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Hindawi Publishing Corporation Case Reports in Oncological Medicine Volume 2013, Article ID 815923, 4 pages http://dx.doi.org/10.1155/2013/815923 Case Report Atypical Presentation of Atypical Teratoid Rhabdoid Tumor in a Child 1 1,2 3 1,4,5 Y. T. Udaka, K. Shayan, N. A. Chuang, and J. R. Crawford eTh Department of Pediatrics, University of California, San Diego and Rady Children’s Hospital, 3020 Children’s Way, SanDiego,CA92123,USA The Department of Pathology, University of California, San Diego and Rady Children’s Hospital, 3020 Children’s Way, SanDiego,CA92123,USA The Department of Radiology, University of California, San Diego and Rady Children’s Hospital, 3020 Children’s Way, SanDiego,CA92123,USA eTh Department of Neurosciences, University of California, San Diego and Rady Children’s Hospital, 3020 Children’s Way, SanDiego,CA92123,USA University of California, San Diego, Division of Child Neurology, Rady Children’s Hospital, 8010 FrostStreetSuite 400, SanDiego,CA92123,USA Correspondence should be addressed to J. R. Crawford; firstname.lastname@example.org Received 23 March 2013; Accepted 7 May 2013 Academic Editors: C. Gennatas, R. Palmirotta, and K. Tanaka Copyright © 2013 Y. T. Udaka et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Atypical Teratoid Rhabdoid Tumor (ATRT) is a rare malignant intracranial neoplasm more commonly diagnosed in young children. eTh authors report the case of an 11-year-old boy with a long standing history of slowly progressive weight loss, fatigue, and weakness over 1.5 years whose magnetic resonance imaging revealed a large heterogeneous enhancing dorsally exophytic lower brainstem mass. Examination revealed extreme cachexia, gaze-evoked nystagmus, dysphagia, dysarthria, bilateral dysmetria, and global weakness without ambulation. The protracted history and neuroimaging features were most suggestive of a low grade glioma. However, pathology revealed a hypercellular tumor with large hyperchromatic nucleoli and loss of INI-1 staining on immunohistochemistry consistent with a diagnosis of an ATRT. The child died shortly aer ft surgery due to complications from his brainstem infiltrative disease. This case illustrates the diverse presentation of ATRT in childhood that can clinically and radiographically mimic that of low grade glioma. 1. Introduction classification of tumors in 1993 as a grade IV embryonal tumor [4, 5]. ATRT is a highly aggressive tumor that was pre- Primary childhood brain and central nervous system (CNS) viously misclassified as a medulloblastoma or primary neu- brain tumors occur at an incidence of 5.1 per 100,000 in the roectodermal tumor (PNET) until being described as a United States with a slightly higher rate in males . It is the discrete clinical entity in the 1980s. ATRT can occur in both second most common malignancy and the most common supratentorial and infratentorial regions and oeft n is associat- form of solid tumors in children. Atypical Teratoid Rhabdoid ed with poor survival depending on the location and degree Tumor (ATRT) is a rare malignant intracranial neoplasm of resection. Immunohistochemistry plays a role in conrfi m- ing the diagnosis with loss of INI-1 staining in the neoplastic occurring mainly in young children comprising only 1-2% of all pediatric brain tumors but approximately 10–20% of cells . We report an 11-year-old child who had an atypical CNStumorsinpatientslessthan3yearsofage [2, 3]. Pri- clinical presentation and radiographic features for an ATRT. mary CNS ATRT was recognized as a separate entity and It is important for clinicians to recognize the diverse presen- added to the World Health Organization (WHO) tumor tation of ATRT that can mimic that of low grade gliomas. 