Childhood Cancer Awareness Month – Neuroendocrine Cancer featuring Elizabeth’s story
September is Childhood Cancer Awareness Month! The newspapers and social media have been featuring many childhood cancer articles. It's known that NENs do occur in childhood, particularly those associated with familial/hereditary syndromes including (but not limited to), Multiple Endocrine Neoplasia (MEN), hereditary Pheochromoctyoma/Paraganglioma (PPGL), familial medullary thyroid carcinoma (FMTC); Von-Hippel Lindau (VHL) syndrome. But I also see young people diagnosed with sporadic (not hereditary) appendiceal Neuroendocrine Tumours (NET), most often incidentially found following appendicitis investigations. There are very rare instances of sporadic findings in regular NENs of varying primary types (including Neuroendocrine Carcinomas (NEC)).I dedicate this post to Elizabeth Rooney…
The Syndromes of Neuroendocrine Cancer – Early Signs of a Late Diagnosis
There are some curious things about Neuroendocrine Cancer (NETs elsewhere in the text on the basis that a hormonal syndrome is extremely rare in Neuroendocrine Carcinoma (NEC)). One of them is that it can very often exhibit one or more vague symptoms collectively known as a 'syndrome'. Syndrome is an apt word to describe these complications as the most general meaning in medical terms is a group of symptoms that together are characteristic of a specific disorder or disease". Having a syndrome can often be the difference between having a 'functional' condition or a non-functional' condition. This frequently makes NET …
A spotlight on duodenal Neuroendocrine Neoplasms (dNENs)
What are Duodenal Neuroendocrine Neoplasms (dNEN)? The duodenum is technically part of the small intestine, and you can find that in most anatomy-based descriptions. One of the research references I used was titled "Somewhere between the pancreas and the small intestine" and in the case of Duodenal NENs (dNENs), I can understand why they adopted that unconventional anatomy description. I suspect they contextually meant that they are not like either of these organs, but they share some similarities. They are not normally treated like small intestine NETs (SI NETs) or pancreatic NETs (pNETs) but they share some relationships, particularly…
Belzutifan for the Treatment of Advanced Pheochromocytoma/Paraganglioma (PPGL), Pancreatic Neuroendocrine Tumor (pNET), or Von Hippel-Lindau (VHL) Disease-Associated Tumors
What is von Hippel-Lindau disease (VHL)?Von Hippel-Lindau disease (VHL) is an autosomal dominant disease that can predispose individuals to multiple neoplasms. Germline pathogenic variants in the VHL gene predispose individuals to specific types of benign tumors, malignant tumors, and cysts in many organ systems. These include central nervous system hemangioblastomas; retinal hemangioblastomas; clear cell renal cell carcinomas and renal cysts; pheochromocytomas, cysts, cystadenomas, and neuroendocrine tumors of the pancreas; endolymphatic sac tumors; and cystadenomas of the epididymis. What is Belzutifan (Welireg)?It is an oral hypoxia-inducible factor-2 alpha (HIF-2α) inhibitor. As an inhibitor of HIF-2α, belzutifan reduces transcription and expression of HIF-2α target genes associated with cellular proliferation, angiogenesis and…
Neuroendocrine Neoplasms (NEN) – genetic related syndromes
Cancer is a genetic disorder. It happens when genes that manage cell activity mutate and create abnormal cells that divide and multiply, eventually disrupting how your body works. Medical researchers estimate 5% to 12% of all cancers are caused by inherited genetic mutations that you can’t control. More frequently, cancer happens as an acquired genetic mutation. Acquired genetic mutations happen over the course of your life. This is a very general description of the close relationships between genetics and cancer but I wanted to focus below on hereditary syndromes and genetic disorders related to Neuroendocrine Neoplasms. Definitions - the differences between Hereditary…