3.1 Specialist diagnostic work-up

3.1 Specialist diagnostic work-up

The treatment team, after taking a thorough medical history and making a thorough medical examination of the patient, should undertake the following investigations under the guidance of a specialist:

  • complete head and neck examination, including endoscopy
  • structural imaging such as ultrasound, CT, MRI or PET scans to evaluate the primary site, regional lymph nodes and sites of possible distant metastases (scans should ideally be performed prior to biopsy of the primary site to avoid upstaging the cancer because of biopsy-induced oedema) (Roland et al. 2016)
  • biopsy (arranged by a practitioner with appropriate training and current experience) to confirm pathological diagnosis and prognostic markers such as p16, EBV BRAF status where indicated (under local or general anaesthetic if required).

Diagnostic investigations should be performed under the supervision of a member of a head and neck multidisciplinary team and should be conducted within two weeks of the specialist appointment.

There is currently no established role for genetic testing for most head and neck cancers.

Nasopharyngeal carcinoma has a higher incidence in people of Chinese or Southern European background, but there is no genetic test to identify specific individuals at risk.

More than a third (35–40 per cent) of paragangliomas (PG) occur due to an underlying hereditary PG or phaeochromocytoma syndrome. When tissue is available for a pathological examination, PG patients should be screened for an underlying SDH mutation (Hampel et al. 2015), performed by pathology or requested by a familial cancer centre. Genetic testing at a familial cancer centre is also indicated of people with a family history of PG/phaeochromocytoma, young-age onset, multiple PG or rare associated features.

Medicare funds some genetic tests via a Medicare Benefits Schedule (MBS) item number but most are not. Depending on the personal and family history, the relevant state health system may fund public sector genetic testing.

Pre-test counselling and informed consent is required before any genetic testing. In some states the treating team can offer ‘mainstream’ diagnostic genetic testing, after which referral is made to a familial cancer service if a pathogenic gene variant is identified. The familial cancer service can provide risk management advice, facilitate family risk notification and arrange predictive genetic testing for the family.

Visit the Centre for Genetics Education website for basic information about cancer in a family.

Pharmacogenetics describes how individual genetic differences can lead to differences in the way certain medicines interact with the body. These interactions can affect the effectiveness of medications and any side effects. Applying pharmacogenetics to treatment planning may help patients to be prescribed the most appropriate treatment at the optimal dose from the beginning of treatment (NHMRC 2013).