2 Case Reports in Oncological Medicine (a) (b) (c) (d) Figure 1: MRI features of Atypical Teratoid Rhabdoid Tumor. Sagittal T1 MRI demonstrates a large heterogeneous dorsally exophytic lower brainstem mass (a) which shows robust enhancement on postcontrast coronal T1 sequence (b). The tumor causes extensive compression of the ventral medulla on transaxial T2 sequence (c) and areas of reduced diffusivity (high signal intensity) on transaxial diffusion-weighted sequence (d). 2. Case Report patient’s age, chronicity of symptoms, tumor location, and appearance on MRI, a low grade glioma was suspected and An 11-year-old previously healthy male presented to our a subtotal resection was obtained. Microscopic examination hospital following a one-and-a-half year history of worsening revealed a round blue cell tumor of high cellularity composed vomiting, extreme cachexia, dysphagia, drooling, and a rapid of atypical cells with eccentric nuclei, small nucleoli, and decline with progressive weakness to the point of inability abundant amounts of eosinophilic cytoplasm with frequent to ambulate over a course of 2-3 months. His neurological mitotic gfi ures. Immunohistochemistry studies revealed loss examination at presentation revealed bilateral lateral and of INI-1 staining in neoplastic cells confirming the diagnosis down gaze nystagmus, diminished strength most noticeable of ATRT (Figure 2). The patient died two months following in finger and wrist extensors of the right upper extremity, and surgery due to complications of his brainstem infiltrative mildly decreased rapid alternating movements of right upper disease. and lower extremities. Magnetic resonance imaging (MRI) examination of the brain revealed a large heterogeneous enhancing mass on T2-weighted imaging centered in the 3. Discussion medulla with dorsal exophytic extension into the fourth ventricle with internal areas of restricted diffusion but rel- ATRT remains a significant challenge in pediatric neuroon- ative lack of surrounding edema (Figure 1). Internal areas cology. Due to its aggressive nature and high rate of lep- of low signal intensity on susceptibility-weighted imaging tomeningeal dissemination, children oeft n progress within likely represented hemorrhage and/or calcification. Given the months to ayearofdiagnosis [7, 8]. Data from the ATRT Case Reports in Oncological Medicine 3 (a) (b) Figure 2: Histologic features of Atypical Teratoid Rhabdoid Tumor. (a) Histologic examination of the tumor reveals diffuse eosinophilic cytoplasmic globules, vesicular chromatin, and scattered large pleomorphic nucleoli (hematoxylin and eosin 40x). (b) Loss of INI-1 expression of the neoplastic cells by immunohistochemistry staining confirms the diagnosis of ATRT (40x). tumor registry estimate that approximately 20% of patients the diverse presentation and radiographic features that may have disseminated disease at the time of presentation . Our mimic those of low grade glial neoplasms. reported case is unusual in that our patient had progressive symptoms for a year and a half without dissemination, hydro- Conflict of Interests cephalus, or significant intratumoral hemorrhage, suggesting amoreindolentcoursethanwhatistypical forthishighly eTh authors report no conflict of interests. malignant CNS tumor. His age at presentation was atypical given the higher predilection of this tumor type to children References less than 3 years of age. However, although rare, ATRTs have also been reported in adult patients . There are  CBTRUS, “CBTRUS Statistical Report: Primary Brain and no specicfi imaging features for intracranial ATRTs [ 10, 11]. Central Nervous System Tumors Diagnosed in the United States They are more oen ft intraaxially positioned but can be either in 2005–2009,” 2012. supra- or infratentorial in location and usually show reduced  J. A. Biegel, “Molecular genetics of atypical teratoid/rhabdoid diffusion on MRI. Supratentorial ATRT can exhibit a cystic tumor,” Neurosurgical