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Neurological or ocular tumour or cancer: Individual from a family in whom a mutation in a cancer predisposition gene has NOT been identified


Minimum Referral Criteria

  • Category 1
    (appointment within 30 calendar days)
    • A personal history of a brain tumour with a family history of brain tumours and/or other Li-Fraumeni associated cancers
    • Metastatic uveal melanoma in a patient fulfilling Cat 2 criteria
    • BAP1 deficient meningioma
  • Category 2
    (appointment within 90 calendar days)
    • An individual whose referral to GHQ was recommended after review of a relative.
    • Non-metastatic uveal melanoma in a patient with a personal or family history of BAPomas, renal cancer, mesothelioma or meningioma
    • CHRPE (Congenital retinal pigment epithelial hypertrophy)
  • Category 3
    (appointment within 365 calendar days)
    • Retinoblastoma (See Paediatric cancer)
    • Uveal melanoma fulfilling Cat 2 criteria and diagnosed ≥3 years ago
    • Central or peripheral nervous system conditions which may be suggestive of familial cancer predisposition condition including:
      • endolymphatic sac tumour
      • ciliary body medulloepithelioma
      • pituitary blastoma or pineoblastoma
      • retinal angioma diagnosed at age < 40 years
      • CNS haemangioblastoma diagnosed at age < 30yrs
      • two or more retinal angiomas or CNS haemangioblastomas at any age
      • unilateral vestibular schwannoma diagnosed at age < 30 years
      • cranial meningioma diagnosed at age < 20 years
      • multiple meningiomas or meningioma and two or more blood relatives with meningioma
      • schwannoma diagnosed at age < 16 years
      • optic nerve pathway, brain or spinal cord glioma in a patient with a personal or family history suggestive of NF1
      • typical NF2 related retinal hamartoma diagnosed at age < 16 years
      • two NF2-related tumours at any age e.g. meningioma, schwannoma, glioma, neurofibroma, posterior subcapsular lenticular opacities
      • an individual with two or more CNS cavernomas (cerebral cavernous malformations) or one CNS cavernoma and a family history of CNS cavernomas (also see Neurology genetics condition within Genetics CPC)

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
  • For other reason (e.g. rapidly accelerating disease progression)

2. Essential referral information Referral will be returned without this

  • 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 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 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
  • If the patient is being referred for CHRPE, a description of the type or photo from the optometrist/ophthalmologist

4. Request

Last updated: 13 June 2023