Cancer is a group of conditions that occurs when cells in the body grow and multiply in an uncontrolled way.¹ Over time, these abnormal cells outnumber the normal cells in the area, preventing the cells or organs from functioning properly.² These abnormal cells can also form a mass, known as a tumour. Tumours can be benign (non-cancerous, and do not spread to other parts of the body) or malignant (cancerous and can spread into nearby tissues or other parts of the body).³ Cancer can affect any part of the body.

There are many different types of cancers. Whilst some cancers are common amongst the population, there are many cancers that are considered rare or less common. Rare cancers often affect a small number of people and are often found in people that are much older or younger than expected, including children and teenagers.^4,5 Rare cancers can also be a common cancer that occur in an unusual part of the body, such as melanoma (that usually affects the skin) in the eye or breast cancer in men.

More information about rare cancers or about a specific type of rare cancer can be found at:

• Rare Cancers Australia: KnowledgeBase
• Cancer Council: Rare Cancers

Synonyms: Rare tumoral disease, rare neoplastic disease, rare malignant tumours.⁶

Universal rare disease classifications provide a common language for recording, reporting and monitoring diseases. Please visit the Rare Disease Classifications page for more information about these internationally recognised classifications.

ORPHA: 250908 Rare neoplastic disease

There is no known ICD:11 classification.

Please refer to the individual rare cancer for their specific classifications.

There are a wide range of symptoms and severity for rare cancers. Symptoms depend on the types of rare cancers and the parts of the body affected.³ Whilst it may not be the case for all rare cancers, some of the signs and symptoms include:³

• unusual lump or swelling
• fatigue
• unexplained pain or ache
• unexplained weight loss
• fever

Rare Cancers Australia: KnowledgeBase has more information on symptoms for a specific type of rare cancer.

Please speak to your medical team to learn more about the signs and symptoms of a specific type of rare cancer.

Rare diseases are often serious and progressive, exhibiting a high degree of symptom complexity, leading to significant disability. Majority of the estimated two million Australians living with a rare disease meet the Australian Government’s definition for disability (in accordance to the Australian Public Service Commission and Australian Bureau of Statistics), and many experience severe and permanent disability impacts. If you or someone you care for is experiencing disability-related impacts from a rare condition, please speak with a health or disability professional for advice. Information about relevant disability support can be found at the RARE Portal’s Disability Support Information page.

The cause of many rare cancers is often unknown. It is not yet fully understood why a person may develop a rare cancer, but there are some risk factors associated with some rare cancers.³ These risk factors may not cause the rare cancers, but may increase a person’s chance/likelihood of developing the cancer.^1,3 Examples of risk factors include genetic predisposition (certain genetic factors can predispose a person to cancer, and may run in the family), occupational exposure to certain chemicals, dusts and industrial processes, tobacco use, radiation, infections, heavy alcohol consumption, diet and obesity.^3,7 Some individuals may have these risk factors but may still never develop cancer, whilst there are also those who develop cancer but have none of these risk factors.³

Diagnosis of rare cancers may be made based on:^4,8,9

• Physical examination to check for lumps, enlarged organs or other signs of cancer
• Imaging and scans such as PET (Positron Emission Tomography) scans, ultrasound, MRI (magnetic resonance imaging), X-rays, CT scans to detect tumours in the body
• Blood tests
• Biopsy – by taking a sample of cancer tissue to be examined under microscope to look for signs of cancer
• Molecular testing to identify genetic changes in tumours

In some cases, genetic testing may be performed to identify if an individual has a genetic condition that increases their risk to developing cancer.

Please speak to your medical team to learn more about the available diagnostic pathway for a specific rare cancer.

Treatment will depend on the type and stage of rare cancer. This may involve:^4,8

• Surgery to remove tumours
• Radiation therapy – controlled dose of radiation at a specific area of the body to kill localised cancer cells
• Chemotherapy – drugs that destroy or slow the growth of cancer cells
• Immunotherapy – drugs that induce the body’s immune response against cancer cells
• Targeted therapy – drugs that target specific features of cancer cells to stop the cancer from growing or spreading
• Organ transplant or stem cell transplant, which may be suitable for certain types of rare cancers

For many rare cancers, some therapies may only be available through clinical trials.

Please speak to your medical team to learn more about the possible treatment or management options for your condition. Treatment will depend on an individual’s specific condition and symptoms. It is also important to stay connected to your medical team so that you can be made aware of any upcoming clinical trial opportunities. For many rare diseases, treatment options may be limited. Participation in a clinical trial may provide access to new or emerging therapies.

Healthcare professionals involved in the care of individuals with rare cancers may include general practitioners (GP), paediatricians, surgeons, medical oncologists, radiation oncologists, cancer nurses, dietitians, and others. The need for different healthcare professionals may change over a person’s lifetime and extend beyond those listed here.

Clinics: Rare Cancers Australia: Cancer Services has a list of Australian hospitals and treatment centres with cancer care services (this includes both public and private treatment centres).

Clinical care for rare diseases often involves a multidisciplinary team of medical, care and support professionals. Please note that the information provided here is as a guide and that RVA does not necessarily monitor or endorse specific clinics or health experts.

For many rare diseases, palliative care services may be relevant and useful. Palliative care services are available for people (adults, children and their families) living with a life-limiting illness and is not only for end-of-life care. It can also help at any stage of illness from diagnosis onwards, and will look different for different people. Palliative care services provide assistance, support, resources and tools to help people manage their illness and the symptoms, ease pain, and improve comfort and quality of life. If this is relevant to you and you wish to find out more information about palliative care and how it can help you, please visit:

• Australian Institute of Health and Welfare: Palliative care Overview
• Australian Government Department of Health, Disability and Ageing: Palliative care
• Palliative Care Australia

Cancer Australia: Optimal Care Pathways outlines consistent, safe, high quality, and evidence-based care for people with cancer. It is available for different cancer types and population groups, including for Aboriginal and Torres Straight Islander people.

