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| {{Atypical teratoid rhabdoid tumor}} | | {{Atypical teratoid rhabdoid tumor}} |
| {{CMG}}{{AE}}{{SR}} | | {{CMG}}{{AE}}{{SR}} |
| ==Risk Factors==
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| Atypical teratoid/rhabdoid tumors are very rare tumors and absolute risk to siblings is not reported in the literature. However, there have been some reports of AT/RTs presenting in two members of the same family, or one family member with a AT/RT and another with a renal rhabdoid tumor or other CNS tumor. These are suspected to arise from [[Germline|germ-line]] genetic mutations in a parent shared by affected siblings.
| | ==Overview== |
| | There are no established [[Risk factor|risk factors]] for atypical teratoid rhabdoid tumor. |
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| *A three-generation family is known in which two half-brothers were diagnosed with central nervous system atypical teratoid/rhabdoid tumors (AT/RT). The two boys, diagnosed at 2 months and 17 months of age, had a germline insertion mutation in exon 4 of the INI1 gene that was inherited from their healthy mother. A maternal uncle died in childhood from a brain tumor and a malignant rhabdoid tumor of the kidney. The identification of two unaffected carriers in a family segregating a germline mutation and rhabdoid tumor supports the hypothesis that there may be variable risks of development of rhabdoid tumor in the context of a germline mutation. There may be a developmental window in which most rhabdoid tumors occur. This family highlights the importance of mutation analysis in all patients with a suspected rhabdoid tumor.<ref>{{cite journal |author=Janson K, Nedzi LA, David O, ''et al'' |title=Predisposition to atypical teratoid/rhabdoid tumor due to an inherited INI1 mutation |journal=Pediatr Blood Cancer |volume=47 |issue=3 |pages=279–84 |year=2006 |pmid=16261613 |doi=10.1002/pbc.20622}}</ref>
| | ==Risk Factors== |
| | | There are no established [[Risk factor|risk factors]] for atypical teratoid rhabdoid tumor. |
| *In the first case report of [[monozygotic]] twins, both with brain tumors having similar genetic alterations, authors suggest a common genetic pathway.<ref>{{cite journal
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| | last = Fernandez C, Bouvier C, Sevent N.
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| | title = Congenital disseminated malignant rhabdoid tumor and cerebellar tumor mimicking medulloblastoma in monozygotic twins: pathologic and molecular diagnosis
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| | journal = Am J Surg Pathol
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| | pmid = 11812951
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| | year = 2002
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| | issue = 26:
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| | pages = 266–70 }}</ref>
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| *A case reported on an infant that developed both AT/RT and renal rhabdoid tumors that were identical in gross and immunologic histology.<ref>{{cite journal
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| | author = Beigel, JA, Fogelgren B, Wainwright LM, et al
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| | title = Germ-line INI1 mutations in a patient with a central nervous system atypical teratoid tumor and renal rhabdoid tumor
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| | journal = Genes Chromosomes Cancer
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| | volume =
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| | year = 2000
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| | issue = 1
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| | pages = 31–7 }}</ref>
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| * A family has had multiple generations of posterior fossa tumors including rhabdoid tumors and [[choroid plexus]] [[carcinoma]]. A germ-line mutation (SMARCB1) was found in both affected and some unaffected family members.<ref>{{cite journal
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| |author=Taylor MD, Gokgoz N, Andrulis IL, Mainprize TG, Drake JM, Rutka JT
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| |title=Familial posterior fossa brain tumors of infancy secondary to germline mutation of the hSNF5 gene
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| |journal=Am. J. Hum. Genet.
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| |volume=66
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| |issue=4
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| |pages=1403–6
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| |year=2000
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| |pmid=10739763
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| |doi=10.1086/302833
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| |url=
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| }}</ref>
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| *Two sisters were diagnosed with AT/RTs fifteen days apart. A case report stated there were no [[Karyotype|karyotypic]] anomalies noted.<ref>{{cite journal
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| |author=Proust F, Laquerriere A, Constantin B, Ruchoux MM, Vannier JP, Fréger P
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| |title=Simultaneous presentation of atypical teratoid/rhabdoid tumor in siblings
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| |journal=J. Neurooncol.
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| |volume=43
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| |issue=1
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| |pages=63–70
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| |year=1999
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| |pmid=10448873
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| |doi=
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| |url=http://www.kluweronline.com/art.pdf?issn=0167-594X&volume=43&page=63
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| }}</ref>
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| *Three siblings had a mutation of the SMARCB1 gene and one had a [[choroid plexus]] [[carcinoma]] and two had an AT/RT. Although the mother had a normal somatic DNA it appears that the mutation was inherited from the mother's germline due to a mutation during [[oogenesis]].<ref>{{cite journal
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| | author = Sevent N, Sheridan E, Amran D, et al
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| | title = Constitutional mutations of the hSNF/INI1 gene predispose to a variety of cancers
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| | journal = Am J Hum Genet
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| | year = 1999
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| | issue = 65
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| | pages = 1343–48 }}</ref>
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| *Izycka-Swieszewska et al. describe a five month-old child with an AT/RT, whose father was diagnosed with a primitive neuroectodermal tumor (PNET) of the spinal canal. [[Fluorescent in situ hybridization|FISH]] analysis showed significant genetic differences in the specimens which suggest that the occurrence of these virulent CNS malignancies within a single family was coincidental.<ref>{{cite
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| | author = Ewa Izycka-Swieszewska, Maria Debiec-Rychter, Bartosz Wasag, et al.
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| | title = A unique occurrence of a cerebral atypical teratoid/rhabdoid tumor in an infant and a spinal canal primitive neuroectodermal tumor in her father
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| | journal = Journal of Neuro-Oncology
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| | year = February 2003
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| | issue = 3
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| | pages = 219-225
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| | doi = 10.1023/A:1022532727436 }}</ref>
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| ==References== | | ==References== |
| {{reflist|2}} | | {{reflist|2}} |
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| [[Category:Types of cancer]] | | [[Category:Types of cancer]] |
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| [[Category:Pediatric cancers]] | | [[Category:Pediatric cancers]] |
| [[Category:Disease]] | | [[Category:Disease]] |
| [[Category:Needs overview]] | | [[Category:Oncology]] |
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