Klinische FragestellungNeuroendokrine Tumore/Polyposis, pädiatrisch; Differentialdiagnose

NGS +

Gruppe heterogener Erkrankungen

• Allelic: Cardiomyopathy, dilated, 1GG (SDHA)
• Allelic: Central hypoventilation syndrome, congenital (RET)
• Allelic: Diarrhea 5, with tufting enteropathy, congenital (EPCAM)
• Allelic: Erythrocytosis, familial, 2 (VHL)
• Allelic: Hirschsprung disease, protection against + susceptibility to, 1 (RET)
• Allelic: Mitochondrial complex II deficiency, nuclear type 1 (SDHA)
• Allelic: Mitochondrial complex II deficiency, nuclear type 3 (SDHD)
• Allelic: Mitochondrial complex II deficiency, nuclear type 4 (SDHB)
• Allelic: Myhre syndrome (SMAD4)
• Allelic: Neurodegeneration with ataxia + late-onset optic atrophy (SDHA)
• Adenoma, periampullary, somatic (APC)
• Adenomas, multiple colorectal (MUTYH)
• Adenomatous polyposis coli (APC)
• Adrenal adenoma, somatic (MEN1)
• Angiofibroma, somatic (MEN1)
• Brain tumor-polyposis syndrome 2 (APC)
• Carcinoid tumor of lung (MEN1)
• Colorectal cancer, hereditary nonpolyposis, type 1 (MSH2)
• Colorectal cancer, hereditary nonpolyposis, type 2 (MLH1)
• Colorectal cancer, hereditary nonpolyposis, type 4 (PMS2)
• Colorectal cancer, hereditary nonpolyposis, type 5 (MSH6)
• Colorectal cancer, hereditary nonpolyposis, type 8 (EPCAM)
• Colorectal cancer, somatic (APC)
• Desmoid disease, hereditary (APC)
• Endometrial cancer, familial (MSH6)
• Gardner syndrome (APC)
• Gastric adenocarcinoma + proximal polyposis of the stomach (APC)
• Gastric cancer, somatic (APC)
• Gastric cancer, somatic (MUTYH)
• Gastrointestinal stromal tumor (SDHB, SDHC)
• Hemangioblastoma, cerebellar, somatic (VHL)
• Hepatoblastoma, somatic (APC)
• Hyperparathyroidism, familial primary (CDC73)
• Hyperparathyroidism-jaw tumor syndrome (CDC73)
• Insensitivity to pain, congenital, with anhidrosis (NTRK1)
• Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (SMAD4)
• Lipoma, somatic (MEN1)
• Medullary thyroid carcinoma (RET)
• Melanoma, malignant, somatic (STK11)
• Mismatch repair cancer syndrome 1 (MLH1)
• Mismatch repair cancer syndrome 2 (MSH2)
• Mismatch repair cancer syndrome 3 (MSH6)
• Mismatch repair cancer syndrome 4 (PMS2)
• Muir-Torre syndrome (MLH1, MSH2)
• Multiple endocrine neoplasia 1 (MEN1)
• Multiple endocrine neoplasia IIA (RET)
• Multiple endocrine neoplasia IIB (RET)
• Multiple endocrine neoplasia, type IV (CDKN1B)
• Pancreatic cancer, somatic (SMAD4)
• Pancreatic cancer, somatic (STK11)
• Paraganglioma + gastric stromal sarcoma (SDHB, SDHC, SDHD)
• Paragangliomas 1, with or without deafness (SDHD)
• Paragangliomas 2 (SDHAF2)
• Paragangliomas 3 (SDHC)
• Paragangliomas 4 (SDHB)
• Paragangliomas 5 (SDHA)
• Parathyroid adenoma with cystic changes (CDC73)
• Parathyroid adenoma, somatic (MEN1)
• Parathyroid carcinoma (CDC73)
• Peutz-Jeghers syndrome (STK11)
• Pheochromocytoma (RET, SDHB, SDHD, VHL)
• Pheochromocytoma, susceptibility to (MAX, TMEM127)
• Polyposis syndrome, hereditary mixed, 2 (BMPR1A)
• Polyposis, juvenile intestinal (BMPR1A)
• Polyposis, juvenile intestinal (SMAD4)
• Renal cell carcinoma, somatic (VHL)
• Testicular tumor, somatic (STK11)
• von Hippel-Lindau syndrome (VHL)