Carney-Stratakis syndrome (CSS) Archives

15 Feb 2025

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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…

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 …

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…

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