Cancer Institute NSW eviQ: Rare Cancers includes evidence-based cancer treatment protocols and information developed by multidisciplinary teams of cancer specialists, for the Australian context.

The following guidance is available from international experts outside Australia; however, there may be information that is not relevant or applicable to the Australian context, and may not be up to date:

National Care Comprehensive Network (NCCN) Clinical Practice Guidelines in Oncology includes guidelines for different types of cancers including rare cancers. The guidelines are developed by clinicians and oncology researchers from cancer centers around United States of America.

Individuals living with rare diseases may have complex medical issues and disabilities, which are not always visible. It is often useful to refer to their medical history as well as personal information such as a medical card, doctor’s letter, or if available, a rare disease passport, for relevant information.

In addition, individuals, their parents, families and carers often develop extensive expertise on their specific rare disease. It is important to recognise that they can contribute valuable knowledge about their rare condition. Rare diseases often impact individuals differently, so it’s important to consider a person’s lived experience.

Centre for Analysis of Rare Tumours (CART-WHEEL) rare tumour database is a data portal for consumer-driven research into rare tumours.

There are specific considerations around participating in rare disease research, including clinical trials. It is important to be mindful of issues such as data privacy, research ethics, consent and differences in research regulations between Australia and other countries. For more information, please visit the RARE Portal’s Considerations for Participating in Health and Medical Research page.

If you are interested in finding clinical trials for your condition, please visit the following websites; however, there may not be any clinical trials available:

• Australian Clinical Trials
• ClinicalTrials.gov

It is best to discuss your interest in research, including clinical trials,  with your medical team to determine suitability and eligibility.

Australian Organisations:

Rare Cancers Australia
Website: https://www.rarecancers.org.au/

Rare Cancers Australia aims to improve awareness, support and treatment of Australians with rare and less common (RLC) cancers. The Rare Cancers Australia’s KnowledgeBase provides information about specific cancers as well as information about relevant services that are available.

There may be rare disease organisations that provide support specifically for a particular type (or a particular group) of rare cancer. Rare Cancers Australia: Support Services has a list of support organisations that provide support to individual types of rare cancers.

Cancer Council Australia
Website: https://www.cancer.org.au/

Cancer Council Australia works across every aspect of every cancer, from research to prevention and support. Cancer Council Australia is committed to supporting all Australians affected by cancer, including rare cancers.

Please note that RVA does not monitor or endorse each group/organisation’s operational governance and activities. When engaging with a group, please consider the information on the RARE Portal’s Finding Helpful Peer and Community Supports page.

Rare cancers vary between individuals, and each person’s experience is unique.

Rare Cancers Australia: Personal Stories has personal stories of individuals living with rare and less common cancers.

If you would like to share your personal story with RVA, please visit the Rare Voices Australia: Share Your Story page. RVA will consider your story for publishing on our website and inclusion on the RARE Portal.

Rare Cancers Australia: How we help you has information on emotional, financial, peer, and carers support. Rare Cancers Australia also runs a Patient Support Program where individualised support is provided by Specialist Cancer Navigators.

Cancer Council: Support Services has information on emotional, financial and practical support. Cancer Council 13 11 20 is a free, confidential telephone information and support service run by Cancer Councils in each state and territory.

Cancer Australia: For Aboriginal and Torres Strait Islander people has resources specific for Aboriginal and Torres Strait Islander people with cancer, their families and communities.

For information on available government and social services that provide support for individuals with a rare disease, please visit the National and State Services pages.

People living with a rare disease often face unique challenges such as diagnostic delays, misdiagnoses, limited treatment options, and limited access to rare disease specialists and support. These challenges may impact people’s emotional wellbeing and quality of life. Many find it helpful to seek mental health and wellbeing support to cope with ongoing stress and uncertainty. Connecting with people who have shared experiences through a support group may also be helpful. Information about relevant mental health and wellbeing support can be found at:

• Mental Health and Wellbeing Support for Australians Living with a Rare Disease
• The National and State Services pages underneath the ‘Mental Health’ sections listed

Further information on rare cancers can be found at:

• Rare Cancers Australia: KnowledgeBase
• Rare Cancers Australia: Information and Support
• Cancer Council: Rare Cancers
• Cancer Council Australia: Understanding Rare and Less Common Cancers

Cancer Australia: Australian Comprehensive Cancer Network is an integrated national network that connects cancer services and multidisciplinary health professionals across public and private health systems all across Australia.

The Australian Rare Cancer (ARC) Portal is an online referral service for clinicians to access a network of rare cancer expert support, guidelines and research for their patients diagnosed with a rare cancer.

Clinical Oncology Society of Australia (COSA) Rare Cancers Group is the national oncology community bringing together multidisciplinary health professionals across rare cancers to advance care and improve outcomes.

Cancer Australia: Clinicians Hub

Cancer Australia: Resources for health professionals and health services who work with and for Aboriginal and Torres Strait Islander people –  provide guidance on the delivery of best practice, culturally safe, evidence-based cancer care, support, programs and policies.

Rare Cancers Australia: Health Professionals Resources

Orphanet: Rare neoplastic disease

This page has been co-developed by Rare Voices Australia (RVA)’s RARE Portal team in consultation with Rare Cancers Australia.

If you are aware of any additional information that may benefit stakeholders with an interest in this page, or if you notice any broken links or inaccurate information, please let us know via the Contribute page.