Klinische FragestellungCowden-Syndrom, Differentialdiagnose

NGS +

[Sanger]

Das Cowden-Syndrom ist eine Genodermatose, die durch multiple Hamartome in verschiedenen Geweben und ein erhöhtes Risiko für maligne Mamma-, Schilddrüsen-, Endometrium-, Nieren- und Colon-Rektum-Tumoren charakterisiert ist. Krankheitsmanifestationen erscheinen normalerweise zwischen dem zweiten und dritten Lebensjahrzehnt, können jedoch in jedem Alter auftreten. 25% der Fälle sind durch Keimbahn-Mutationen im Phosphatase und Tensin-Homolog-Gen (PTEN) verursacht. Weitere Ätiologien bestehen in Keimbahn-Promotor-Methylierung des KLLN-Gens (30% der PTEN-negativen Fälle), Mutationen der Gene SDHB, SDHC oder SDHD (10% der Fälle) und Mutationen in den Genen AKT1 und PIK3CA (10% der Fälle).

Referenz: https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=243

• Alias name: Cowden disease 1 (PTEN)
• Alias name: Multiple C; PTEN hamartoma syndrome (PTEN)
• Alias name: Multiple hamartoma syndrome (PTEN)
• Alias: PHTS, PTEN-Hamartom-Tumor-Syndrom (PTEN)
• Allelic: Apparently isolated Lhermitte-Duclos disease (PTEN)
• Allelic: Dyserythropoietic anemia, congenital, type II (SEC23B)
• Allelic: Gastrointestinal stromal tumor (SDHB)
• Allelic: Holoprosencephaly 7 (PTCH1)
• Allelic: Joubert syndrome 32 (SUFU)
• Allelic: Leukemia, juvenile myelomonocytic (NF1)
• Allelic: Macrocephaly, pseudopapilledema, multiple hemangiomata (PTEN)
• Allelic: Macrocephaly/autism syndrome (PTEN)
• Allelic: Medulloblastoma, desmoplastic (SUFU)
• Allelic: Melanoma, malignant, somatic (STK11)
• Allelic: Meningioma, familial, susceptibility to (SUFU)
• Allelic: Myhre syndrome (SMAD4)
• Allelic: Neurofibromatosis, familial spinal (NF1)
• Allelic: Pancreatic cancer, somatic (SMAd4
• Allelic: Pancreatic cancer, somatic (STK11)
• Allelic: Paraganglioma + gastric stromal sarcoma (SDHB)
• Allelic: Paragangliomas 4 (SDHB)
• Allelic: Pheochromocytoma (SDHB)
• Allelic: Pneumothorax, primary spontaneous (FLCN)
• Allelic: Renal carcinoma, chromophobe, somatic (FLCN)
• Allelic: Testicular tumor, somatic (STK11)
• Allelic: Watson syndrome (NF1)
• Bannayan-Riley-Ruvalcaba syndrome, Bannayan-Zonana syndrome (PTEN)
• Basal cell carcinoma, somatic (PTCH1)
• Basal cell nevus syndrome (PTCH1)
• Basal cell nevus syndrome (SUFU)
• Birt-Hogg-Dube syndrome (FLCN)
• Breast cancer, somatic (AKT1)
• Breast cancer, somatic (PIK3CA)
• CLAPO [Lopez-Gutierrez] syndrome, somatic (PIK3CA)
• CLOVE [Cong. Lipomatous Overgrowth, Vascular Malformations, Epid. nevi] syndrome, somatic (PIK3CA)
• Carcinoid tumors, intestinal (SDHD)
• Colorectal cancer, somatic (AKT1)
• Colorectal cancer, somatic (FLCN)
• Colorectal cancer, somatic (PIK3CA)
• Cowden syndrome 1 (PTEN)
• Cowden syndrome 2 (SDHB)
• Cowden syndrome 3 (SDHD)
• Cowden syndrome 4 (KLLN; methylation lost)
• Cowden syndrome 5 (PIK3CA)
• Cowden syndrome 6 (AKT1)
• Cowden syndrome 7 (SEC23B)
• Dysplastic gangliocytoma of cerebellum (PTEN)
• Endometrial carcinoma, somatic (PTEN)
• Gastric cancer, somatic (PIK3CA)
• Gastrointestinal stromal tumor (SDHC)
• Hepatocellular carcinoma, somatic (PIK3CA)
• Juvenile polyposis of infancy, germline deletion (BMPR1A + PTEN)
• Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (SMAD4)
• Keratosis, seborrheic, somatic (PIK3CA)
• Macrodactyly, somatic (PIK3CA)
• Malignant melanoma, somatic (PTEN)
• Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic (PIK3CA)
• Merkel cell carcinoma, somatic (SDHD)
• Neurofibromatosis, type 1 (NF1)
• Neurofibromatosis-Noonan syndrome (NF1)
• Nevus, epidermal, somatic (PIK3CA)
• Nonsmall cell lung cancer, somatic (PIK3CA)
• Ovarian cancer, somatic (AKT1)
• Ovarian cancer, somatic (PIK3CA)
• Paraganglioma + gastric stromal sarcoma (SDHC)
• Paraganglioma + gastric stromal sarcoma (SDHD)
• Paragangliomas 1, with/-out deafness (SDHD)
• Paragangliomas 3 (SDHC)
• Peutz-Jeghers syndrome (STK11)
• Pheochromocytoma (SDHD)
• Polyposis syndrome, hereditary mixed, 2 (BMPR1A)
• Polyposis, juvenile intestinal (BMPR1A)
• Polyposis, juvenile intestinal (SMAD4)
• Prostate cancer, somatic (PTEN)
• Proteus syndrome, somatic (AKT1)
• Riley-Smith syndrome (PTEN)
• Ruvalcaba-Myhre-Smith syndrome (PTEN)
• Squamous cell carcinoma, head and neck, somatic (PTEN)
• Thyroid carcinoma, follicular, somatic (PTEN)