Malignant rhabdoid tumour pathophysiology: Difference between revisions
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==Overview== | ==Overview== | ||
==Pathophysiology== | |||
Malignant rhabdoid tumors (MRT) are a rare and highly malignant childhood neoplasm. Later rhabdoid tumors outside the kidney were reported in many tissues including the liver, soft tissue, and the [[central nervous system]]. Several cases of primary intracranial MRT have been reported since its recognition as a separate entity in 1978. The term "rhabdoid" was used due to its similarity with [[Rhabdomyosarcoma |rhabdomyosarcoma]] under the light microscope. The exact pathogenesis of MRT is unknown. | |||
The [[Cerebellum |cerebellum]] is the most common location for primary intracerebral MRT (i.e., [[ATRT |AT/RT]]). Biggs et al were first to report a primary intracranial MRT around 1987.<ref>{{cite journal | |||
| author = PJ Biggs | |||
| coauthors = Garen PD, Powers JM, Garvin AJ | |||
| year = 1987 | |||
| title = Malignant rhabdoid tumor of the central nervous system | |||
| journal = Hum Pathol 1987 | |||
| volume = (18) | |||
| issue = (4) | |||
| pages = 332–337 | |||
| language = English | |||
}}</ref> | |||
Although the cell of origin is not know, [[Cytogenetics|cytogenetic studies]] have suggested a common genetic basis for rhabdoid tumors regardless of location with abnormalities in [[chromosome 22]] commonly occurring. | |||
==Rhabdoid tumors in kidney and brain== | |||
Considerable debate has been focused on whether AT/RTs are the same as rhabdoid tumors of the kidney (i.e., just extra-renal MRTs (Maligant Rhaboid Tumors). The recent recognition that both CNS atypical teratoid/rhabdoid tumors (AT/RTs) and MRTs have deletions of the INI1 gene in chromosome 22 indicates that rhabdoid tumors of the kidney and brain are identical or closely related entities. Although, the CNS variant tends to have its mutations on Taxon 9 and MRTs elsewhere. This observation is not surprising because rhabdoid tumors at both locations possess similar histologic, clinical, and demographic features. Moreover, 10-15% of patients with MRTs have synchronous or metachronous brain tumors, many of which are second primary malignant rhabdoid tumors. This similarity excludes composite Rhabdoid tumors, which occur mainly in adults. | |||
==References== | ==References== | ||
Revision as of 16:05, 22 January 2012
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Malignant rhabdoid tumour Microchapters |
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Differentiating Malignant Rhabdoid Tumour from other Diseases |
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Malignant rhabdoid tumour pathophysiology On the Web |
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Pathophysiology
Malignant rhabdoid tumors (MRT) are a rare and highly malignant childhood neoplasm. Later rhabdoid tumors outside the kidney were reported in many tissues including the liver, soft tissue, and the central nervous system. Several cases of primary intracranial MRT have been reported since its recognition as a separate entity in 1978. The term "rhabdoid" was used due to its similarity with rhabdomyosarcoma under the light microscope. The exact pathogenesis of MRT is unknown.
The cerebellum is the most common location for primary intracerebral MRT (i.e., AT/RT). Biggs et al were first to report a primary intracranial MRT around 1987.[1]
Although the cell of origin is not know, cytogenetic studies have suggested a common genetic basis for rhabdoid tumors regardless of location with abnormalities in chromosome 22 commonly occurring.
Rhabdoid tumors in kidney and brain
Considerable debate has been focused on whether AT/RTs are the same as rhabdoid tumors of the kidney (i.e., just extra-renal MRTs (Maligant Rhaboid Tumors). The recent recognition that both CNS atypical teratoid/rhabdoid tumors (AT/RTs) and MRTs have deletions of the INI1 gene in chromosome 22 indicates that rhabdoid tumors of the kidney and brain are identical or closely related entities. Although, the CNS variant tends to have its mutations on Taxon 9 and MRTs elsewhere. This observation is not surprising because rhabdoid tumors at both locations possess similar histologic, clinical, and demographic features. Moreover, 10-15% of patients with MRTs have synchronous or metachronous brain tumors, many of which are second primary malignant rhabdoid tumors. This similarity excludes composite Rhabdoid tumors, which occur mainly in adults.
References