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

Al-Hussaini, Maysa; Dissi, Noreen; Souki, Cyrine; Amayiri, Nisreen

doi:10.1111/neup.12231

Cited by 11 publications

(12 citation statements)

References 54 publications

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“…1,22 In 2 different studies by Al-Hussaini et al, necrosis has been reported in 100% cases while calcification has been noted in 20% to 26% cases. 21,23 However, in the present series, necrosis was observed in 62% cases; while calcification, considered as a radiological soft clue for diagnosing AT/RT, 24 was seen in only 13% cases. Nevertheless, the discordance in the frequency for these parameters can be explained by the disparity in the sample size and with sampling bias.…”

Section: Discussioncontrasting

confidence: 67%

“…Results for expression of the epithelial and myogenic immunohistochemical markers were comparable with the series of Al-Hussaini et al 21 The IHC results for synaptophysin and GFAP were comparable too with that described in the literature. 23,27 Similar to histological divergence, immunohistochemical divergence as noted in this study is a known feature of AT/RT, which formed the basis of diagnosis before the advance and availability of IHC for INI1 protein. 3 p53 protein overexpression has been associated with poor prognosis in medulloblastoma/primitive neuroectodermal tumor 28,29 ; however, akin to this study, similar prognostic value have not been ascertained in AT/RT.…”

Section: Discussionmentioning

confidence: 55%

“…3 p53 protein overexpression has been associated with poor prognosis in medulloblastoma/primitive neuroectodermal tumor 28,29 ; however, akin to this study, similar prognostic value have not been ascertained in AT/RT. 23…”

Section: Discussionmentioning

confidence: 99%

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Atypical Teratoid/Rhabdoid Tumor: Revisiting Histomorphology and Immunohistochemistry With Analysis of Cyclin D1 Overexpression and MYC Amplification

et al. 2020

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Objectives. Atypical teratoid/rhabdoid tumor (AT/RT) is a rare malignant pediatric brain tumor, characterized by inactivation of INI1/hSNF5 gene and loss of its protein. We studied the histomorphological and immunohistochemical spectrum of this tumor including cyclin D1 expression and MYC gene amplification. Methods. Cases with INI1 loss by immunohistochemistry (IHC; from 2005 to 2018) were retrieved, reviewed, and evaluated for cyclin D1 expression by additional IHC and fluorescence in situ hybridization for MYC genes. Results. A total of 66 cases were identified. Age ranged from 1 to 20 years (≤3 years, 44 cases; >3 years, 22). Male to female ratio was 1.7:1. Tumor locations were as follows: posterior fossa: 30; supratentorial: 31; spinal: 5. AT/RT in patient ≤3 years was frequently located in the posterior fossa, composed of primitive embryonal morphology ( P = .02), rarely had ample rhabdoid cells ( P = .05), and had a negative impact on overall survival ( P = .04). The rhabdoid cells was a conspicuous component of posterior fossa tumors compared with the supratentorial ones ( P = .06). The supratentorial tumors ( P = .06), absence of rhabdoid cells ( P = .06), and the presence of immunological divergent differentiation ( P = .11) had a comparatively better outcome. Cyclin D1 overexpression (n = 46) was noted in 32 cases and was frequently seen in the posterior fossa tumors ( P = .02). CMYC (n = 42) amplification was seen in 1 case and the NMYC (n = 42) amplification in none. Conclusion. AT/RT can occur in the noninfantile age group, at nonconventional sites and frequently overexpress cyclin D1. The MYC alterations are almost nonexistent in AT/RT.

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Section: Discussioncontrasting

confidence: 67%

Section: Discussionmentioning

confidence: 55%

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Atypical Teratoid/Rhabdoid Tumor: Revisiting Histomorphology and Immunohistochemistry With Analysis of Cyclin D1 Overexpression and MYC Amplification

et al. 2020

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“…Immunohistochemistry also has potential for predicting prognosis, with one study showing association of FLI-1 and cyclin D1 immunopositivity with improved survival. 40 …”

