Atypical teratoid rhabdoid tumor in childhood, 15 cases of a single institute experience

Al-hussaini, Maysa; Dissi, Noreen; Al-jumaily, Usama; Swaidan, Maisa

doi:10.5146/tjpath.2014.01157

Cited by 5 publications

(12 citation statements)

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“…A total of 25 cases were identified; however, paraffin blocks were only available for 19 cases, which constituted the study population, including 10 males and nine females. Cases 1, 2, 4‐11 and 17 were previously reported . The median age at diagnosis was 24 months (mean 30.5 months and range 6‐108 months), with 10 (52.6%) cases being 24 months or younger.…”

Section: Resultsmentioning

confidence: 86%

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: Resultsmentioning

confidence: 86%

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

et al. 2015

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“…11,22,23 In their cohort, Al-Hussaini et al identified a small cell component in 13 of 15 cases (86.7%), and none of the cases studied was composed exclusively of rhabdoid cells. 11 As such, it is crucial for pathologists to recognize these small cells in CSF samples because these cells confer a more aggressive clinical behavior than other primitive tumors. 12,24 One interesting observation is the identification of a micronucleus, an additional small nucleus adjacent to the main nucleus, in rare cases of AT/RT (Fig.…”

Section: Discussionmentioning

confidence: 95%

“…Instead, a small cell component was observed in 57.5% of the cases. Several other studies have also noted the presence of a small cell component and discussed the diagnostic challenge of differentiating AT/RT from medulloblastoma and PNET . In their cohort, Al‐Hussaini et al identified a small cell component in 13 of 15 cases (86.7%), and none of the cases studied was composed exclusively of rhabdoid cells .…”

Section: Discussionmentioning

confidence: 99%

“…Several other studies have also noted the presence of a small cell component and discussed the diagnostic challenge of differentiating AT/RT from medulloblastoma and PNET . In their cohort, Al‐Hussaini et al identified a small cell component in 13 of 15 cases (86.7%), and none of the cases studied was composed exclusively of rhabdoid cells . As such, it is crucial for pathologists to recognize these small cells in CSF samples because these cells confer a more aggressive clinical behavior than other primitive tumors …”

Section: Discussionmentioning

confidence: 99%

“…10 In many cases, there is also a prominent population of small nonrhabdoid cells. 11 Some tumor cells have a nonrhabdoid phenotype, with less striking nuclear atypia and large amounts of pale eosinophilic cytoplasm. 10 Because AT/RT remains a difficult diagnosis to make based on histopathology alone, it is sometimes misdiagnosed as medulloblastoma, primitive neuroectodermal tumor (PNET), choroid plexus carcinoma, anaplastic ependymoma, gemistocytic astrocytoma, or oligodendroglioma.…”

Section: Introductionmentioning

confidence: 99%

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Cytologic characterization of atypical teratoid/rhabdoid tumor in cerebrospinal fluid

Huang

Guzmán

Girolami

et al. 2014

Cancer Cytopathology

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BACKGROUND: Atypical teratoid/rhabdoid tumor (AT/RT) is a rare and highly aggressive intracranial malignancy with a predilection to spread along the cerebrospinal fluid (CSF) pathways. To the authors' knowledge, the cytopathologic characteristics of this tumor have not been extensively studied in CSF. Herein the authors report CSF cytomorphology from a series of patients with histologically documented AT/RT. METHODS: A retrospective review of 40 malignant CSF specimens from 10 patients with histologically confirmed AT/RT was conducted. All the patients were female and ranged in age from 0.8 to 19.6 years at the time of the initial diagnosis (median age, 1.3 years). Cytospin preparations were reviewed. In the majority of cases, at least 2 slides were prepared with the Wright-Giemsa and/or Papanicolaou stains. RESULTS:The CSF samples were predominantly moderately to highly cellular (80%). The 3 most common features were eccentrically placed nuclei (72.5%), prominent nucleoli (70%), and large tumor cells (67.5%). Two principal malignant cell types were noted; the most striking and recognizable form was a large, usually rhabdoid cell with an eccentrically placed nucleus, prominent nucleolus, and abundant cytoplasm, which was observed in 47.5% of the cases. The second type had a small cell appearance and was noted in 57.5% of the cases. Both large rhabdoid and small malignant cells were reported in 25% of the cases.

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Atypical Teratoid Rhabdoid Tumor in a Child: Case Report

et al. 2015

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Atypical teratoid/rhabdoid tumor (ATRT) is a rare and aggressive type of embryonal tumor of the central nervous system (CNS) occurring in childhood. The present study aims to describe the case of a 16-year-old girl who presented with an occipital mass lesion that was diagnosed as ATRT. We present a brief review of the current knowledge of the treatment of this rare neoplasm. A previously healthy 16-year-old girl was referred after two episodes of partial complex seizure 2 weeks before admission. MRI showed a right parieto-occipital lesion with homogeneous contrast-enhancing and significant surrounding brain edema. The patient underwent uneventful surgical resection of the lesion and was discharged home on the fifth postoperative day. Pathologic examination revealed it to be ATRT. The patient was referred to chemotherapy and radiotherapy. After 6 months of follow-up, the patient remains free of seizure and disease progression. ATRT is a rare and aggressive disease. Therefore, early diagnosis and treatment may improve the patient's prognosis and quality of life. Palavras-chave► tumor teratoide rabdoide atípico (TTRA) ► criança ► tumor embrionário ResumoO tumor teratoide rabdoide atípico (TTRA) é um tipo de neoplasia rara, com comportamento maligno, que atinge o sistema nervoso central (SNC) de crianças. O objetivo do presente estudo é relatar o caso de uma paciente de 16 anos de idade admitida no nosso serviço com uma lesão occipital que revelou tratar-se de TTRA em estudo anatomopatológico. Uma paciente previamente hígida foi admitida no nosso serviço referindo ocorrência de dois episódios de crises convulsivas nas últimas 2 semanas. A ressonância magnética de crânio mostrou a presença de lesão occipital direita com captação homogênea do meio de contraste. A paciente foi submetida a cirurgia de ressecção da lesão expansiva sem intercorrências. A análise histopatológica

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Atypical teratoid rhabdoid tumor in childhood, 15 cases of a single institute experience

Cited by 5 publications

References 0 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

Cytologic characterization of atypical teratoid/rhabdoid tumor in cerebrospinal fluid

Atypical Teratoid Rhabdoid Tumor in a Child: Case Report

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