Neuroendocrine Neoplasms (NEN) – genetic related syndromes

Neuroendocrine Neoplasms (NEN) – genetic related syndromes

Awareness, Patient Advocacy
Definitions - the differences between Hereditary vs Familial vs Genetic DisordersI wanted to start with these definitions because people may unintentionally use these three terms interchangeably which is sometimes not the correct use of the information being conveyed. However, after studying this subject, I can tell you it is a very complex area and difficult to explain and then understand in a single paragraph.  Even these widely accepted definitions don't make it any more understandable!  The terms ‘hereditary’ and ‘familial’ look like synonyms and are frequently used interchangeably but are two different concepts. ‘Hereditary’ is most commonly used when referring to diseases with a known genetic cause whereas ’Familial’ disorders are those which appear to have a genetic component, affecting more family members than would be expected by chance alone. However,…
Read More
Awareness Post – Neuroendocrine Cancer in children and adolescents

Awareness Post – Neuroendocrine Cancer in children and adolescents

Awareness, Inspiration
September is Childhood Cancer Awareness Month!  The newspapers and social media will no doubt be featuring many children's cancer articles. I personally cannot begin to imagine what it must be like to be a parent who has a child with cancer. I would just hope my child would be placed into the care and safe custody of experienced medical teams and would be able to get access to the best treatments available. In 2020. this case came up in my google alerts and was related to a family who live not far from me in the south of England.  An 8-year-old with Paraganglioma had lost an eye due to the location of the tumour.  It is absolutely heartbreaking to read but it's amazing how resilient children can be.  The Facebook…
Read More
A Spotlight on Lung Neuroendocrine Neoplasms

A Spotlight on Lung Neuroendocrine Neoplasms

Awareness
WHO Classification of Tumours, 5th Edition, Volume 5: Thoracic TumoursThe aim of this spotlight is to provide a summary of the latest information on Lung Neuroendocrine Neoplasms (NEN) including the latest terminology, epidemiology data, and guidelines.   This follows the publication of the Thoracic WHO classification 5th edition (2021): terminology and criteria for neuroendocrine neoplasms (Blue Book).  This book has been anticipated to see if the panel compiling this follows the lead of the Gastroenteropancreatic Neuroendocrine Neoplasms (GEPNEN) editions issued in 2017 (Endocrine) and 2019 (Digestive systems) by removing the antiquated misnomer term ''Carcinoid" in line with the recommendations made by senior NEN doctors in 2020 to have commonality across all blue books. Neuroendocrine neoplasm update: toward universal nomenclature © 2020 Society for Endocrinology 2020, Guido Rindi and Frediano Inzani.I can tell…
Read More
Genome methylation accurately predicts neuroendocrine tumor origin – finding Neuroendocrine Neoplasms of unknown primary

Genome methylation accurately predicts neuroendocrine tumor origin – finding Neuroendocrine Neoplasms of unknown primary

Clinical Trials, Patient Advocacy
It's estimated that around 5-10% of Neuroendocrine Neoplasms (NENs) have an unknown primary - what that means is cancer cells have been found in the body but the place cancer began remains unknown.  I wrote about this issue in more depth in my article "Needle in a haystack" - you can read that here.  In that article, you will note that NET specialists through their knowledge and understanding of the behaviour of these comped tumours, can often drill down and gather various pieces of evidence to help narrow down the primary location. However, this new study would indicate they could have access to a new tool to be able to home in on a particular location.DNA methylation-based profiling is now routinely used in the diagnostic workup of brain tumors but…
Read More
Genetics and Neuroendocrine Tumors

Genetics and Neuroendocrine Tumors

Awareness, Living with Neuroendocrine Cancer, Survivorship
In my article 'Ever wonder what caused your NET', I concluded that currently, the only known scientifically explained causes for NETs were hereditary/genetic in nature.  This is mostly associated with those who have MEN syndromes (yes, they are a syndrome not a type of tumour)[caption id="attachment_13063" align="aligncenter" width="530"] Click to read my MEN article[/caption]There also strong connections with and a few other less common types of NET including Pheochomocytoma/Paraganglioma (Pheo/Para) and Medullary Thyroid Carcinoma (MTC) (the familial version of MTC is often referred to as FMTC). However, please note this does not mean that all those diagnosed with pancreatic, parathyroid, pituarity, Pheo/Para and MTC tumours, will have any hereditary or genetic conditions, many will simply be sporadic tumors.[caption id="attachment_16075" align="aligncenter" width="640"] Click to read my article on Pheochromocytoma and Paraganglioma[/caption]In recent…
Read More
Neuroendocrine Cancer – tumour markers and hormone levels

