Endocrine cancer and tumours – referring to genetics

Unilateral phaeochromocytoma with a high risk factor (regardless of age):

• abnormal SDHB and/or SDHA immunohistochemistry OR
• malignant tumours OR
• multifocal tumours OR
• family history of phaeochromocytoma or paraganglioma

• also has one or more paraganglioma OR
• also has renal cancer OR
• another feature of VHL disease (see VHL clinical criteria) OR
• features of neurofibromatosis type 1 (see NF1 clinical criteria)

Parathyroid adenoma/hyperplasia with a high risk factor (regardless of age):

• multi-gland adenoma or hyperplasia (in the absence of chronic renal failure or lithium therapy) OR
• abnormal parafibromin immunohistochemistry OR
• family history of multi-gland parathyroid adenoma/hyperplasia, or GDP-NET, or pituitary adenoma (excluding microprolactinoma in an adult)

Parathyroid adenoma/hyperplasia with other features (regardless of age):

• another feature of MEN1 disease (see MEN1 clinical criteria) OR
• jaw tumours (ossifying fibromas of the mandible or maxilla) (see CDC73 genetic testing)

GDP-NET with a high risk factor:

• diagnosed under the age of 40 years^r OR
• multifocal OR
• family history of GDP-NET, or multi-gland parathyroid adenoma/hyperplasia or pituitary adenoma (excluding microprolactinoma in an adult)

GDP-NET with other features (regardless of age):

• another feature of MEN1 disease (see MEN1 clinical criteria)

First sentence updated to align with the new eviQ cancer genetics referral guidelines template:

• Changed from "All of the people who fall into the categories below warrant a referral to a clinical genetics service or familial cancer centre for assessment." to "Referral to a clinical genetics service or familial cancer centre for assessment should be considered for all people meeting the categories below".

Document reviewed and discussed at October 2019 cancer genetics reference committee meeting. Discussions continued via email and MS Teams. Approved for publication with the following changes made:

• Table 1 - Endocrine cancer or tumour:
  • Row 2: 'UNTESTED Blood relative of a person with a clinical diagnosis of a familial cancer syndrome that predisposes to endocrine cancer (e.g. MEN1, VHL)' added
• Table 3 - Other adrenal tumours:
  • Row 1: 'diagnosed under the age of 40 years' removed
  • Row 2: 'Primary macronodular adrenal hyperplasia (PMAH)' added
  • Row 3: 'Functional adrenal adenoma associated with other features of McCune Albright syndrome' added and link to article with Clinical features of McCune-Albright syndrome
• Table 4 - Parathyroid tumour:
  • Row 2: 'Atypical parathyroid adenoma' added
  • Row 3 - Bullet 1: '(in the absence of chronic renal failure)' changed to '(in the absence of chronic renal failure or lithium therapy)'
  • Row 4 - Bullet 2: 'Jaw cysts' changed to 'Jaw tumours' and link to CDC73 genetic testing added
• Table 5 - GDP-NET (gastroduodenalpancreatic neuroendocrine tumour):
  • GEP-NET (Gastroenteropancreatic neuroendocrine tumour) changed to GDP-NET (gastroduodenalpancreatic neuroendocrine tumour) and through out document
• Table 7 - Thyroid tumour:
  • Row 4: 'Multinodular thyroid disease in childhood OR differentiated thyroid cancer and other features associated with DICER1' added and link to DICER1 genetic testing added
• Table 8 - Multiple endocrine tumours
  • Row 2: 'Two first degree relatives with rare endocrine tumours or family history of multiple endocrine tumours' added
• 'Mutation' changed to 'pathogenic variant' for consistency among eviQ cancer genetics protocols per agreement among the cancer genetics reference committees' chairs. Definition of 'pathogenic variant' added as a pop-up

Version increased to V.6. Review in 2 years.

Presented and discussed at April 19, 2012 reference committee meeting.

Approved for publication.

Following discussion at March 6, 2013 reference committee meeting :

• It was agreed to add the following point under individual characteristics
  • multiple bowel carcinoid tumours < 40 yrs - category yellow.
• Review second yearly.

Document title changed from "Referral guidelines for endocrine cancer risk assessment and consideration of genetic testing" to "Endocrine cancer and tumours - referring to genetics” in accordance with cancer genetics reference committee chairs consensus.

Version increased to V. 5