A rare disease for a day: Neuroendocrine tumor

In honor of rare disease day, I am using my Monday-Friday posts to raise awareness of some of the rare diseases as brief posts. Following on from past installments of “A rare disease a day” Hunter syndrome, Gaucher disease, Tay-Sachs, Morquio syndrome, Fabry disease, Sanfilippo syndrome, Krabbe Disease, Niemann-Pick Disease, Batten disease , Hurler Syndrome, Charcot-Marie-Tooth, Fibromuscular dysplasia, Huntington’s disease,  Giant Axonal Neuropathy (GAN).and today is the turn of Neuroendocrine tumor. 

Neuroendocrine tumors (NETs) arise from cells of the endocrine (hormonal) and nervous systems. They most commonly occur in the intestine, (also known as carcinoid tumors), but can also found in the lung and elsewhere in the body. The annual incidence of neuroendocrine tumors is approximately 2.5-5 per 100,000 and the prevalence has been estimated as 35 per 100,000. There are many kinds of NETs which are grouped together because they look similar, have special secretory granules, and may often produce biogenic amines and polypeptide hormones.

These tumors are categorized by their WHO classification and anatomic distribution.

1. well-differentiated neuroendocrine tumours, further subdivided into tumors with benign and those with uncertain behavior

2. well-differentiated (low grade) neuroendocrine carcinomas with low-grade malignant behavior

3. poorly differentiated (high grade) neuroendocrine carcinomas, which are the large cell neuroendocrine and small cell carcinomas.

Symptoms of Carcinoid tumors are: flushing, diarrhea, asthma or wheezing, congestive heart failure (CHF),abdominal cramping, peripheral edema, heart palpitations.

Symptoms of Pancreatic neuroendocrine tumors include: peptic ulcers, diarrhea, hypoglycemia, a rash, sore mouth, altered bowel habits, venous thrombosis, dehydration, hypokalemia,  achlorhydria, cholelithiasis.

There are many markers of the disease aside from the hormones of secretory tumors. Several different genes have also been found to be mutated in Pancreatic neuroendocrine tumors and neuroendocrine tumors can be seen in familial syndromes e.g. Von Hippel Lindau disease. and tuberous sclerosis.

Some tumors can be treated by surgery and chemotherapy. Pancreatic endocrine tumors can be treated with everolimus and sunitinib.

Experimental therapies include oncolytic viruses, e.g. Tat-PTD-modified oncolytic viruses was used to treat mice harboring human neuroblastoma and neuroendocrine tumors and showed suppressed tumor growth and prolonged survival. This work formed the basis of a large crowdfunding effort to raise 2 million pounds for clinical studies in humans.

New cell lines for neuroendocrine carcinoma were recently described which might be useful for future drug discovery efforts.

Useful resources include the Carcinoid Cancer Foundation, Net Patient Foundation and Caring for Carcinoid Foundation which funds research into the disease.

This also represents the last of the rare diseases highlighted in the ODDT app. If there are other rare diseases that would be useful to include please let me know.

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