Neuroendocrine Cancer – tumour markers and hormone levels

Patient Advocacy
BackgroundI think most people have had a form of medical testing at some point in their life, i.e. the sampling and testing of blood, urine, saliva, stool or body tissue. In a nutshell, the medical staff are just measuring the content of a 'substance' and then taking a view whether this is normal or not based on pre-determined ranges. These tests are normally done as a physician's reaction to symptom presentation or maintenance/surveillance of an existing diagnosed condition. Sometimes, abnormal results will lead to more specialist tests.In cancer, these tests are frequently called 'markers'. Most tumour markers are made by normal cells as well as by cancer cells; however, they are produced at much higher levels in cancerous conditions. These substances can be found in the blood, urine, stool, tumour tissue,…
Read More
Neuroendocrine Cancer: Troublesome Thyroids

Neuroendocrine Cancer: Troublesome Thyroids

Awareness, Living with Neuroendocrine Cancer, Survivorship, Treatment
In 2013, just when I thought everything seemed to be under control, I was told I had a 'lesion' on the left upper lobe of my thyroid.  At the time, it was a bit of a shock as I had already been subjected to some radical surgery and wondered if this was just part of the relentless march of metastatic NET disease.  The thyroid gland does in fact get mentioned frequently in NET patient discussions but many of the conversations I monitored didn't seem to fit my scenario - cue relentless study! I've been meaning to write this blog for some time but here is a synopsis of my research translated into 'patient speak'.  This is intentionally brief, it's a big subject.  I'll finish off with an update on where I…
Read More

Neuroendocrine Cancer – it can be ‘smoke and mirrors’

Awareness, Living with Neuroendocrine Cancer
In a previous life, I used the term 'smoke and mirrors' quite a bit.  I was used to dealing with many different types of people, some who wanted something, some who wanted to buy or sell something. Most of the time it was overt but the devil was usually in the detail.  Sometimes there was an element of 'covertness' or a 'hidden agenda'.  It was always tricky working out the details of the hidden agenda and sometimes it was only known when it was too late.  Some of you will already be seeing where I'm going with this line of thinking - if so, you worked out my hidden agenda! 'Smoke and Mirrors' is basically a term connected to the art of deception, a con trick, a way in through confusion and…
Read More
Running in the Family – Multiple Endocrine Neoplasia (MEN)

Running in the Family – Multiple Endocrine Neoplasia (MEN)

Awareness, Living with Neuroendocrine Cancer
This is an overview, if you require detail, try my more comprehensive post by clicking here or on the picture[caption id="attachment_38157" align="aligncenter" width="640"] Click on the picture to read more[/caption]OverviewWe all know that Neuroendocrine Tumours (NETs) and their syndromes are complex but there is even more complexity to be found in a group of related disorders known as Multiple Endocrine Neoplasia (MEN).  I recommend all NET patients should try to understand the basics of MEN and vice versa, particularly as both conditions seem to come with a plethora of endocrine-related effects.MEN patients will normally have a tumour in at least two endocrine glands - thus the terms 'Multiple' and 'Endocrine' (tumours can also develop in other organs and tissues).  Neoplasia is just another name for tumour and these can be non-cancerous (benign) or…
Read More
Grading and Staging – Neuroendocrine Neoplasms (incorporating WHO 2021 changes)

Grading and Staging – Neuroendocrine Neoplasms (incorporating WHO 2021 changes)

Patient Advocacy
One of the most discussed and sometimes confusing subjects on forums is the staging and grading of Neuroendocrine Neoplasms (NENs). Mixing them up is a common error and so it's important to understand the difference despite the apparent complexity. If I was to make a list of questions for my specialist/Oncologist at diagnosis, it would include "What is the stage, grade and differentiation of my cancer". To enable me to synchronise with the documented guidance, I'm going to use the following WHO 2019 approved terms in this post and then provide an update of the key WHO 2019 changes below.Neuroendocrine Neoplasm (NEN) - all types of Neuroendocrine tumour of whatever grade (please note Neoplasm is another word for tumour)Neuroendocrine Tumour (NET) - all well-differentiated tumours, Grade 1,2 or 3 (an…
Read More
The Syndromes of Neuroendocrine Cancer – Early Signs of a Late Diagnosis

The Syndromes of Neuroendocrine Cancer – Early Signs of a Late Diagnosis

Awareness
One of the curious things about Neuroendocrine Cancer (NETs elsewhere in the text) 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 - see more below.This frequently makes Neuroendocrine Cancer very difficult to diagnose quickly.  It's a very devious disease.It's NOT all about Carcinoid Syndrome!Most people think of Carcinoid Syndrome when they discuss NETs. Anyone suggesting that all NET patients get carcinoid syndrome or that all symptoms of NETs are caused by carcinoid…
Read More