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Klinische FragestellungMagenkarzinom, hereditär diffus, teils multifaktoriell bedingt; Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel zur Mutationssuche bei hereditären diffusen + multifaktoriell bedingten Magenkarzinomen mit 2 Leitlinien-kuratierten "core"-Genen, 11 weiteren Leitlinien-erwähnten Genen sowie insgesamt 22 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
MP0030
Anzahl Gene
18 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
12,3 kb (Core-/Core-canditate-Gene)
57,3 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
CDH12649AD
CTNNA12721Sus
IL1B810Sus
IL1RN543Sus
KIT2931AD
KRAS567AD, Sus
SDHA1995AD, Sus
APC8532AD, Sus
ATM9171AR
BRCA210257n.k.
MLH12271AD, AR
MSH22805AD, AR
MSH64083AD, AR
MUTYH1650AR, Sus
PMS22589AR, Sus
PTEN1212AD, Sus
STK111302AD, Sus
TP531182AD, Sus

Infos zur Erkrankung

Klinischer Kommentar

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

 

Synonyme
  • 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)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AR
  • Sus
  • n.k.
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
C16.-

Bioinformatik und klinische Interpretation

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