IllnessMultiple endocrine neoplasia, MEN; differential diagnosis

NGS +

[Sanger]

Multiple endocrine neoplasia (MEN) syndromes are rare hereditary diseases in which several endocrine glands hyperplasise or develop benign or malignant tumours. Tumours and enlarged glands produce disproportionate amounts of hormones. The clinical symptoms vary greatly depending on which glands are affected. MEN1 causes combinations of over 20 different tumour entities, which can manifest from infancy to the senium. In about 95% of MEN1 cases a genetic predisposition can be identified which is inherited autosomal-dominantly. The age-dependent penetrance for all clinical MEN1 symptoms exceeds 50% from the age of 20 and 95% at 40. 90% of MEN2 mutation carriers (also autosomal-dominantly inherited) develop medullary thyroid carcinomas. An inconspicuous genetic finding does not mean that the clinical suspected diagnosis can be excluded with certainty.

References: https://www.ncbi.nlm.nih.gov/books/NBK1538/

https://www.ncbi.nlm.nih.gov/books/NBK1257/

• Alias: Neoplasie, endokrine multiple, MEN
• Allelic: Acrodysostosis 1, with/-out hormone resistance (PRKAR1A)
• Allelic: Adrenal adenoma, somatic (MEN1)
• Allelic: Adrenocortical carcinoma, pediatric (TP53)
• Allelic: Adrenocortical tumor, somatic (PRKAR1A)
• Allelic: Angiofibroma, somatic (MEN1)
• Allelic: Basal cell carcinoma 7 (TP53)
• Allelic: Breast cancer, somatic (TP53)
• Allelic: Carcinoid tumor of lung (MEN1)
• Allelic: Cardiomyopathy, dilated, 1GG (SDHA)
• Allelic: Central hypoventilation syndrome, congenital (RET)
• Allelic: Choroid plexus papilloma (TP53)
• Allelic: Colorectal cancer (TP53)
• Allelic: Deafness, AR 12 (CDH23)(
• Allelic: Epilepsy idiopathic generalized, susceptibility to, 8 (CASR)
• Allelic: Erythrocytosis, familial, 2 (VHL)
• Allelic: Erythrocytosis, familial, 4 (EPAS1)
• Allelic: Gastrointestinal stromal tumor (SDHB, SDHC)
• Allelic: Glioma susceptibility 1 (TP53)
• Allelic: Hemangioblastoma, cerebellar, somatic (VHL)
• Allelic: Hepatocellular carcinoma, somatic (TP53)
• Allelic: Hirschsprung disease, protection against + susceptibility to, 1 (RET)
• Allelic: Hyperparathyroidism, familial primary (CDC73)
• Allelic: Hyperparathyroidism, neonatal (CASR)
• Allelic: Leigh syndrome (SDHA)
• Allelic: Leukemia, juvenile myelomonocytic (NF1)
• Allelic: Lipoma, somatic (MEN1)
• Allelic: Medullary thyroid carcinoma (RET)
• Allelic: Mitochondrial respiratory chain complex II deficiency (SDHA, SDHD)
• Allelic: Myxoma, intracardiac (PRKAR1A)
• Allelic: Nasopharyngeal carcinoma, somatic (TP53)
• Allelic: Neurofibromatosis, familial spinal (NF1)
• Allelic: Neurofibromatosis, type 1 (NF1)
• Allelic: Neurofibromatosis-Noonan syndrome (NF1)
• Allelic: Osteosarcoma (TP53)
• Allelic: Pancreatic cancer, somatic (TP53)
• Allelic: Parathyroid adenoma with cystic changes (CDC73)
• Allelic: Parathyroid adenoma, somatic (MEN1)
• Allelic: Parathyroid carcinoma (CDC73)
• Allelic: Renal cell carcinoma, somatic (VHL)
• Allelic: Usher syndrome, type 1D (CDH23)
• Allelic: Usher syndrome, type 1D/F digenic (CDH23)
• Allelic: Watson syndrome (NF1)
• Carney complex, type 1 [neoplasias: heart, endocrine, skin, neural myxomas, pigment] (PRKAR1A)
• Familial hyperparathyroidism, multiple endocrine neoplasia 1 [panelapp] (CDKN1A)
• Familial hyperparathyroidism, multiple endocrine neoplasia 1 [panelapp] (CDKN2B)
• Familial hyperparathyroidism, multiple endocrine neoplasia 1 [panelapp] (CDKN2C)
• Hyperparathyroidism 4 (GCM2)
• Hyperparathyroidism-jaw tumor syndrome (CDC73)
• Hypocalcemia, AD (CASR)
• Hypocalcemia, AD, with Bartter syndrome (CASR)
• Hypocalciuric hypercalcemia, type I (CASR)
• Hypoparathyroidism, familial isolated 2 (GCM2)
• Li-Fraumeni syndrome (TP53)
• Multiple endocrine neoplasia 1, Wermer syndrome (MEN1)
• Multiple endocrine neoplasia IIA, Sippel syndrome, + IIB, Wagenmann-Froböse syndrome (RET)
• Multiple endocrine neoplasia, type IV (CDKN1B)
• Paraganglioma and gastric stromal sarcoma (SDHB, SDHC, SDHD)
• Paragangliomas 1, with/-out deafness (SDHD)
• Paragangliomas 2 (SDHAF2)
• Paragangliomas 3 (SDHC)
• Paragangliomas 4 (SDHB)
• Paragangliomas 5 (SDHA)
• Pheochromocytoma (RET, SDHB, SDHD, VHL)
• Pheochromocytoma, susceptibility to (MAX)
• Pheochromocytoma, susceptibility to (TMEM127)
• Pigmented nodular adrenocortical disease, primary, 1 (PRKAR1A)
• Pituitary adenoma 1, multiple types (AIP)
• Pituitary adenoma 2, GH-secreting (GPR101)
• Pituitary adenoma 5, multiple types (CDH23)
• Pituitary adenoma predisposition (AIP)
• Polycythemia-paraganglioma-somatostatinoma syndrome [NCCN guideline] (EPAS1)
• Zollinger-Ellison syndrome (RPRD1A, CDKN1B)
• von Hippel-Lindau syndrome (VHL)