Atypical teratoid rhabdoid tumor mimicking beta-catenin-positive nodular medulloblastoma

Varlet, Pascale; Beaugrand, Andreas; Lacroix, Ludovic; Lequin, Delphine; Puget, Stéphanie; Negretti, Laura; Boddaert, Nathalie; Grill, Jacques; Dufour, Christelle

doi:10.1007/s00401-010-0796-5

Cited by 4 publications

(7 citation statements)

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“…beta‐catenin was reported as completely negative, although Varlet et al . had a positive case with a “nodular” growth pattern . In our series, most cases were negative, including cases with “nodular” differentiation (case numbers 1, 6 and 19).…”

Section: Discussionmentioning

confidence: 45%

“…Recently, loss of CDX2 has been linked to poor prognosis in colorectal carcinoma (CRC), including INI‐1/BAF47 negative CRC, showing rhabdoid morphology, and this was associated with increased P53 expression and beta‐catenin activation . Furthermore, beta‐catenin was described in AT/RT cases, especially with “nodular” growth pattern . A recent study detected the absence of SMARCA4, but not INI‐1, immunohistochemical expression in a WT‐1 positive small cell carcinoma of the ovary, thus linking it to rhabdoid tumors …”

Section: Introductionmentioning

confidence: 99%

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Atypical teratoid/ rhabdoid tumor, an immunohistochemical study of potential diagnostic and prognostic markers

et al. 2015

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Atypical teratoid/rhabdoid tumor (AT/RT) is a rare tumor of the CNS mostly seen in infants and is often associated with a dismal outcome. Despite the heterogeneous morphology and/or immunoprofile, its diagnosis nowadays relies on the negative INI-1/BAF47 nuclear immunostain in tumor cells. We aim to investigate a number of immunohistochemical antibodies as potential diagnostic and prognostic markers. All AT/RT cases in patients younger than 18 years of age were included. Demographics, clinical features and outcome were collected. Immunostains tested included SALL-4, OCT3/4, CD99, FLI-1, cyclin-D1, β-catenin, P53, P16, CDX2 and WT-1. Nineteen cases (10 males) were identified at our center between 2004-2013 with a median age of 24 months. Ten (52.6%) cases were supratentorial. Six (42.9%) cases showed metastasis at time of presentation. Chemotherapy was administered to 10 (62.5%) and radiotherapy to seven (43.8%). The median overall survival was 11 months. A single long-term survival of 104 months was identified. Pathologically, most cases showed an admixture of rhabdoid cells and/or small cells and/or pale cells in variable proportions. Of all tested antibodies, only positivity for FLI-1 was associated with improved survival (P = 0.0012), while positivity for cyclin-D1 showed a trend toward improved survival (P = 0.0547). CDX2 was positive only in the single long-term survival. Interestingly, two cases showed co-expression of CD99 and FLI-1, and some were positive for SALL-4. In conclusion, FLI-1 and cyclin-D1 are potential prognostic markers associated with better outcome. Occasional AT/RT cases might co-express CD99 and FLI-1 as well as SALL-4, a potential diagnostic pitfall with Ewing sarcoma/ primitive neuroectodermal tumors and germ cell tumors, respectively.

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Section: Discussionmentioning

confidence: 45%

Section: Introductionmentioning

confidence: 99%

Atypical teratoid/ rhabdoid tumor, an immunohistochemical study of potential diagnostic and prognostic markers

et al. 2015

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“…The majority of AT/RTs predominantly contain characteristic rhabdoid cells, with additional neuroepithelial, epithelial, and mesenchymal constituents (22). But aforementioned histopathological features are limited to diagnosis of AT/RT due to these findings, and can also be seen in PNET and medulloblastoma (23). AT/RTs have been reported to exist with 70% mutation or deletion of INI-1 tumor suppressor gene on 22q11.2 (8).…”

Section: Discussionmentioning

confidence: 99%

Atypical Teratoid/Rhabdoid Tumor Originated From the Trigeminal Nerve in a Young Male Adult: Case Report and Review of the Literature

Chen

Mei

et al. 2020

Front. Neurol.

