Familial medullary thyroid cancer (FMTC) Archives

Tag: Familial medullary thyroid cancer (FMTC)

Medullary thyroid cancer is a rare form of thyroid cancer. The term medullary describes the type of cells in the thyroid gland affected by the cancer. The majority of patients with medullary thyroid cancer (approximately 80%) have no family history of the condition; the remaining 20% of patients inherit the condition from a parent (thus the disease is ‘familial’). Familial medullary thyroid cancer is inherited in a dominant way, which means a patient with the gene mutation for medullary thyroid cancer will have a 50% chance of passing it on to their offspring.

The inherited form of medullary thyroid cancer is associated with three conditions: familial medullary thyroid cancer, multiple endocrine neoplasia type 2A (MEN2A) and multiple endocrine neoplasia type 2B (MEN2B). Both multiple endocrine neoplasia (MEN) syndromes are characterised by the presence of other diseases in addition to medullary thyroid cancer.

Familial medullary thyroid cancer is caused by a mutation in a gene called “Rearranged during Transfection” (RET) proto-oncogene.

15 Feb 2025

By Ronny Allan

10 Comments

Genetics and Neuroendocrine Tumours

Awareness, Living with Neuroendocrine Cancer, SurvivorshipAutosomal dominant, Benign, Carney-Stratakis syndrome (CSS), Chromaffin cells, Familial medullary thyroid cancer (FMTC), Familial NET, Gastro-entero-pancreatic neuroendocrine tumour (GEP-NET), Genetic testing, Genetics, Germline genetic mutations, Hereditary cancer syndrome, Hormones, Incurable cancer, Lung NETs, Malignant, MEN1 syndrome, Metastatic Neuroendocrine Cancer, Multiple Endocrine Neoplasia (MEN), Neuroendocrine, Neuroendocrine cancer, Neuroendocrine carcinoma (NEC), Neuroendocrine tumour (NET), Neurofibromatosis type 1 (NF1), Paraganglioma, Pheochromocytoma, Pituitary NET (PitNET), Quality of LIfe (QoL), Tuberous sclerosis (TSC)

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…

21 Nov 2024

By Ronny Allan

6 Comments

A spotlight on Multiple Endocrine Neoplasia (MEN)

Awareness, Living with Neuroendocrine CancerCDKN1B, Endocrine, Familial medullary thyroid cancer (FMTC), Genetics, Hereditary cancer syndrome, MEN1 syndrome, MEN2 syndrome, MEN2A syndrome, MEN2B syndrome, MEN4 syndrome, MEN5 syndrome, MENX, Multiple Endocrine Neoplasia (MEN), Neuroendocrine, Paraganglioma, Parathyroid gland, Pheochromocytoma, Pituitary gland

First published 2015, updated for 2025. Overview We 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…

19 Sep 2024

By Ronny Allan

5 Comments

Childhood Cancer Awareness Month – Neuroendocrine Cancer featuring Elizabeth’s story

GeneralAppendiceal NET, Familial medullary thyroid cancer (FMTC), Hereditary pheochromocytoma/paraganglioma syndromes, MEN1 syndrome, MEN2 syndrome, MEN2A syndrome, MEN2B syndrome, Neuroendocrine cancer, Paraganglioma, Pheochromocytoma, Von Hippel-Lindau (VHL) Syndrome

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…

14 Jun 2024

By Ronny Allan

16 Comments

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

A spotlight on NENs - Syndromes, Awareness5-HIAA, Achlorhydria, Adrenocorticotropic Hormone (ACTH), Alcohol, Angioma, Carcinoid crisis, Carcinoid heart disease, Carcinoid syndrome, Carcinoid tumour, Carney-Stratakis syndrome (CSS), Cerebellum, Cushing's disease, Cushing's syndrome, Dermatitis, Diet, Familial medullary thyroid cancer (FMTC), Fat malabsorption, Functional tumour, Gastrinoma, Glucagon, Glucagonoma, Haemangioblastoma, Hedinger syndrome, Hereditary pheochromocytoma/paraganglioma syndromes, Hypercalcemia, Hypercortisolism, Hypokalemia, Insulinoma, Medullary thyroid cancer (MTC), MEN1 syndrome, MEN2 syndrome, MEN2A syndrome, MEN2B syndrome, NET syndromes, Neuroendocrine cancer, Non-functional tumour, Paraganglioma, Paraneoplastic syndromes, Pheochromocytoma, Pituitary gland, PPoma, SDHA, SDHAF2, SDHB, SDHC, Somatostatin analogues, Somatostatinoma, Surgery, Sweet's syndrome, The 5 E's, Verner-Morrison syndrome, VIPoma, Von Hippel-Lindau (VHL) Syndrome, Von Recklinghausen's disease, Wermer syndrome, Whipple's triad

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 …

09 Oct 2023

By Ronny Allan

7 Comments

Neuroendocrine Cancer: Troublesome Thyroids (Updated 2026 Edition)

Awareness, Living with Neuroendocrine Cancer, Survivorship, TreatmentAnaplastic, Axillary nodes, Calcitonin, Calcium, Core Biopsy, Familial medullary thyroid cancer (FMTC), Fine needle aspiration (FNA), Follicular cell, Ga68 PET/CT, Graves’ disease, Hashimoto's disease, Hurthle cell neoplasm, Hyperthryroidism, Hypothyroidism, Levothyroxine, Medullary thyroid cancer (MTC), MEN1 syndrome, Multiple Endocrine Neoplasia (MEN), Overactive thyroid, Papillary thyroid cancer, Parathyroid gland, SCF node, Supraclavicularfossa, Thyroid, Thyroid cancer, Thyroid stimulating hormone (TSH), Thyroxine (T4), Triiodothyronine (T3), Underactive thyroid

Thyroid information disclaimerThis content is for general education and reassurance only. It is not a substitute for personalised medical advice, diagnosis, or treatment. Thyroid nodules, thyroid function tests, cytology categories (Bethesda/THY), and molecular tests (such as ThyroSeq, Afirma, or ThyroidPrint) all require interpretation by qualified clinicians who know your full medical history, imaging, pathology, and symptoms. Thyroid disease is common and highly individual. Most nodules are benign, and many thyroid abnormalities are incidental findings — especially in people who undergo frequent imaging. Decisions about biopsy, molecular testing, surgery, or surveillance should always be made with your endocrinologist, surgeon, or multidisciplinary…

24 Nov 2022

By Ronny Allan

0 Comments

Neuroendocrine Neoplasms (NEN) – genetic related syndromes

Awareness, Patient AdvocacyCarney-Stratakis syndrome (CSS), Familial medullary thyroid cancer (FMTC), Genetics, Hereditary pheochromocytoma/paraganglioma syndromes, Medullary thyroid cancer (MTC), MEN1 syndrome, MEN2 syndrome, MEN2A syndrome, MEN2B syndrome, MEN4 syndrome, Neurofibromatosis type 1 (NF1), Paraganglioma, Pheochromocytoma, Tuberous sclerosis (TSC), Von Hippel-Lindau (VHL) Syndrome

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…