Case report<br>Atypical teratoid/rhabdoid tumor of the brain in an adult with 22q deletion but no absence of INI1 protein: a case report and review of the literature

Shumei Jin; Cuiyun Sun; Shizhu Yu; Qian Wang; Tongling An; Yanjun Wen

doi:10.5114/fn.2015.49977

eISSN: 1509-572x
ISSN: 1641-4640

Folia Neuropathologica

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1/2015
vol. 53

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abstract:

Case report
Atypical teratoid/rhabdoid tumor of the brain in an adult with 22q deletion but no absence of INI1 protein: a case report and review of the literature

Shumei Jin

,

Cuiyun Sun

,

Shizhu Yu

,

Qian Wang

,

Tongling An

,

Yanjun Wen

Folia Neuropathol 2015; 53 (1) : 80-85

DOI: https://doi.org/10.5114/fn.2015.49977

Online publish date: 2015/03/24

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We report a case of atypical teratoid/rhabdoid tumor (AT/RT) of the central nervous system (CNS) in an adult and its immunological phenotype and chromosomal DNA imbalance characteristics, as detected by comparative genomic hybridization (CGH). The immunohistochemical characteristics showed that atypical rhabdoid cells were positive for epithelial membrane antigen, vimentin, desmin, and glial fibrillary acidic protein, but there was no absence of INI1 protein. The CGH results identified the imbalances of the case to be the loss of 1p, 5q, 12q, 15q, 19q and 22q and the gain of 9q. Our discovery raises the question whether INI1 is implicated in all cases and whether its deletion is necessary in the pathogenesis of AT/RT, and also whether additional genetic pathways might exist. These data will offer useful information for further research on AT/RTs.

keywords:

Case reportAtypical teratoid/rhabdoid tumor of the brain in an adult with 22q deletion but no absence of INI1 protein: a case report and review of the literature

Shumei Jin , Cuiyun Sun , Shizhu Yu , Qian Wang , Tongling An , Yanjun Wen

atypical teratoid/rhabdoid tumor, comparative genomic hybridization, loss of 22q, INI1 protein

Case report
Atypical teratoid/rhabdoid tumor of the brain in an adult with 22q deletion but no absence of INI1 protein: a case report and review of the literature

Shumei Jin

,

Cuiyun Sun

,

Shizhu Yu

,

Qian Wang

,

Tongling An

,

Yanjun Wen