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Atypical teratoid/rhabdoid tumor (AT/RT) is a highly malignant central nervous system neoplasm predominantly found in children under the age of 3 years, and is extremely rare in adults. There is no specific clinical presentations or radiological features in reported cases of AT/RT. Diagnosis of brain AT/RT is mainly dependent on the classical pathological characteristics. We report a rare case of AT/RT arising from the trigeminal nerve and leading to progressively multiple cranial nerve palsies in a 25-year-old male patient. Microsurgical resection of the tumor has been performed and confirmed the diagnosis by postoperative pathology. To our knowledge, this is the second case of adult-onset AT/RT originating from the trigeminal nerve.

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“…Recently, claudin‐6 was identified as a positive marker in AT/RT,10 and glucose transporter‐1 protein (Glut1) was identified as a useful marker to define the embryonal nature of CNS neoplasms 11. In addition, β‐catenin nucleopositive cells have been described in AT/RT 12…”

Section: Introductionmentioning

confidence: 99%

“…11 In addition, b-catenin nucleopositive cells have been described in AT/ RT. 12 The outcome of patients with AT/RT is poor compared with the outcome of patients with other pediatric cancers. The best treatment modality for this disease has not yet been established, and prognostic factors remain unknown.…”

Section: Introductionmentioning

confidence: 99%

Clinicopathologic prognostic factors in childhood atypical teratoid and rhabdoid tumor of the central nervous system

Dufour

Beaugrand

Deley

et al. 2011

Cancer

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107

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BACKGROUND:The objective of this study was to describe the clinical and pathologic features and to identify prognostic factors in patients with atypical teratoid/rhabdoid tumors (AT/RT) of the central nervous system (CNS). METHODS: Patients aged <18 years with newly diagnosed CNS AT/RT who were treated in France between 1998 and 2008 were retrospectively identified. The study included all patients who had a diagnosis of AT/RT confirmed by pathologic review, including immunostaining for INI 1, tumor protein 53 (p53), b-catenin, claudin-6, and Ki-67 and analysis for SMARCB1/hSNF5/INI1 mutation. RESULTS: Fifty-eight patients with confirmed AT/RT were eligible for the current analysis. The median age at diagnosis was 1.4 years (range, 14 days to 8.5 years). The site of the primary tumor was supratentorial in 26 patients, infratentorial in 28 patients and spinal in 4 patients. Loss of INI1 nuclear expression was observed in 49 of 50 evaluable tumors. Positive claudin-6 was observed in 37 of 42 assessed tumors and, in 12 of those tumors, the staining was strong and diffuse. Positive nuclear immunoreactivity for b-catenin was observed in 24 of 44 tumors, and P53 was overexpressed in 31 of 44 tumors. Primary adjuvant therapy included chemotherapy in 47 patients and radiotherapy in 16 patients. The median follow-up was 58 months (range, 9-125 months), and the median survival was 9 months. Multivariate analysis identified age <2 years (P ¼ .01), metastasis at diagnosis (P ¼ .03), and strong immunopositivity for claudin-6 (P ¼ .03) as prognostic factors for the risk of death. CONCLUSIONS: AT/RT tumors in children carry a dismal prognosis. Age <2 years, metastasis at diagnosis, and strong claudin-6 positivity appeared to be independent prognostic factors for outcome. Cancer 2012;118:3812-

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Atypical teratoid rhabdoid tumor mimicking beta-catenin-positive nodular medulloblastoma

Cited by 4 publications

References 4 publications

Atypical teratoid/ rhabdoid tumor, an immunohistochemical study of potential diagnostic and prognostic markers

Atypical teratoid/ rhabdoid tumor, an immunohistochemical study of potential diagnostic and prognostic markers

Atypical Teratoid/Rhabdoid Tumor Originated From the Trigeminal Nerve in a Young Male Adult: Case Report and Review of the Literature

Clinicopathologic prognostic factors in childhood atypical teratoid and rhabdoid tumor of the central nervous system

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