FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W85382965> ?p ?o ?g. }

• W85382965 endingPage "208" @default.
• W85382965 startingPage "203" @default.
• W85382965 abstract "Summary: A vestibular schwannoma in a patient with Birt-Hogg-Dube syndrome: Birt-Hogg Dube syndrome is an autosomal dominant disease with variable clinical expression. It is characterized by cutaneous manifestations, renal tumors and lung cysts. Other tumors, such as adrenal tumors and tumors originating from the neural crest cells such as meningioma and neurothekeoma have also been described. This syndrome is caused by germline mutations in the folliculin (FLCN) gene located on chromosome I 7p. We report, for the first time, a patient with BHDS and a history of a vestibular schwannoma in adolescence. The diagnosis of BHDS was confirmed, by identifying a nonsense mutation in exon 10 of the FLCN gene. A vestibular schwannoma also originates from neural crest cells, just as other neural tumors, previously encountered in patients with BHDS.The reported mutations cause a truncation of the protein, folliculin. The exact role of folliculin is still undetermined. Two different theories suggest the effect of tumorigenesis. One is that folliculin plays an important role in the AMPK-mTOR pathway which leads to proliferation of cells when activated. The other is that the folliculin acts as a possible tumor suppressor gene, since there is a high frequency of second hits in the FLCN-gene.In order to confirm a possible relation of BHDS and neural crest tumors, further research is necessary in the tumorigenesis of the folliculin gene.Key-words: Birt-Hogg Dube syndrome - Folliculin gene - Acoustic neuroma - Vestibular schwannoma - Neural crest cell tumor.INTRODUCTIONThe clinical characteristics of Birt-Hogg Dube Syndrome (BHDS) include cutaneous manifestations, lung cysts and renal tumors. The cutaneous manifestations usually present as fibrofolliculomas, trichodiscomas, perifollicular fibromas or acrochordons. These lesions usually appear between the age of 30 and 40. The pulmonary cysts are responsible for a 50-fold increased risk for spontaneous pneumothorax. The most life-threatening manifestations of BHDS are the renal tumors, which are usually bilateral and multifocal. BHDS can also be associated with other benign and malign tumors (2).BHDS is an autosomal dominant disease with variable clinical expression (2). The syndrome is caused by germline mutations in the FLCN (folliculin) gene, located on chromosome 17pl 1.2. This gene codes for folliculin, a protein of which the function is still unknown. It is the only known gene associated with BHDS. (8,10)A vestibular schwannoma or acoustic neuroma is a benign intracranial tumor originating from the Schwann cells of the vestibular section of the vestibulocochlear nerve. The tumor is usually slow growing with symptoms such as hearing loss, vertigo and tinnitus. Neurofibromatosis type 2 presents typically with bilateral vestibular schwannomas and involves chromosome 22, a mutation in a tumor suppressor gene. Patients with neurofibromatosis type 2 may also develop schwannomas of other cranial and peripheral nerves, meningiomas, and, rarely, ependymomas and astrocytomas. Posterior subcapsular lens opacities are the most common ocular findings.For the first time, we report a female patient with BHDS who developed a vestibular schwannoma in adolescence.CLINICAL CASEA 36-year old woman presented with small skin-colored, dome-shaped papules distributed over her face, neck and upper trunk from the age of 10. These papules were histologically proven to be fibrofolliculomas. The diagnosis of BHDS was considered, so she was referred to our clinic for genetic counseling.Medical history revealed a unilateral vestibular schwannoma at the age of 15, which was treated with radiotherapy and caused complete deafness of the right ear. This remains in a stable rest situation on MR1 ever since. She also had a unilateral adrenalectomy for an adenoma of the adrenal gland.The patient has 2 older siblings which were both in good health, though she mentions one sister with the same, but less extensive, dome-shaped papules in her neck. …" @default.
• W85382965 created "2016-06-24" @default.
• W85382965 creator A5006742437 @default.
• W85382965 creator A5019823910 @default.
• W85382965 creator A5072284095 @default.
• W85382965 creator A5081701412 @default.
• W85382965 date "2014-01-01" @default.
• W85382965 modified "2023-09-27" @default.
• W85382965 title "A Vestibular Schwannoma in a Patient with Birt-Hogg-Dube Syndrome" @default.
• W85382965 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/25059020" @default.
• W85382965 hasPublicationYear "2014" @default.
• W85382965 type Work @default.
• W85382965 sameAs 85382965 @default.
• W85382965 citedByCount "0" @default.
• W85382965 crossrefType "journal-article" @default.
• W85382965 hasAuthorship W85382965A5006742437 @default.
• W85382965 hasAuthorship W85382965A5019823910 @default.
• W85382965 hasAuthorship W85382965A5072284095 @default.
• W85382965 hasAuthorship W85382965A5081701412 @default.
• W85382965 hasConcept C104317684 @default.
• W85382965 hasConcept C105702510 @default.
• W85382965 hasConcept C142724271 @default.
• W85382965 hasConcept C2777055284 @default.
• W85382965 hasConcept C2778329176 @default.
• W85382965 hasConcept C2781447767 @default.
• W85382965 hasConcept C502942594 @default.
• W85382965 hasConcept C54355233 @default.
• W85382965 hasConcept C71924100 @default.
• W85382965 hasConcept C86803240 @default.
• W85382965 hasConcept C97329493 @default.
• W85382965 hasConceptScore W85382965C104317684 @default.
• W85382965 hasConceptScore W85382965C105702510 @default.
• W85382965 hasConceptScore W85382965C142724271 @default.
• W85382965 hasConceptScore W85382965C2777055284 @default.
• W85382965 hasConceptScore W85382965C2778329176 @default.
• W85382965 hasConceptScore W85382965C2781447767 @default.
• W85382965 hasConceptScore W85382965C502942594 @default.
• W85382965 hasConceptScore W85382965C54355233 @default.
• W85382965 hasConceptScore W85382965C71924100 @default.
• W85382965 hasConceptScore W85382965C86803240 @default.
• W85382965 hasConceptScore W85382965C97329493 @default.
• W85382965 hasIssue "2" @default.
• W85382965 hasLocation W853829651 @default.
• W85382965 hasOpenAccess W85382965 @default.
• W85382965 hasPrimaryLocation W853829651 @default.
• W85382965 hasVolume "25" @default.
• W85382965 isParatext "false" @default.
• W85382965 isRetracted "false" @default.
• W85382965 magId "85382965" @default.
• W85382965 workType "article" @default.