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Presentation: Patient with carcinoma of unknown primary

Genomic testing in carcinoma of unknown primary may have implications for the clinical management of the patient’s current cancer, as well for their family members.

Results: Patient with cancer and no identified constitutional (germline) pathogenic variant

Advice for patients with cancer whose constitutional (germline) genomic testing results are uninformative should be guided not just by their negative result, but also by their personal and family history. The patient and their relatives may still require enhanced cancer screening.

Peutz-Jeghers syndrome

Peutz-Jeghers syndrome is characterised by hamartomatous bowel polyps and mucocutaneous pigmentation, and is associated with an increased risk of a variety of cancers. It is caused by constitutional (germline) pathogenic variants in the serine/threonine kinase 11 (STK11) gene.

Results: Patient with cutaneous melanoma and a somatic (tumour) NTRK rearrangement

The detection of a pathogenic somatic (tumour) NTRK rearrangement in a patient with metastatic cutaneous melanoma may have implications for the clinical management of their cancer.

Presentation: Patient with cutaneous melanoma

Genomic testing in cutaneous melanoma affects clinical management of the current cancer and may affect management of the patient’s future cancer risk and that of their relatives.

Presentation: Patient with uveal melanoma

Genomic testing in uveal melanoma affects clinical management of the current cancer and may affect management of the patient’s future cancer risk and that of their relatives.