Urological tumour or cancer (A/P-AFF)

Individual from a family in whom a mutation in a cancer predisposition gene has NOT been identified (Adult and Paediatric Conditions in AFFECTED Patients)

Emergency department referrals

If any of the following are present or suspected, refer the patient to the emergency department (via ambulance if necessary) or seek emergent medical advice if in a remote region.

No referrals to emergency relating to clinical genetics

Does your patient wish to be referred?

Minimum referral criteria

Does your patient meet the minimum referral criteria?

Category 1

Appointment within 30 days is desirable

Patient that fulfill Category 2 or 3 criteria for renal cell or urothelial cancer, and their cancer is metastatic
Hereditary leimyomatosis and renal cell cancer (HLRCC)- associated renal cell carcinoma, papillary type 2 renal cell carcinoma, fumarate hydratase (FH) – deficient renal carcinoma
Anaplastic sarcoma of the kidney
Metastatic castrate resistant prostate cancer.

Category 2

Appointment within 90 days is desirable

Urothelial (transitional cell) carcinoma that is MMR-deficient
Personal history of urothelial carcinoma and at least one of the following:
- A family history of at least one close relative with colorectal or endometrial cancer diagnosed at age < 50 years
- At least two close relatives with a Lynch syndrome-associated cancer at any age (further information can be found on the GHQ website)
An individual whose referral to GHQ was recommended after review of a relative
Tumour testing has identified a potential germline mutation in a familial cancer predisposition gene.
Succinate dehydrogenase (SDH)-deficient renal carcinoma (regardless of age)

Category 3

Appointment within 365 days is desirable

Urothelial (transitional cell) carcinoma that is MMR-deficient
A personal history of kidney cancer and one or more close relatives with kidney cancer diagnosed at age < 50 years in smokers, or at any age in non-smokers
Multifocal/bilateral renal tumour (benign or malignant) regardless of age
Renal cell carcinoma diagnosed at age < 40 years (regardless of histology)
Chromophobe renal cancer or renal oncocytoma diagnosed at age < 50 years
Hybrid oncocytic/chromophobe renal tumour (regardless of age)
Succinate dehydrogenase (SDH)- deficient renal carcinoma (regardless of age)
A personal history of kidney cancer and a personal or family history of at least one of the following:
- Fibrofolliculomas
- Trichodiscomas
- Trichilemmomas
- Spontaneous pneumothorax
- Cutaneous leiomyomas
- Multiple uterine fibroids diagnosed at age < 40 years
- Paraganglioma or phaeochromocytoma
- Haemangioblastoma of the retina (retinal angioma) or central nervous system
- Pancreatic neuroendocrine tumour
- Multiple panacreatic cysts
Renal angiomyolipoma and personal history of at least one of the following:
- Multiple lesions
- Renal cysts
- Characteristic features of tuberous sclerosis complex
Cystic nephroma
Prostate cancer.

If your patient does not meet the minimum referral criteria

Consider other treatment pathways or an alternative diagnosis.

If you still need to refer your patient:

Please explain why (e.g. warning signs or symptoms, clinical modifiers, uncertain about diagnosis, etc.)
Please note that your referral may not be accepted or may be redirected to another service

Other important information for referring practitioners

Not an exhaustive list

The offer of an appointment by Genetic Health Queensland (GHQ) does NOT guarantee that the patient will be offered a publicly funded gene test.
If the patient is an UNTESTED blood relative of a person with an identified mutation in a cancer predisposition gene please refer to the untested blood relative condition
If the patient has undergone mainstreamed and/or private genetic testing refer to the Mainstreamed or private testing condition
Eligibility for publicly funded genetic testing will be determined using eviQ criteria. See eviQ prostate cancer panel testing protocol for current guidelines for genetic testing for prostate cancer (link).
If SDH-deficient or HLRCC associated kidney cancer is suspected please arrange for IHC for SDHA, SDHB and fumarate hydratase to be undertaken prior to or at the time of referral (further information can be found on the GHQ website).
If the patient fulfills eviQ criteria for genetic testing and has a very limited life expectancy, arrange for two separate blood collections of 2x4mL EDTA tubes each to be sent to the Molecular Genetics Laboratory, Pathology Queensland (RBWH) for “DNA extraction and storage” prior to or at the time of referral. Advise Pathology Queensland that these specimens have been collected in accordance with Genetics Health Queensland protocols
Patients will be mailed a family history questionnaire to complete and return. Failure to do so may result in removal of the patient from the waitlist.
Clinical urgency is the dominant consideration in the prioritisation of a referral for a child currently in out of home care (OOHC), or at risk of entering or leaving OOHC.

Referral requirements

A referral may be rejected without the following information.

Essential referral information

As much detail as possible about the patient’s personal of cancer including the following:
- type/s of cancer
- age at diagnosis
- treatment including outcome
- known relevant family history
Relevant pathology including results of any genetic testing if performed and of immunohistochemistry for SDHA, SDHB and fumarate hydratase if done (if results are available on Auslab please indicate this on referral)
Relevant imaging
Confirmation of OOHC (where appropriate) and contact details to send correspondence for OOHC

Additional useful information (useful for processing the referral)

If the family is known to GHQ, include the GHQ reference number (GF) if known
Suspected von Hippel Lindau syndrome (VHL): Reports from previous ophthalmology review if done

Out of catchment

Metro North Health is responsible for providing public health services to the people who reside within its boundaries. Special consideration is made for patients requiring tertiary care or services that are not provided by their local Hospital and Health Service. If your patient lives outside the Metro North Health area and you wish to refer them to one of our services, inclusion of information regarding their particular medical and social factors will assist with the triaging of your referral.

Clinical Modifiers (where relevant)

Impact on employment
Impact on education
Impact on home
Impact on activities of daily living
Impact on ability to care for others
Impact on personal frailty or safety
Identifies as Aboriginal and/or Torres Strait Islander

Reason for Referral (essential)

To establish a diagnosis
For treatment or intervention
For advice and management
For specialist to take over management
Reassurance for GP/second opinion
For a specified test/investigation the GP can’t order, or the patient can’t afford or access
Reassurance for the patient/family
For other reason (e.g. rapidly accelerating disease progression)
Clinical judgement indicates a referral for specialist review is necessary

Clinical Information (essential)

Presenting symptoms (evolution and duration)
Physical findings
Details of previous treatment (including systemic and topical medications prescribed) including the course and outcome of the treatment
Body mass index (BMI)
Details of any associated medical conditions which may affect the condition or its treatment (e.g. diabetes), noting these must be stable and controlled prior to referral
Current medications and dosages
Drug allergies
Alcohol, tobacco and other drugs use