Klinische FragestellungMultiple endokrine Neoplasie, MEN; Differentialdiagnose

NGS +

[Sanger]

Multiple endokrine Neoplasie (MEN) Syndrome sind seltene erbliche Erkrankungen, bei denen mehrere endokrine Drüsen hyperplasieren bzw. gutartige oder maligne Tumore entwickeln. Tumore und vergrößerte Drüsen produzieren unverhältnismäßig viel Hormone. Die klinischen Symptome variieren stark je nachdem, welche Drüsen betroffen sind. MEN1 verursacht Kombinationen von über 20 verschiedenen Tumorentitäten, die vom Kleinkindalter bis ins Senium manifestieren können. In ca. 95% der MEN1-Fälle kann eine genetische Prädisposition identifiziert werden, die autosomal-dominant vererbt wird. Die altersabhängige Penetranz für alle klinischen MEN1-Symptome übersteigt 50% ab dem 20. Lebensjahr und 95% mit 40 Jahren. 90% der MEN2-Mutationsträger (ebenfalls autosomal-dominante Vererbung) entwickeln medulläre Schilddrüsen-Karzinome. Ein unauffälliger genetischer Befund bedeutet keinen sicheren Ausschluss der klinischen Verdachtsdiagnose.

Referenzen: 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)