Section: Histopathologymentioning

confidence: 99%

Atypical teratoid/rhabdoid tumors: challenges and search for solutions

Biswas¹,

Kashyap²,

Kakkar³

et al. 2016

CMAR

106

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Atypical teratoid/rhabdoid tumor (AT/RT) is a highly malignant embryonal central nervous system tumor commonly affecting children <3 years of age. It roughly constitutes 1%–2% of all pediatric central nervous system tumors. Recent data show that it is the most common malignant central nervous system tumor in children <6 months of age. Management of this aggressive tumor is associated with a myriad of diagnostic and therapeutic challenges. On the basis of radiology and histopathology alone, distinction of AT/RT from medulloblastoma or primitive neuroectodermal tumor is difficult, and hence this tumor has been commonly misdiagnosed as primitive neuroectodermal tumor for decades. Presence of a bulky heterogeneous solid-cystic mass with readily visible calcification and intratumor hemorrhage, occurring off-midline in children <3 years of age, should alert the radiologist toward the possibility of AT/RT. Presence of rhabdoid cells on histopathology and polyphenotypic immunopositivity for epithelial, mesenchymal, and neuroectodermal markers along with loss of expression of SMARCB1/INI1 or SMARCA4/BRG1 help in establishing a diagnosis of AT/RT. The optimal management comprises maximal safe resection followed by radiation therapy and multiagent intensive systemic chemotherapy. Gross total excision is difficult to achieve in view of the large tumor size and location and young age at presentation. Leptomeningeal spread is noted in 15%–30% of patients, and hence craniospinal irradiation followed by boost to tumor bed is considered standard in children older than 3 years. However, in younger children, craniospinal irradiation may lead to long-term neurocognitive and neuroendocrine sequel, and hence focal radiation therapy may be a pragmatic approach. In this age group, high-dose chemotherapy with autologous stem cell rescue may also be considered to defer radiation therapy, but this approach is also associated with significant treatment-related morbidity and mortality. Novel small molecule inhibitors hold promise in preclinical studies and should be considered in patients with relapsed or refractory tumor.

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“…WT-1 genes, PLI-1 and cyclin D1 are potential prognostic markers. (13) Interesting observation of Cerebellar Mutism Syndrome (CMS) was observed following surgery of posterior fossa tumours in children. Mutism is prominent and strokes, infections and ataxia being less common.…”

Section: Discussionmentioning

confidence: 99%

Spectrum of Posterior Cranial Fossa Space Occupying Lesions- Our Experience at a Tertiary Care Centre

Gollapalli¹,

Moula²,

Shriram³

et al. 2018

jemds

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BACKGROUND Posterior cranial fossa is located between the Foramen Magnum and Tentorium Cerebelli. It contains cerebellum, pons and medulla oblongata. Tumours of posterior cranial fossa can affect any of the above structures and can lead to pressure symptoms, neurological deficits or sometimes even death. This study has been conducted at our tertiary care centre. Aims and Objectives-To know the usefulness of intraoperative squash cytology and its diagnostic accuracy in differentiating posterior fossa lesions in correlation with clinical, radiological and histopathological diagnosis. Newer diagnostic modalities like MRI help in detecting these tumours early. Squash cytology and histopathological study diagnose these lesions accurately, which may benefit the patient for further treatment. MATERIALS AND METHODS This is a retrospective descriptive study. A total of 28 cases of posterior cranial fossa lesions were analysed with squash cytology and histopathology correlation. RESULTS Among the 28 cases analysed, 27 cases (96.4%) showed squash cytology with histopathologic correlation. A case of ependymoma was misdiagnosed as embryonal tumour/ medulloblastoma on squash cytology. Male preponderance was noted. The commonest age group was first decade in this study. Cerebellopontine angle was the most common site of the tumours in our study. CONCLUSION Analysing the posterior fossa tumours by squash cytology along with radioimaging in tumour localising and patient's demographics helped in correct histopathological diagnosis for further management and follow-up.

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

Cited by 11 publications

References 54 publications

Atypical Teratoid/Rhabdoid Tumor: Revisiting Histomorphology and Immunohistochemistry With Analysis of Cyclin D1 Overexpression and MYC Amplification

Atypical Teratoid/Rhabdoid Tumor: Revisiting Histomorphology and Immunohistochemistry With Analysis of Cyclin D1 Overexpression and MYC Amplification

Atypical teratoid/rhabdoid tumors: challenges and search for solutions

Spectrum of Posterior Cranial Fossa Space Occupying Lesions- Our Experience at a Tertiary Care Centre

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