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When should genetic testing be performed in patients with neuroendocrine tumours?

When should genetic testing be performed in patients with neuroendocrine tumours?
Author Information (click to view)

O'Shea T, Druce M,


O'Shea T, Druce M, (click to view)

O'Shea T, Druce M,

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Reviews in endocrine & metabolic disorders 2017 09 30() doi 10.1007/s11154-017-9430-3

Abstract

Neuroendocrine tumours (NETs) are a heterogenous group of tumours arising from neuroendocrine cells in several sites around the body. They include tumours of the gastroenteropancreatic system, phaeochromocytoma and paraganglioma and medullary thyroid cancer. In recent years, it has become increasingly apparent that a number of these tumours arise as a result of germline genetic mutations and are inherited in an autosomal dominant pattern. The number of genes implicated is increasing rapidly. Identifying which patients are likely to have a germline mutation enables clinicians to counsel patients adequately about their future disease risk, and allows for earlier detection of at-risk patients through family screening. The institution of screening and surveillance programmes may in turn lead to a major shift in presentation patterns for some of these tumours. In this review, we examine the features which may lead a clinician to suspect that a patient may have an inherited cause of a NET and we outline which underlying conditions should be suspected. We also discuss what type of screening may be appropriate in a variety of situations.

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