- Department of Neurosurgery, Tenri Hospital, Tenri, Nara, Japan
Department of Neurosurgery, Tenri Hospital, Tenri, Nara, Japan
DOI:10.4103/2152-7806.133105Copyright: © 2014 Shitara S This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
How to cite this article: Shitara S, Akiyama Y. Atypical teratoid/rhabdoid tumor in sellar turcica in an adult: A case report and review of the literature. Surg Neurol Int 23-May-2014;5:75
How to cite this URL: Shitara S, Akiyama Y. Atypical teratoid/rhabdoid tumor in sellar turcica in an adult: A case report and review of the literature. Surg Neurol Int 23-May-2014;5:75. Available from: http://sni.wpengine.com/surgicalint_articles/atypical-teratoidrhabdoid-tumor-in-sellar-turcica-in-an-adult-a-case-report-and-review-of-the-literature/
Background:Atypical teratoid/rhabdoid tumor (AT/RT) is a rare central nervous system tumor composed of primitive rhabdoid cells that may differentiate along neuroectodermal, mesenchymal and epithelial lineages. AT/RT in adults is rare but not completely exceptional. It generally arises from the posterior fossa of infants, but the broad majority of the reported AT/RT in adults manifested supratentorially with the exception of four cases that arose in the cerebellum and two that arose in the spinal cord.
Case Description:A 44-year-old female complained of visual disturbance. We performed craniotomies twice and removed partially for each time, but any malignant cells were not found in the specimens. Finally, we determined histological diagnosis from the extended lesion. She died of respiratory failure 17 months after the initial treatment.
Conclusion:AT/RT should be considered in the differential diagnosis of a sellar lesion in adult patients. However AT/RT is rare in adults, the appropriate immunohistochemical evaluation should be performed to diagnose this rare entity.
Keywords: Adult, atypical teratoid/rhabdoid tumor, sellar turcica
Atypical teratoid/rhabdoid tumor (AT/RT) is predominantly a childhood tumor and has only been rarely reported in adults.
The exact incidence of AT/RT is unknown. It occurs predominantly in infants less than 3 years of age.[
Here we present a case of a 44-year-old female with a AT/RT in sellar turcica who complained of visual disturbance. We performed craniotomies twice and removed partially for each time, but any malignant cells were not found in the specimens. Finally, we determined histological diagnosis from the extended lesion. It is the first case that AT/RT was diagnosed from the extended lesion and we detailed our case with a thorough literature review.
A previously healthy 44-year-old female presented with a 2-month history of visual disturbance. Magnetic resonance imaging (MRI) revealed a heterogeneously enhancing mass within suprasellar and intrasellar lesions [
Steroid pulse therapy was performed, but 2 months after the first operation, bilateral abducens paralysis was noticed. The second partial resection was performed, mainly ventral and rostral part of the tumor, via a basal interhemispheric approach [
The tumor was composed of polygonal cells with a relatively high nuclear/cytoplasm ratio and the rhabdoid cells had medium, round, single or double nuclei, and eosinophilic cytoplasmic inclusions. The tumor cells showed strong immunoreactivity for O-6 methylguanine DNA methyltransferase (MGMT), Nestin and S100 protein, and focal positivity for epithelial membrane antigen (EMA) and Glypican-3. Desmin, oligodendrocyte transcription factor 2 (oligo2), placentral alkaline phosphatase, myogenin and p63 were negative. Proliferative activity is high, and Ki-67/MIB-1 labeling index was more than 90%. Since the tumor cells lacked nuclear expression of INI1, the tumor was pathologically diagnosed as AT/RT [
Histologically, the tumor tissue is mainly composed of hyperchromatic small cells with a relatively high nuclear/cytoplasm ratio and rhabdoid cells (H and E. Original magnification ×100 (a) and ×400 (b)). In immunohistochemical studies, Nestin (c), S-100 (d) and Vimentin (e) were positive and EMA (f) was focally positive. The proliferation index measured by Ki-67 was 85% in the areas of highest mitotic activity (g) and the tumor cells lack nuclear staining for the INI1 protein (h). Pathological findings were consistent with those of atypical teratoid/rhabdoid tumor
In 1978, Beckwith and Palmer first documented the rhabdoid tumor, which occurred in the kidney, with the variant of the Wilm's tumor found in the kidneys of children.[
It is more frequently seen in infants and young children and is rare in adults.[
In immunohistochemical studies, rhabdoid cells are usually positive for vimentin, epithelical membrane antigen, cytokeratin, and smooth muscle actin. Markers for germ-cell tumors such as alpha-fetoprotein and placental alkaline phosphatase are consistently negative. Loss of expression of INI-1 correlates with mutation of the INI1 tumor suppressor gene (the hSNF5/INI1 gene), which maps to the 22q11.2 locus and is a sensitive and specific marker.[
AT/RT is characterized by an aggressive clinical behavior in most pediatric patients, who usually die within approximately one year after the diagnosis despite aggressive therapy, while adult patients are reportedly better with some longer-term survivors.[
In this case, we could not find any malignant cell in surgical specimens taken at two operations. The histological diagnosis was finally made from the extended site. Although there is a discrepancy between histologies, but it is natural that the lesions of left cavernous sinus, left orbital fossa and left forehead were consistently extended from the sellar turcica. This inference is confirmed by the fact that AT/RT show a greater tendency to disseminate intracranially and metastasize extracranially.[
Although extremely rare and usually fatal, AT/RT should be considered in the differential diagnosis of an unclear malignant sellar lesion in adult patients. It is important to perform a total resection of such tumors followed by chemotherapy and radiation therapy to afford patients a better prognosis. However AT/RT is rare in adults, the appropriate immunohistochemical evaluation should be performed to diagnose this rare entity.
The authors kindly thank Dr. Haga Yoshinori and Dr. Sachiko Minamiguchi (Kyoto University) for their excellent comments regarding the pathological diagnosis.
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