Referral to emergency

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

  • nil

Inclusions

  • multiple endocrine tumours
    • two or more endocrine tumours in a single individual excluding non-medullary thyroid cancer and microprolactinoma in an adult
  • adrenal tumours
    • adrenocortical carcinoma
    • primary pigmented nodular adrenocortical disease (PPNAD)
  • neuroendocrine tumours (NET) of the embryonic foregut
    • thymic and or bronchial NET at any age, excluding small cell lung cancer
    • gastroduodenopancreatic NETs
      • gastrin secreting GEP-NET (gastrinoma) regardless of age
      • unifocal (GDP-NET) diagnosed under age 40 years
      • multifocal (GDP-NET) regardless of age
    • NET and another feature of MEN1
    • NET and a family history of GDP-NET, or primary hyperparathyroidism
  • parathyroid tumour
    • parathyroid carcinoma
    • parathyroid adenoma/hyperplasia diagnosed under age 40 years
    • parathyroid adenoma/hyperplasia and at least one of the following:
      • multi-gland adenoma or hyperplasia (in the absence of chronic renal failure)
      • abnormal parafibromin immunohistochemistry
      • another feature of multiple endocrine neoplasia type 1 MEN1
      • jaw tumours (ossifying fibromas of the mandible or maxilla)
      • family history of multi-gland parathyroid adenoma/hyperplasia, GDP-NET or pituitary adenoma (excluding micro-prolactinoma in an adult)
      • two or more close relatives with parathyroid adenoma/hyperplasia
  • pituitary tumour
    • pituitary adenoma diagnosed under age 20 years regardless of size
    • pituitary macro-adenoma, over 10mm diagnosed under age 30 years
    • growth hormone secreting pituitary adenoma and features of gigantism
    • pituitary adenoma and another feature of MEN1, excluding prolactinoma in an adult
    • pituitary adenoma and a family history of pituitary adenoma, GEP-NET or multi-gland parathyroid adenoma/hyperplasia
  • phaeochromocytoma/paraganglioma
    • one or more paraganglioma (extra-adrenal)
    • bilateral pheochromocytoma
    • unilateral pheochromocytoma and one or more of the following
  • thyroid tumour
    • medullary thyroid cancer
    • cribriform-morula variant of epithelial thyroid cancer
    • epithelial thyroid cancer (follicular or papillary) and other features of PTEN hamartoma (Cowden) syndrome
    • multinodular goitre or epithelial thyroid cancer and another DICER1 associated tumour/cancer

Exclusions

Triage categories

Category 1 (appointment clinically indicated within 30 days)

  • distant metastatic disease with a short predicted life expectancy, contact will usually be made within 7 days
  • results of genetic testing, if offered, will influence local or systemic treatment decisions
  • personal and or family history of cancer with high suspicion of a cancer predisposition and the patient and or their partner is pregnant and review/genetic testing will impact investigation and management in pregnancy. Contact will generally be made within 7 days, usually 2 to 3 days

Category 2 (appointment clinically indicated within 90 days)

  • personal and/or any family history of a genetic cancer predisposition, where a specific causative gene variant has been identified on a genetic test
  • personal history of cancer and is currently on, or about to go onto a palliative care pathway, contact will usually be made within 7 days
  • referral recommended after review of a relative
  • tumour testing has identified a potential germline mutation in a genetic cancer predisposition gene

Category 3 (appointment clinically indicated within 365 days)

  • all other referrals meeting inclusion criteria for the relevant cancer/tumour

For information on referral forms and how to import them, please view general referral information.

Essential referral information

Completion required before first appointment to ensure patients are ready for care. Please indicate in the referral if the patient is unable to access mandatory tests or investigations as they incur a cost or are unavailable locally.

  • identifies as Aboriginal and/or Torres Strait Islander  
  • relevant social history, including identifying if you feel your patient is from a vulnerable population and/or requires a third party to receive correspondence on their behalf
  • interpreter required
  • as much detail as possible about the patient’s personal history of disease including the following:
    • clear indication of clinical need for urgency. Has the referral been prompted by a pregnancy or imminently planned pregnancy? Will a genetic test result inform local or systemic treatment decisions?
    • planned time frame of chemotherapy, radiotherapy, or surgery to indicate when genetic test results are required, if offered
    • cancer/tumour diagnosis, age at diagnosis and other clinical features
    • details of prognosis in patients with metastatic disease
    • details and results of genetic testing if performed including a copy of the genetic test result
    • relevant histopathology reports and/or imaging results
  • presence or absence of relevant family history with names of affected relatives

Additional information to assist triage categorisation

  • known details of relevant family history (first and second-degree blood relatives) including:
    • date of birth
    • previous names/surnames
    • clinical diagnosis/features and age at diagnosis
    • relation to patient including whether maternal or paternal
  • if the family is known to a Clinical Genetics service in South Australia, if possible, please provide the genetics file number and names of relative/s seen
  • if the family are known to another genetic service, the name of the service, and family reference number, if available

Clinical management advice

The Adult Genetics Unit (AGU) provides services through a network of clinics at the Queen Elizabeth Hospital, Royal Adelaide Hospital, Flinders Medical Centre, the Lyell McEwin Hospital, Women’s and Children’s Hospital and telehealth. All referrals should be addressed to the AGU.

The offer of an appointment by clinical genetics does not guarantee that a publicly funded genetic test will be offered.

If the patient has a limited life expectancy, arrange collection of 2 x 4ml of blood in ethylenediamine tetraacetic acid (EDTA); the request form should ask for “deoxyribonucleic acid (DNA) storage” and include a brief note giving the personal and family history. Send to Molecular Pathology, SA Pathology at Frome Road, Adelaide, 5000.

Patients may be asked to provide detailed written family information using electronic correspondence, or paper-based correspondence. This may be followed by a telephone consultation with a genetic counsellor or allied health assistant prior to the appointment.

Consent forms may be provided for relatives allowing permission to access information about their health.

Clinical resources

Consumer resources