"Cowden syndrome"

Impaired social cognition and fine dexterity in patients with Cowden syndrome associated with germline PTEN variants. Cowden syndrome (CS) is an autosomal dominant disease related to germline variants and is characterised by multiple hamartomas, increased risk of cancers and frequent brain alteration. Since the behaviour of patients with CS sometimes appears to be inappropriate, we analysed

Identification of c.104T > G, p.Met35Arg (NM_00314.8) variant in heterozygosity in exon 2 of the PTEN gene as the Causative Factor for Cowden Syndrome: A Medical Case Study. Cowden syndrome (CS) is a genodermatosis caused by autosomal dominant pattern mutations in the tumor suppressor gene PTEN. It is part of the PTEN spectrum, which includes Bannayan-Riley-Ruvalcaba syndrome, Lhermitte-Duclos

Revised Danish guidelines for the cancer surveillance of patients with Cowden Syndrome Cowden syndrome is a cancer predisposition syndrome caused by pathogenic variants in PTEN. The affected patients possess an increased risk of breast, thyroid, renal, colorectal, endometrial cancers as well as malignant melanoma. Thus prophylactic surveillance and follow up is crucial for these patients . A review of the literature including existing guidelines from the years 1996 until 2017 was carried out. In total, 2078 scientific papers were identified through database searches on Cowden syndrome. Among these, 11 manuscripts were included based on scientific relevance and quality. Expert consensus was reached to define management guidelines. The literature revealed a high risk of cancer in specific

Lhermitte-Duclos disease (dysplastic cerebellar gangliocytoma) in the setting of cowden syndrome: a case report and literature review on COLD syndrome. Lhermitte-Duclos Disease is a rare clinical entity involving a dysplastic lesion of the cerebellum. The dysplastic cerebellar ganglioblastoma is often seen in association with Cowden Syndrome, an autosomal dominant disorder consisting are presented, along with the clinical features associated with Cowden Syndrome. This patient ultimately underwent surgical intervention for symptomatic relief, which is described here.

Oncogenetic testing and follow-up for women with familial breast/ovarian cancer, LiFraumeni syndrome and Cowden syndrome Oncogenetic testing and follow-up for women with familial breast/ovarian cancer, LiFraumeni syndrome and Cowden syndrome ..

Oncogenetic testing and follow-up for women with familial breast/ovarian cancer, Li Fraumeni syndrome and Cowden syndrome 2015 www.kce.fgov.be KCE REPORT 236 ONCOGENETIC TESTING AND FOLLOW-UP FOR WOMEN WITH FAMILIAL BREAST/OVARIAN CANCER, LI-FRAUMENI SYNDROME AND COWDEN SYNDROME 2015 www.kce.fgov.be KCE REPORT 236 GOOD CLINICAL PRACTICE ONCOGENETIC

Impaired social cognition and fine dexterity in patients with Cowden syndrome associated with germline PTEN variants Impaired social cognition and fine dexterity in patients with Cowden syndrome associated with germline PTEN variants - JMG Contact blog Skip to content * Home * JournalImpaired social cognition and fine dexterity in patients with Cowden syndrome associated with germline PTEN

Distinct Alterations in Tricarboxylic Acid Cycle Metabolites Associate with Cancer and Autism Phenotypes in Cowden Syndrome and Bannayan-Riley-Ruvalcaba Syndrome. Germline heterozygous PTEN mutations cause subsets of Cowden syndrome (CS) and Bannayan-Riley-Ruvalcaba syndrome (BRRS); these subsets are characterized by high risks of breast, thyroid, and other cancers and, in one subset, autism

A Pilot Study of Sirolimus in Subjects with Cowden Syndrome or Other Syndromes Characterized by Germline Mutations in PTEN. This is the first human interventional study in patients with Cowden syndrome that is driven by inactivation of germline gene.Single-agent sirolimus, a mTOR inhibitor, suppressed mTOR signaling in surrogate human tissues without significant toxicity. Cowden syndrome is characterized by inactivating germline mutations, which can lead to activation of the PI3K-Akt-mTOR pathway. Adult subjects with germline mutation who met international diagnostic criteria for Cowden syndrome and who had Eastern Cooperative Oncology Group (ECOG) performance status 0-2 and adequate organ function were enrolled. Subjects were treated with a 56-day course of daily oral sirolimus. In addition

Metachronous ovarian endometrioid carcinomas in a patient with a PTEN variant: case report of incidentally detected Cowden syndrome. Somatic PTEN mutation occurs in a proportion of ovarian endometrioid carcinomas. However, these cancers have seldom been reported in diseases associated with germline PTEN variants, such as Cowden syndrome (CS). The present case was a 39-year-old woman with a left

Ovarian Clear Cell Carcinoma in Cowden Syndrome. Cowden syndrome (CS) is an autosomal dominant mendelian disease related to germline pathogenic variants affecting the -gene. CS is characterized by macrocephaly, mucocutaneous lesions, and an increased risk of breast and thyroid cancers. Rare ovarian cancer cases (mostly embryonic tumors) associated with have been described in the literature

