Klinische FragestellungMagenkarzinom, hereditär diffus, teils multifaktoriell bedingt; Differentialdiagnose

NGS +

Epitheltumor einer diffusen Siegelringzelle (junges Alter), assoziiert mit heterozygoten Keimbahnmutationen der Gene CDH1, MAP3K6 und CTNNA1. In frühen Stadien unspezifische und vage Symptome, in fortgeschrittenen Stadien ev. Übelkeit + Erbrechen, Dysphagie, Appetitlosigkeit, abdominale Tumormassen oder Gewichtsverlust

• Alias: Familial diffuse cancer of stomach
• Alias: Gastric cancer, hereditary diffuse
• Alias: Hereditary diffuse gastric adenocarcinoma
• Allelic: Adenomas, multiple colorectal (MUTYH)
• Allelic: Adenomatous polyposis coli (APC)
• Allelic: Adrenocortical carcinoma, pediatric (TP53)
• Allelic: Arteriovenous malformation of the brain, somatic (KRAS)
• Allelic: Autism syndrome (PTEN)
• Allelic: Basal cell carcinoma 7 (TP53)
• Allelic: Bladder cancer, somatic (KRAS)
• Allelic: Blepharocheilodontic syndrome 1 (CDH1)
• Allelic: Bone marrow failure syndrome 5 (TP53)
• Allelic: Brain tumor-polyposis syndrome 2 (APC)
• Allelic: Breast cancer, lobular (CDH1)
• Allelic: Breast cancer, male, susceptibility to (BRCA2)
• Allelic: Breast cancer, somatic (KRAS, TP53)
• Allelic: Breast cancer, somatic (TP53)
• Allelic: Breast cancer, susceptibility to (ATM, PALB2)
• Allelic: Breast-ovarian cancer, familial, 2 (BRCA2)
• Allelic: Cardiofaciocutaneous syndrome 2 (KRAS)
• Allelic: Cardiomyopathy, dilated, 1GG (SDHA)
• Allelic: Choroid plexus papilloma (TP53)
• Allelic: Colorectal cancer (TP53)
• Allelic: Colorectal cancer, somatic (APC)
• Allelic: Cowden syndrome 1 (PTEN)
• Allelic: Desmoid disease, hereditary (APC)
• Allelic: Diabetes mellitus, insulin-resistant, with acanthosis nigricans (INSR)
• Allelic: Endometrial carcinoma, somatic (CDH1)
• Allelic: Exudative vitreoretinopathy [MONDO:0019516] (CTNNA1)
• Allelic: Fanconi anemia, complementation group D1 (BRCA2)
• Allelic: Fanconi anemia, complementation group N (PALB2)
• Allelic: Gardner syndrome (APC)
• Allelic: Glioblastoma 3 (BRCA2)
• Allelic: Glioma susceptibility 1 (TP53)
• Allelic: Hepatocellular carcinoma, somatic (TP53)
• Allelic: Hyperinsulinemic hypoglycemia, familial, 5 (INSR)
• Allelic: Interleukin 1 receptor antagonist deficiency (IL1RN)
• Allelic: Leprechaunism (INSR)
• Allelic: Leukemia, acute myeloid, somatic (KRAS)
• Allelic: Lhermitte-Duclos syndrome (PTEN)
• Allelic: Lung cancer, somatic (KRAS)
• Allelic: Lymphoma, B-cell non-Hodgkin, somatic (ATM)
• Allelic: Lymphoma, mantle cell, somatic (ATM)
• Allelic: Macrocephaly
• Allelic: Macular dystrophy, patterned, 2 (CTNNA1)
• Allelic: Mastocytosis, cutaneous (KIT)
• Allelic: Medulloblastoma (BRCA2)
• Allelic: Microvascular complications of diabetes 4 (IL1RN)
• Allelic: Mitochondrial complex II deficiency, nuclear type 1 (SDHA)
• Allelic: Muir-Torre syndrome (MLH1)
• Allelic: Myhre's growth mental deficiency syndrome (SMAD4)
• Allelic: Nasopharyngeal carcinoma, somatic (TP53)
• Allelic: Neurodegeneration with ataxia and late-onset optic atrophy (SDHA)
• Allelic: Noonan syndrome 3 (KRAS)
• Allelic: Oculoectodermal syndrome, somatic (KRAS)
• Allelic: Osteosarcoma (TP53)
• Allelic: Ovarian cancer, somatic (CDH1)
• Allelic: Pancreatic cancer 2 (BRCA2)
• Allelic: Pancreatic cancer, susceptibility to, 3 (PALB2)
• Allelic: Pancreatic carcinoma, somatic (KRAS, TP53)
• Allelic: Paragangliomas 5 (SDHA)
• Allelic: Piebaldism (KIT)
• Allelic: Prostate cancer (BRCA2)
• Allelic: Prostate cancer, susceptibility to (CDH1)
• Allelic: RAS-associated autoimmune leukoproliferative disorder (KRAS)
• Allelic: Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic (KRAS)
• Allelic: T-cell prolymphocytic leukemia, somatic (ATM)
• Allelic: Wilms tumor (BRCA2)
• Ataxia-telangiectasia (ATM)
• Barrett esophagus/esophageal adenocarcinoma (MSR1)
• Gastric adenocarcinoma + proximal polyposis of the stomach (APC)
• Gastric cancer risk after H. pylori infection (IL1B, IL1RN)
• Gastric cancer, hereditary diffuse, with/-out cleft lip and/or palate (CDH1)
• Gastric cancer, somatic (KRAS)
• Gastric cancer, somatic (MUTYH)
• Gastrointestinal stromal tumor, familial (KIT)
• Hereditary Diffuse Gastric Cancer predisposing (CTNNA1)
• Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (SMAD4)
• Li-Fraumeni syndrome (TP53)
• Mismatch repair cancer syndrome 1, 2, 3, 4 (MLH1, MSH2, MSH6, PMS2)
• Pancreatitis, hereditary (PRSS1)
• Peutz-Jeghers syndrome (STK11)
• Polyposis syndrome, hereditary mixed, 2 (BMPR1A)
• Polyposis, juvenile intestinal (BMPR1A)
• Polyposis, juvenile intestinal (SMAD4)
• Rabson-Mendenhall s.: pineal hyperplasia, Insulin-resist. diab. mell., somatic abnormal. (INSR)