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Endocrine cancer or tumour genetics - Affected individual from a family in whom a mutation in a cancer predisposition gene has NOT been identified


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

  • No referrals to emergency relating to clinical genetics
  • 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.
  • 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.
  • 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

Clinical resources

Patient resources


Minimum Referral Criteria

  • Category 1
    (appointment within 30 calendar days)
    • Medullary thyroid cancer diagnosed at any age
    • Adrenocortical carcinoma diagnosed at any age
    • Metastatic pheochromocytoma or paraganglioma diagnosed at any age
    • Metastatic parathyroid carcinoma diagnosed at any age
    • Metastatic gastroduodenopancreatic neuroendocrine tumour (GDP-NET
  • Category 2
    (appointment within 90 calendar days)
    • A patient who fulfils Category 3 criteria and has a limited life expectancy due to advanced age and/or co-morbidities
    • An individual whose referral to GHQ was recommended after review of a relative.
    • Primary hyperparathyroidism diagnosed at age ≤ 40 years in a patient who has not yet undergone parathyroid surgery.
    • 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)
  • Category 3
    (appointment within 365 calendar days)


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

    Other adrenal tumours

    • Primary pigmented nodular adrenocortical disease (PPNAD)

    Gastroduodenopancreatic neuroendocrine tumour (GDP-NET)

    • Gastrinoma (gastrin secreting GDP-NET) regardless of age
    • GDP-NET with clear cell histology (regardless of age)
    • GDP-NET with at least one of the following:
      • diagnosed at age ≤ 40 years
      • multifocal
      • family history of GDP-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

    • Cribriform-morula form of thyroid cancer (regardless of age)
    • Epithelial thyroid cancer (follicular or papillary) and other features of Cowden syndrome

    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 (not fulfilling Cat 2 criteria)

    • 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 GDP-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

1. Reason for request Indicate on the referral

  • To establish a diagnosis
  • For treatment or intervention not otherwise accessible to the patient
  • For advice regarding management
  • To engage in an ongoing shared care approach between primary and secondary care
  • Reassurance for GP/second opinion
  • Reassurance for the patient/family

2. Essential referral information Referral will be returned without this

  • For other reason (e.g. rapidly accelerating disease progression)As much detail as possible about the patient’s personal history of cancer including the following:
    • type/s of cancer
    • age at diagnosis
    • treatment including outcome
    • known details of relevant family history
  • Confirmation of OOHC (where appropriate) and contact details to send correspondence for OOHC
  • 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)
  • Relevant imaging

3. Additional referral information Useful for processing the referral

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

4. Request

Patient's Demographic Details

  • 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

Referring Practitioner Details

  • Full name
  • Full address
  • Contact details – telephone, fax, email
  • Provider number
  • Date of referral
  • Signature

Relevant clinical information about the condition

  • 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

Reason for request

  • 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 modifiers

  • 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

Other relevant information

  • 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.)
  • Please note that where appropriate and where available, the referral may be streamed to an associated public allied health and/or nursing service.  Access to some specific services may include initial assessment and management by associated public allied health and/or nursing, which may either facilitate or negate the need to see the public medical specialist.

  • A change in patient circumstance (such as condition deteriorating, or becoming pregnant) may affect the urgency categorisation and should be communicated as soon as possible.

  • 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.