Tuberous sclerosis complex, Clinic and pathology manifestations, Mini -review
Tuberous sclerosis complex (TSC) is an autosomal dominant neurocutaneous syndrome that affects almost all of the organs of the body, including the brain, heart, lungs, liver, and kidneys. Brain tumors in TSC patients include cortical tubers, subependymal nodules (SENs), and Subependymal giant cell...
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| Format: | Article |
| Language: | English |
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Tehran University of Medical Sciences
2022-11-01
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| Series: | Basic & Clinical Cancer Research |
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| Online Access: | https://bccr.tums.ac.ir/index.php/bccrj/article/view/421 |
| _version_ | 1797979843546054656 |
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| author | Mazaher Ramezani Behnaz Darvishi |
| author_facet | Mazaher Ramezani Behnaz Darvishi |
| author_sort | Mazaher Ramezani |
| collection | DOAJ |
| description |
Tuberous sclerosis complex (TSC) is an autosomal dominant neurocutaneous syndrome that affects almost all of the organs of the body, including the brain, heart, lungs, liver, and kidneys. Brain tumors in TSC patients include cortical tubers, subependymal nodules (SENs), and Subependymal giant cell astrocytomas (SEGAs). Seizures that occur in 92% of patients with TSC are an important cause of sudden deaths in them. Other organ involvement includes renal angiomyolipomas, lymphangioleiomyomatosis, cardiac rhabdomyomas, and cutaneous manifestations (hypomelanotic macules, angiofibromas, ungual fibromas, shagreen patch, and 'confetti' skin lesions). There is a criterion for tuberous sclerosis complex that consists of 11 major and 6 minor clinical features that diagnosis occurs based on it. The best way for definitive diagnosis of TSC in a patient is using genetic tests and histopathology. Immunohistochemistry is a helpful method in confirming the diagnosis of brain tumors in TSC. Immunostaining of SEGA shows positivity for GFAP and S-100 protein while neurofilament and synaptophysin are negative. Ki-67, which indicates nuclear proliferation, has a low proliferation index in immunostain. At the beginning of aggression the tumor or manifestation of hydrocephalus and symptoms of rising intracranial pressure and focal neurologic deficit, surgery is a necessity and can improve outcome. The aim of this study is a concise review of literature for clinicians and pathologists for better diagnosis and management of disease with variable manifestation.
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| first_indexed | 2024-04-11T05:45:07Z |
| format | Article |
| id | doaj.art-f328e96811c34ee680a388279028945f |
| institution | Directory Open Access Journal |
| issn | 2228-6527 2228-5466 |
| language | English |
| last_indexed | 2024-04-11T05:45:07Z |
| publishDate | 2022-11-01 |
| publisher | Tehran University of Medical Sciences |
| record_format | Article |
| series | Basic & Clinical Cancer Research |
| spelling | doaj.art-f328e96811c34ee680a388279028945f2022-12-22T04:42:17ZengTehran University of Medical SciencesBasic & Clinical Cancer Research2228-65272228-54662022-11-01134Tuberous sclerosis complex, Clinic and pathology manifestations, Mini -reviewMazaher Ramezani0Behnaz Darvishi1Department of Molecular Pathology, Kermanshah University of Medical Sciences, Kermansha, Iran1Students Research Committee, Kermanshah University of Medical Sciences, Kermanshah, Iran Tuberous sclerosis complex (TSC) is an autosomal dominant neurocutaneous syndrome that affects almost all of the organs of the body, including the brain, heart, lungs, liver, and kidneys. Brain tumors in TSC patients include cortical tubers, subependymal nodules (SENs), and Subependymal giant cell astrocytomas (SEGAs). Seizures that occur in 92% of patients with TSC are an important cause of sudden deaths in them. Other organ involvement includes renal angiomyolipomas, lymphangioleiomyomatosis, cardiac rhabdomyomas, and cutaneous manifestations (hypomelanotic macules, angiofibromas, ungual fibromas, shagreen patch, and 'confetti' skin lesions). There is a criterion for tuberous sclerosis complex that consists of 11 major and 6 minor clinical features that diagnosis occurs based on it. The best way for definitive diagnosis of TSC in a patient is using genetic tests and histopathology. Immunohistochemistry is a helpful method in confirming the diagnosis of brain tumors in TSC. Immunostaining of SEGA shows positivity for GFAP and S-100 protein while neurofilament and synaptophysin are negative. Ki-67, which indicates nuclear proliferation, has a low proliferation index in immunostain. At the beginning of aggression the tumor or manifestation of hydrocephalus and symptoms of rising intracranial pressure and focal neurologic deficit, surgery is a necessity and can improve outcome. The aim of this study is a concise review of literature for clinicians and pathologists for better diagnosis and management of disease with variable manifestation. https://bccr.tums.ac.ir/index.php/bccrj/article/view/421Tuberous sclerosis complex, Clinic, Pathology, Mini review |
| spellingShingle | Mazaher Ramezani Behnaz Darvishi Tuberous sclerosis complex, Clinic and pathology manifestations, Mini -review Basic & Clinical Cancer Research Tuberous sclerosis complex, Clinic, Pathology, Mini review |
| title | Tuberous sclerosis complex, Clinic and pathology manifestations, Mini -review |
| title_full | Tuberous sclerosis complex, Clinic and pathology manifestations, Mini -review |
| title_fullStr | Tuberous sclerosis complex, Clinic and pathology manifestations, Mini -review |
| title_full_unstemmed | Tuberous sclerosis complex, Clinic and pathology manifestations, Mini -review |
| title_short | Tuberous sclerosis complex, Clinic and pathology manifestations, Mini -review |
| title_sort | tuberous sclerosis complex clinic and pathology manifestations mini review |
| topic | Tuberous sclerosis complex, Clinic, Pathology, Mini review |
| url | https://bccr.tums.ac.ir/index.php/bccrj/article/view/421 |
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