Neurofibromatosis type 1 (NF1) Archives

Tag: Neurofibromatosis type 1 (NF1)

This is a genetic condition that affects the skin, the skeleton and the part of the nervous system outside the brain and spinal cord peripheral nervous system). The main signs and symptoms of NF1 include dark coloured spots on the skin (café-au-lait spots), benign growths along the nerves (neurofibromas), and freckles in the underarm and groin. Other symptoms may include coloured spots in the eye (Lisch nodules), curvature of the spine, learning disabilities, and an increased risk for cancer (including Neuroendocrine Cancer). The number of neurofibromas typically increases over time, and some can get large or turn cancerous and need to be removed. The severity and symptoms can vary greatly from person to person. This condition is caused by genetic changes (DNA variants) in the NF1 gene and is inherited in an autosomal dominant pattern.

Also known as Von Recklinghausen’s disease

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)

Genetics and Neuroendocrine Tumors

By Ronny Allan Feb 15, 2025 10 Comments

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

Neuroendocrine Neoplasms (NEN) – genetic related syndromes

By Ronny Allan Nov 24, 2022 0 Comments

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…

Patient AdvocacyAtrophic gastritis, Carcinoid tumour, DNA, Gastric NET, Hereditary cancer syndrome, Incurable cancer, Neuroendocrine cancer, Neuroendocrine tumour (NET), Neurofibromatosis type 1 (NF1), Pernicious anaemia, Pheochromocytoma, Small cell lung cancer (SCLC), Small intestine NET (SI NET), Zollinger-Ellison Syndrome

Ever wonder what caused your Neuroendocrine Cancer?

By Ronny Allan Sep 28, 2017 19 Comments

OPINION. When you're diagnosed, you go through a whole host of emotions. It's not just the initial shock, the disbelief, the anxiety and morbid worry produced by the words "you have cancer", it's other stuff such as anger and denial. With the latter, the denial normally wears off as you finally accept the predicament.In hindsight, the anger is interesting because there can be a mixture of thoughts including "why me", "what could I have done to head this off"; and would you believe I was even angry that my diagnosis was going to affect my performance at work and even…