Tumor-induced osteomalacia in association with PTEN-negative Cowden syndrome. Tumor-induced osteomalacia (TIO) is a rare paraneoplastic condition in which phosphaturic mesenchymal tumors (PMTs) secrete high levels of fibroblast growth factor 23 (FGF23) into the circulation. This results in renal phosphate wasting, hypophosphatemia, muscle weakness, bone pain, and pathological fractures. Recent studies suggest that fibronectin-fibroblast growth factor receptor 1 (FN1-FGFR1) translocations may be a driver of tumorigenesis. We present a patient with TIO who also exhibited clinical findings suggestive of Cowden syndrome (CS), a rare autosomal dominant disorder characterized by numerous benign hamartomas, as well as an increased risk for multiple malignancies, such as thyroid cancer. While CS

Early Onset Multiple Primary Tumors in Atypical Presentation of Cowden Syndrome Identified by Whole-Exome-Sequencing A family with an aggregation of rare early onset multiple primary tumors has been managed in our oncogenetics department: the proband developed four early onset carcinomas between ages 31 and 33 years, including acral melanoma, bilateral clear cell renal carcinoma (RC mutations in the gene are associated with melanoma invasion, and could explain the occurrence of melanoma in the proband. Cowden syndrome is a hereditary autosomal dominant disorder associated with increased risk of muco-cutaneous features, hamartomatous tumors, and cancer. This atypical presentation, including absence of muco-cutaneous lesions, four primary early onset tumors and bilateral clear cell RC

Spinal Extradural Arteriovenous Fistula with Cowden Syndrome: A Case Report and Literature Review Regarding Pathogenesis and Therapeutic Strategy We report the case of a patient with a spinal extradural arteriovenous fistula (AVF) associated with Cowden syndrome (CS) that was successfully treated by endovascular surgery. CS is an autosomal dominant disorder associated with diverse symptoms

Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations Patients with heritable cancer syndromes characterized by germline PTEN mutations (termed PTEN hamartoma tumor syndrome, PHTS) benefit from PTEN-enabled cancer risk assessment and clinical management. PTEN-wildtype patients (~50%) remain

Novel Germline PTEN Mutation Associated with Cowden Syndrome and Osteosarcoma Cowden syndrome (CS) is a rare autosomal-dominant inherited disorder characterized by multiple hamartomas. While the hamartomas are benign, patients with CS have increased risk of osteosarcoma and of breast, thyroid, endometrial, soft-tissue and colonic neoplasms. Germline mutations of phosphatase and tensin homolog

Insertion of Alu elements at a PTEN hotspot in Cowden syndrome. Cowden syndrome (CS) is an inherited autosomal dominant disorder associated with germline pathogenic variants of the PTEN tumor suppressor gene. Its phenotypical expression is highly variable and the existence of patients with a CS suggestive phenotype without pathogenic PTEN variant may be related to genetic heterogeneity. In order

Fibroblastic Polyps: A Novel Polyp Subtype in Cowden Syndrome Cowden syndrome (CS) represents one possible phenotype of the gene mutation, and it can cause hamartomas throughout the gastrointestinal tract, with a predisposition for malignancy. Fibroblastic polyps have not been associated with CS. A 45-year-old woman with CS presenting for colonoscopic surveillance was found to have multiple

Cowden Syndrome with a Novel PTEN Mutation Presenting with Partial Epilepsy Related to Focal Cortical Dysplasia Cowden syndrome is a rare autosomal dominant disorder characterized by multiple hamartomas of the ectoderm and brain. A 36-year-old Japanese man presented with right facial seizure during sleep and was admitted to our hospital. He showed cobblestoning over the tongue and palmar pitting but no neurological abnormalities while he was not having a seizure. Brain magnetic resonance imaging showed focal cortical dysplasia in the left frontal lobe. Electroencephalography showed sharp waves over the left frontal lesion. A genetic analysis revealed a novel mutation of PTEN. The administration of carbamazepine ended the seizures. This is the first Japanese case of Cowden syndrome with a novel PTEN gene

Hereditary breast cancer associated with Cowden syndrome-related PTEN mutation with Lhermitte-Duclos disease Cowden syndrome is characterized by multiple hamartomas in various tissues, including the skin, brain, breast, thyroid, mucous membrane, and gastrointestinal tract, and is reported to increase the risk of malignant disease. We describe the case of a 52-year-old woman in whom a tumor was diagnosed in the left cerebellar hemisphere and treated by surgical resection. Phosphatase and tensin homolog (PTEN) mutation in exon 8 insertion was found in the brain tumor tissue and leukocytes. This finding supported the diagnosis of Cowden syndrome. She consequently developed endometrial cancer and underwent abdominal total hysterectomy with bilateral salpingo-oophorectomy. Four years later, hormone