Focus,vol.20, no.1,p.E11, 2006. appearance with a heterogeneously enhancing wall in some  K. F. Ginn and A. Gajjar, “Atypical teratoid rhabdoid tumor: cases . Given the high tendency for CNS dissemination current therapy and future directions,” Frontiers in Oncology, vol. 2, article 114, 2012. a contrast-enhanced MRI of the entire spine is essential for staging because the presence of disseminated leptomeningeal ¨  H. Radner, I. Blumcke, G. Reifenberger, and O. Wiestler, “The new WHO classification of tumors of the nervous system 2000. disease is associated with a significantly higher mortality rate Pathology and genetics,” Der Pathologe,vol.23, no.4,pp. 260– . Although not specific to ATRTs and not statistically 283, 2002. significant, ATRTs have a higher tendency for being large  P. Kleihues, D. N. Louis, B. W. Scheithauer et al., “The WHO and often have some component of calcicfi ation, hemorrhage, classification of tumors of the nervous system,” Journal of or necrosis on imaging . In our patient the tumor did Neuropathology and Experimental Neurology,vol.61, no.3,pp. display some of these nonspecific characteristics of an ATRT. 215–225, 2002. However, it was surprising given, the long standing history of  K.W.Eaton,L.S.Tooke,L.M.Wainwright, A. R. Judkins, and progressive symptoms, that neither leptomeningeal dissemi- J. A. Biegel, “Spectrum of SMARCB1/INI1 mutations in familial nation nor hydrocephalus was present. and sporadic rhabdoid tumors,” Pediatric Blood and Cancer,vol. ATRTs can mimic supratentorial PNET and medulloblas- 56, no. 1, pp. 7–15, 2011. toma both histologically and radiographically. One of the  J. M. Hilden, S. Meerbaum, P. Burger et al., “Central nervous earliest studies looking at a series of infants with CNS ATRTs system atypical teratoid/rhabdoid tumor: results of therapy in showed an association with an abnormality on chromosome children enrolled in a registry,” Journal of Clinical Oncology,vol. 22 [8, 13]. ATRTs are characterized by a loss of the long arm 22, no. 14, pp. 2877–2884, 2004. of chromosome 22 which results in a loss of the hSNF5/INI-1  L.B.Rorke,R.Packer, andJ.Biegel, “Central nervoussystem gene . This has become the defining molecular signature atypical teratoid/rhabdoid tumors of infancy and childhood,” of ATRT. Molecular advances in our understanding of ATRT Journal of Neuro-Oncology,vol.24, no.1,pp. 21–28, 1995. have made it possible to distinguish it from PNET and  J. Lutterbach, J. Liegibel, D. Koch, A. Madlinger, H. Frommhold, medulloblastoma by the absence of INI-1 immunohistochem- and A. Pagenstecher, “Atypical teratoid/rhabdoid tumors in ical staining. Although ATRTs are rare tumors especially in adult patients: case report and review of the literature,” Journal the older pediatric population, it is important to recognize of Neuro-Oncology,vol.52, no.1,pp. 49–56, 2001. 4 Case Reports in Oncological Medicine  S. P. Meyers,Z.P.Khademian,J.A.Biegel, S. H. Chuang, D. N. Korones, and R. A. Zimmerman, “Primary intracranial atypical teratoid/rhabdoid tumors of infancy and childhood: MRI features and patient outcomes,” The American Journal of Neuroradiology,vol.27, no.5,pp. 962–971, 2006.  H. Parmar, C. Hawkins, E. Boueff t, J. Rutka, and M. Shroff, “Imaging findings in primary intracranial atypical teratoid/rhabdoid tumors,” Pediatric Radiology,vol.36, no.2, pp.126–132,2006.  K. J. Au Yong,J.L.Jaremko,and L. Jans,“Howspecific is the MRI appearance of supratentorial atypical teratoid rhabdoid tumors?” Pediatric Radiology,vol.43, no.3,pp. 347–354, 2013.  L.B.Rorke,R.J.Packer, andJ.A.Biegel, “Central nervous system atypical teratoid/rhabdoid tumors of infancy and child- hood: definition of an entity,” Journal of Neurosurgery,vol.85, no. 1, pp. 56–65, 1996. 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Published: May 27, 2013
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