Malignant Brain Tumor With Rhabdoid Features in an Adult  -Case Report-

Mutou, Jun; Hirose, Yuichi; Ikeda, Eiji; Yoshida, Kazunari; Nakazato, Yoichi; Kawase, Takeshi

doi:10.2176/nmc.51.449

Cited by 14 publications

(13 citation statements)

References 38 publications

(59 reference statements)

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“…The diagnosis of rhabdoid GB is primarily histological, with immunohistochemical and genetic testing used to further characterize the tumor and confirm the diagnosis. 20 Areas of high-grade glioma are seen only in rhabdoid GB and are not present in other rhabdoid CNS tumors. 15 The immunohistochemical profile of rhabdoid GB is varied, with GFAP, EMA, vimentin, and neurofilament being common markers.…”

Section: Discussionmentioning

confidence: 99%

“…15 The immunohistochemical profile of rhabdoid GB is varied, with GFAP, EMA, vimentin, and neurofilament being common markers. 9,10,17,[19][20][21]32 Positive immunohistochemical staining of neurofilament and overexpression of vimentin offer possible markers by which to differentiate it from its parent disease, with which it shares some morphological features. 19,27 Rhabdoid GBs can be differentiated from other rhabdoid tumors of the CNS by the presence of INI-1, the hSNF5/INI-1 tumor suppressor gene product.…”

Section: Discussionmentioning

confidence: 99%

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Clinicopathological characteristics and treatment of rhabdoid glioblastoma

Babu¹,

Hatef²,

McLendon³

et al. 2013

JNS

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Object Rhabdoid glioblastoma (GB) is an exceedingly rare tumor in which some of the tumor cells possess rhabdoid features such as eccentric nuclei, abundant eosinophilic cytoplasm, and pseudopapillary formations. These tumors are exceptionally aggressive, and leptomeningeal dissemination is common. In the 9 previously reported cases, the longest survival was only 9 months, with a median survival of 17.8 weeks. The authors report the clinicopathological characteristics of 4 cases of rhabdoid GB and demonstrate the utility of intensive temozolomide and adjuvant therapy in these tumors. The authors also review the literature to provide the most comprehensive understanding of these rare tumors to date. Methods A retrospective review was performed of patients treated for GB at the Duke University Medical Center between 2004 and 2012. One of two experienced neuropathologists identified 4 cases as being rhabdoid GBs. Immunohistochemistry and fluorescence in situ hybridization analyses were performed in all cases. Kaplan-Meier analysis was used to assess overall survival, with the log-rank test being used to evaluate differences between survival curves. An extensive review of the literature was also performed. Results The median age of patients with rhabdoid GB was 30 years. Clinical presentation varied with location, with headache being a presenting symptom in 90% of patients. All lesions were supratentorial, and 45.5% of the cases involved the temporal lobe. Leptomeningeal dissemination occurred in 63.6% of patients, with 1 patient having extracranial metastasis to the scalp and lungs. Fluorescence in situ hybridization revealed epidermal growth factor receptor gain or amplification in all study cases. The median survival in the authors' cohort was significantly higher than that of all previously reported cases (27.5 vs 4.5 months, p = 0.003). Postoperative treatment in the authors' cohort included radiotherapy with concurrent temozolomide, bevacizumab, interleukin 13, CCNU, and/or etoposide. Conclusions Enhanced survival in the authors' 4 patients suggests that the current standard of care for the treatment of GB may be beneficial in rhabdoid GB cases, with postoperative radiotherapy and concomitant temozolomide treatment followed by adjuvant therapy. Due to the rapid tumor dissemination associated with these lesions, aggressive and timely therapy is warranted, with frequent surveillance and/or continued therapy despite stable disease. Additionally, patients should undergo full craniospinal imaging to monitor the development of distant metastatic disease.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Clinicopathological characteristics and treatment of rhabdoid glioblastoma

Babu¹,

Hatef²,

McLendon³

et al. 2013

JNS

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“…Other CNS tumors with rhabdoid histology include the “epithelioid glioblastoma with rhabdoid component” as well as the “rhabdoid” variants of more common tumors: meningioma, carcinoma, chordoma, and even sarcoma (7). …”

Section: Introductionmentioning

confidence: 99%

Atypical Teratoid Rhabdoid Tumor: Two Case Reports and an Analysis of Adult Cases with Implications for Pathophysiology and Treatment

et al. 2017

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We present the first quantitative analysis of atypical teratoid rhabdoid tumors (ATRT) in adults, including two patients from our own institutions. These are of interest as one occurred during pregnancy and one is a long-term survivor. Our review of pathological findings of 50 reported cases of adult ATRT leads us to propose a solely ectodermal origin for the tumor and that epithelial–mesenchymal transition (EMT) is a defining feature. Thus, the term ATRT may be misleading. Our review of clinical findings shows that ATRT tends to originate in mid-line structures adjacent to the CSF, leading to a high rate of leptomeningeal dissemination. Thus, we hypothesize that residual undifferentiated ectoderm in the circumventricular organs, particularly the pituitary and pineal glands, is the most common origin for these tumors. We note that if growth is not arrested soon after diagnosis, or after the first relapse/progression, death is almost universal. While typically rapidly fatal (as in our first case), long-term remission is possible (as in our second). Significant predictors of prognosis were the extent of resection and the use of chemotherapy. Glial differentiation (GFAP staining) was strongly associated with leptomeningeal metastases (chi-squared p = 0.02) and both predicted markedly worse outcomes. Clinical trials including adults are rare. ATRT is primarily a disease of infancy and radiotherapy is generally avoided in those aged less than 3 years old. Treatment options in adults differ from infants in that cranio-spinal irradiation is a viable adjunct to systemic chemotherapy in the adult population. Given the grave prognosis, this combined approach appears reasonable. As effective chemotherapy is likely to cause myelosuppression, we recommend that stem-cell rescue be available locally.

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“…Among these, AT/RT is the most frequent one, is usually found in infancy and childhood, and consists of rhabdoid, primitive neuroepithelial, and mesenchymal components [4]. rGBs are said to be more aggressive than typical GBs and have worse prognosis [5][6][7][8][9][10][11]. Diagnosis relies mainly on pathology, while imaging findings seem to be nonspecific as judged from a limited number of cases.…”

Section: Introductionmentioning

confidence: 99%

“…Pathological diagnosis is primarily histological, where immunohistochemistry and genetic testing is used to further characterize tumor and confirm the diagnosis [10]. So far, only 21 cases of rGBs have been reported as single case reports or small groups of patients [1,3,[5][6][7][8][9][10][11][12][13][14]. In these reports, clinicopathologic and genetic features have been emphasized and detailed evaluations of imaging findings have not been presented.…”

Section: Introductionmentioning

confidence: 99%