Genetic Endocrine Tumour Syndromes

Specific conditions

Multiple Endocrine Neoplasia Type 1

Orpha code: 652

Multiple endocrine neoplasia Type 1 (MEN1) is characterised by the development of neuroendocrine tumors of the parathyroid, pancreas, and anterior pituitary gland, and less commonly the adrenal cortical gland, with other non-endocrine tumors in some patients. In individuals with MEN1, tumors can develop at any age and 95% of patients develop clinical symptoms by the 5th decade. Parathyroid tumors causing hyperparathyroidism occur mostly commonly, and are often the first clinical manifestation of the condition.

Multiple Endocrine Neoplasia Type 2

Orpha code: 653

Multiple endocrine neoplasia type 2 (MEN2) is characterised by the occurrence of medullary thyroid carcinoma, pheochromocytoma and, in one variant, primary hyperparathyroidism.The clinical manifestations of MEN2 are related to the syndrome subtypes and depend on the specific mutation in the RET gene. MEN2 can affect all age groups, with manifestations beginning in infancy to early childhood (MEN2B) or adulthood

Carney Complex

Orpha code: 1359

Carney complex (CNC) is characterised by spotty skin pigmentation, endocrine overactivity and myxomas.Skin pigmentation anomalies include lentigines and blue nevi. The most common endocrine gland manifestations are acromegaly, thyroid and testicular tumors, and adrenocorticotropic hormone (ACTH)-independent Cushing’s syndrome due to primary pigmented nodular adrenocortical disease. Myxomas can be observed in the heart, skin and breast. Cardiac myxomas can develop in any cardiac chamber and may be multiple.

Hereditary pheochromocytoma-paraganglioma

Orpha code: 29072

Hereditary paraganglioma-pheochromocytomas (PGL/PCC) are rare neuroendocrine tumors represented by paragangliomas (occurring in any paraganglia from the skull base to the pelvic floor) and pheochromocytomas. PGL can be either hypersecreting (catecholamines) or non-secreting and PCCs usually secrete catecholamines. Secreting (sympathetic) PGLs are predominantly found in the thoracic, abdominal and pelvic areas. Hypersecretion manifests as sustained or paroxysmal elevations in blood pressure, headache, episodic profuse sweating, palpitations, pallor and apprehension or anxiety.

Von Hippel Lindau Syndrome

Orpha code: 892

Von Hippel-Lindau disease (VHL) is a familial cancer predisposition syndrome associated with a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), and pheochromocytoma. Retinal hemangioblastomas are the most common presenting feature. They are usually asymptomatic, but they can cause retinal detachment, macular edema, glaucoma, and vision loss. They are most often located in the cerebellum, but also in the brainstem and spinal cord. They are benign but cause symptoms by compressing adjacent nervous tissue. In the cerebellum they are most often associated with increased intracranial pressure, headaches, vomiting, and limb or truncal ataxia.

Information video for patients and healthcare professionals

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