Endocrine cancer or tumour (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 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 genetic testing or review

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

  • Medullary thyroid cancer diagnosed at any age
  • Adrenocortical carcinoma diagnosed at any age
  • Metastatic phaeochromocytoma or paraganglioma diagnosed at any age
  • Metastatic parathyroid carcinoma diagnosed at any age

Category 2

Appointment within 90 days is desirable

  • A patient who fulfils Category 3 criteria and has a limited life expectancy due to advanced age and/or co-morbidities

Category 3

Appointment within 365 days is desirable


  • Unilateral phaeochromocytoma diagnosed at age ≤ 50 years
  • Bilateral phaeochromocytoma (regardless of age)
  • Unilateral phaeochromocytoma with at least one of the following (regardless of age):
    • abnormal SDHB and/or SDHA immunohistochemistry
    • multifocal
    • family history of phaeochromocytoma, paraganglioma or kidney cancer
    • also has one or more paraganglioma
    • also has renal cancer
    • another feature of VHL disease
    • features of neurofibromatosis type 1
  • Paraganglioma (regardless of age)

Other adrenal tumours

  • Primary pigmented nodular adrenocortical disease (PPNAD)

Gastroenteropancreatic neuroendocrine tumour (GEP-NET)

  • Gastrinoma (gastrin secreting GEP-NET) regardless of age
  • GEP-NET with clear cell histology (regardless of age)
  • GEP-NET with at least one of the following:
    • diagnosed at age ≤ 40 years
    • multifocal
    • family history of GEP-NET, or multi-gland parathyroid adenoma/hyperplasia or pituitary adenoma (excluding micro-prolactinoma in an adult)
    • another feature of MEN1 disease

Pituitary tumour

  • Pituitary adenoma diagnosed at age ≤ 20 years regardless of adenoma size
  • Pituitary macro-adenoma diagnosed at age ≤ 30 years (over 10mm)
  • Growth hormone secreting pituitary adenoma with the phenotype of gigantism
  • Family history of pituitary adenoma, or GEP-NET or multi-gland parathyroid adenoma/hyperplasia

Thyroid tumour or cancer

  • Cribiform-morula form of thyroid cancer (regardless of age)
  • Epithelial thyroid cancer (follicular or papillary) and other features of Cowden syndrome (link to GHQ website)

Multiple endocrine tumours

  • two or more endocrine tumours in a single individual at any age (excluding non-medullary thyroid cancer and microprolactinoma in an adult)

Parathyroid tumour

  • Parathyroid adenoma/hyperplasia diagnosed at age ≤ 40 years
  • Parathyroid adenoma/hyperplasia with at least one of the following (regardless of age):
    • multi-gland adenoma or hyperplasia (in the absence of chronic renal failure)
    • abnormal parafibromin immunohistochemistry
    • family history of multi-gland parathyroid adenoma/hyperplasia, or GEP-NET, or pituitary adenoma (excluding micro-prolactinoma in an adult)
    • another feature of MEN1 disease
    • jaw tumours (ossifying fibromas of the mandible or maxilla)
  • Familial hyperparathyroidism
  • Parathyroid carcinoma
  • Personal history of hypercalcaemia where the results of genetic testing will influence treatment (e.g. distinguish between FHH and familial hyperparathyroidism when the results of serum/urine testing and specialist endocrinology review are inconclusive)

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 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 within the Genetics CPC
  • If the patient has undergone mainstreamed and/or private genetic testing refer to the Mainstreamed or private testing condition within the Genetics CPC
  • Eligibility for publicly funded genetic testing will be determined using eviQ criteria.
  • Patients will be asked to provide detailed family information either during a telephone consultation (if urgent) or via a family history questionnaire (Cat 3). One or more Consent to Release information forms may be provided to forward to family members to obtain their consent to confirm details of the reported family history.
  • It would be helpful if the following investigations could be arranged prior to or at the time of referral if tumour tissue available and if the referral is from a specialist:
    • for paraganglioma and phaeochromocytoma: Immunohistochemistry for SDHA and SDHB (further information can be found on the GHQ website)
    • for atypical parathyroid adenomas, parathyroid carcinomas and familial hyperparathyroidism: Immunohistochemistry for parafibromin (further information can be found on the GHQ website)
  • If the patient fulfils 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.

Referral requirements

A referral may be rejected without the following information.

  • As much detail as possible about the patient’s personal history of tumour/cancer including the following:
    • type/s of tumour or cancer
    • age at diagnosis
    • treatment including outcome
    • relevant imaging
    • relevant pathology including results of any genetic testing if performed
    • if referral is from a specialist, provide immunohistochemistry for SDHA, SDHB or parafibromin if relevant (if results are available on Auslab please indicate this on referral)
    • known details of relevant family history

Additional useful information (useful for processing the referral)

  • If the family is known to GHQ, include the GHQ reference number (GF) if known

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.

  • 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
  • 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
  • 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
  • Full name (including aliases)
  • Date of birth
  • Residential and postal address
  • Telephone contact number/s – home, mobile and alternative
  • Medicare number (where eligible)
  • Name of the parent or caregiver (if appropriate)
  • Preferred language and interpreter requirements
  • Identifies as Aboriginal and/or Torres Strait Islander
  • Full name
  • Full address
  • Contact details – telephone, fax, email
  • Provider number
  • Date of referral
  • Signature
  • Willingness to have surgery (where surgery is a likely intervention)
  • Choice to be treated as a public or private patient
  • Compensable status (e.g. DVA, Work Cover, Motor Vehicle Insurance, etc.)
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