IllnessCowden syndrome, differential diagnosis

NGS +

[Sanger]

Cowden syndrome is a genodermatosis characterised by multiple hamartomas in different tissues and an increased risk of malignant tumours of the breast, thyroid, endometrium, kidney and colon rectum. Disease manifestations usually appear between the second and third decade of life, but can occur at any age. 25% of cases are caused by germ line mutations in the phosphatase and tensin homologue gene (PTEN). Other etiologies include germ line promoter methylation of the KLLN gene (30% of PTEN negative cases), mutations in the SDHB, SDHC or SDHD genes (10% of cases) and mutations in the AKT1 and PIK3CA genes (10% of cases).

Reference: 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)