nearby tissues and lymph nodes).
- Lymph nodeA small lump or mass of tissue in your body.A small lump or mass of tissue in your body.A small lump or mass of tissue in your body. dissection (removal of lymph nodes).
- Radiation therapy, potentially including stereotactic body radiation therapy (SBRT).
- Cryotherapy.
- Targeted therapy.
- Immunotherapy.
- Thermal ablation.
- Watch and wait.
- Clinical trials.
- Palliative careLessening pain without curing the disease..
For more information on the treatment options, please refer to the Rare Cancers Australia Treatment Options page.
Risk factors
HPRCC is caused by a genetic mutation of the mesenchymal-epithelial transition factor (MET) gene, which is a type of tumour suppressor gene. It is an autosomal dominant disease, which means that you have a 50% chance of developing the condition if one of your parents carries the mutation.
Early symptoms
Early stage HPRCC may appear symptomatic. As the tumour(s) progress, some of the following symptoms may appear:
- Blood in the urine.
- Pain/dull ache in the side or lower back.
- Unexplained weight loss.
- Fatigue.
- Fever.
- A lump in the kidney region.
Not everyone with the symptoms above will have cancer, but see your general practitioner (GP) if you are concerned.
Diagnosis/diagnosing
If your doctor suspects you have HPRCC, they may order some of the following tests to confirm the diagnosisUsing medical test results, identify and name a disease and/or condition. and refer you to a specialist for treatment. The tests required for diagnosis will often vary based on the symptoms present, and where the tumour(s) are suspected to be located.
Physical examination
Your doctor will collect your overall medical history, as well as your current symptoms. Following this, they may examine your body to check for any abnormalities.
Genetic testing
In addition to guiding treatment, genetic testing can be used to help diagnose certain conditions. HPRCC has been linked to mutations in the MET gene, which changes specific protein functions. These changes can lead to cell abnormalities and, in extreme cases, cancer. Your doctor may perform genetic testing to better understand your condition.
Imaging tests
The doctor will take images of your body using magnetic resonance imagingTaking images/photos of inside body parts using magnet rather than x-ray. (MRITaking images/photos of inside body parts using magnet rather than x-ray.), a computed tomography scan (CT scanA 3-D (three dimensional) x-ray pictures that gives more information than a normal x-ray.), ultrasound, radioisotope bone scan and/or positron emission tomography (PET scanA test that uses a radioactive drug to show a picture of how your tissues and organs are working. Also known as a positron emission tomography scan.), depending on where it is suspected the cancer is. The doctor may also look at other parts of the body and look for signs of metastasis.
Urine and Blood tests
Urine and blood tests are used to assessTo measure, look at and learn from. overall health and detect any abnormalities. Some of these tests may include:
- General blood test to assess overall health.
- Full blood countA test that counts red blood cells, white blood cells and platelets in the blood., which measure the levels of red blood cells, white blood cells and plateletsSmall blood cells (shaped like plates) whose job it is to come together in a group(s) or clump(s) to stop bleeding when you are injured or cut..
- Blood chemistry and/or blood hormoneA chemical made in different body parts/organs that is sent out to other parts of the body through the bloodstream. Hormones watch over and help control how other cells or organs act. studies, which analyse the levels of certain hormones and other substances in the blood.
- Urinalysis, which analyses the colour of your urine and its contents (e.g., sugar, protein, red and/or white blood cells etc.).
Exploratory procedures
You may require an exploratory procedure if you have blood in your urine, or if the imaging scans were inconclusive. Some of these procedures include:
- CystoscopyTo examine the bladder with an endoscope. (examination of the bladderA small, elastic/muscle type sac/bag in the body, where urine (wee) is stored for urinating/weeing. Is found in the lower abdomen/belly area.).
- Ureteroscopy (examination of the ureters).
- Ureterorenoscopy (examination of the kidneys).
In all procedures, a thin tube with a light and a camera is inserted through either the urinary tract to examine these areas and detect any abnormalities.
Biopsy
Once the location(s) of the cancer has been identified, the doctor will perform a biopsyTo take a small piece of body tissue and test it in a laboratory. to remove a section of tissue using a needle. The tissue sample will then be analysed for cancer cells. This can be done by a fine needle aspiration (FNA) or a core needle biopsy (CNB).
