Genetics and Neuroendocrine Tumours

Genetics and Neuroendocrine Tumours

Hereditary genetics.....where to focus In recent years, it has become increasingly apparent that a number of Neuroendocrine tumours arise as a result of germline genetic mutations and are inherited in an autosomal dominant pattern. The number of genes implicated is increasing as research advances and I cannot guarantee this post will contain all of them. Apparently, 5-10% of NETs are estimated to have a hereditary background. Hereditary syndromes associated with these include Multiple Endocrine Neoplasia (MEN), Von Hippel Lindau (VHL), Neurofibromatosis Type 1 (NF1), Tuberous Sclerosis (TS) and others. People who have a genetic condition may present with the tumours…
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Let’s be clear about Neuroendocrine Tumours – it’s a cancer!

Let’s be clear about Neuroendocrine Tumours – it’s a cancer!

Dear Readers Another week and another discussion about 'benign vs malignant' in my group. Let's put that into context and dispel one big myth. I write many blogs but one thing I always emphasise is the heterogenous nature of something called Neuroendocrine Neoplasms. That is a 'catch-all' term for both well differentiated Neuroendocrine Tumours (NET) and poorly differentiated Neuroendocrine Carcinomas (NEC). Notwithstanding the fact that there is a Grade 3 NET nowadays, the former is often described as 'slow-growing or 'indolent' in behaviour and the latter is almost always faster growing and a more aggressive cancer. NEC is also frequently…
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Incidental findings and Incidentalomas – NET or NOT

Incidental findings and Incidentalomas – NET or NOT

During my diagnostics, I presented to my general practitioner as someone with symptoms of iron deficiency anaemia with some weight loss (not a lot but some).  The GP at this point had no alternative but to refer me to secondary care where they had the tools to investigate further - e.g. imaging and endoscopies. The use of laboratory testing and imaging devices are there to not only back up the a doctor's clinical hypotheses but also to test them, i.e. these laboratory tests and imaging checks may lead to others. Differential checks are not misdiagnoses, they are part of the…
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Benign liver lesions and cysts – something or nothing?

Benign liver lesions and cysts – something or nothing?

Background I wanted to focus on two terms "lesion" and "cyst" given these are mentioned all the time in my online patient group, on many occasions by a worried newly diagnosed patient who has just been told (or read before an appointment) this was something found during diagnostic scans.  Sometimes cysts are included in the term "liver lesions". Lesion is defined as "An area of abnormal tissue. A lesion may be benign (non-cancerous) or malignant (cancerous)".  The majority of liver lesions are non-cancerous (benign) and will not be related to Neuroendocrine Cancer, or any cancer. Many lesions are detected during…
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