Atypical Teratoid/Rhabdoid Tumor of the Spine in a 4-Year-Old Girl

Tinsa, Faten; Jallouli, Manel; Douira, W.; Boubaker, Adnen; Kchir, Nidhameddine; Hassine, D. Ben; Boussetta, K.; Bousnina, S.

doi:10.1177/0883073808319319

Cited by 15 publications

(12 citation statements)

References 8 publications

(12 reference statements)

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“…In a collaborative European effort, we collected clinical, treatment‐related, molecular, and follow‐up data of 13 patients with intramedullary spATRT. To date, spATRT have been reported only anecdotally …”

Section: Discussionmentioning

confidence: 99%

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Spinal cord atypical teratoid/rhabdoid tumors in children: Clinical, genetic, and outcome characteristics in a representative European cohort

Benesch

Nemes

Neumayer

et al. 2019

Pediatric Blood & Cancer

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Background Case reports have portrayed spinal cord atypical teratoid/rhabdoid tumor (spATRT) as an aggressive form of ATRT. We conducted a retrospective European survey to collect data on clinical characteristics, molecular biology, treatment, and outcome of children with intramedullary spATRT. Methods Scrutinizing a French national series and the European Rhabdoid Registry database, we identified 13 patients (median age 32 months; metastatic disease at diagnosis, n = 6). Systemic postoperative chemotherapy was administered to all patients; three received intrathecal therapy and six were irradiated (craniospinal, n = 3; local, n = 3). Results Median observation time was 8 (range, 1‐93) months. Progression‐free and overall survival rates at 1 and (2 years) were 35.2% ± 13.9% (26.4% ± 12.9%) and 38.5% ± 13.5% (23.1% ± 11.7%). Four patients (ATRT‐SHH, n = 2; ATRT‐MYC, n = 1; DNA methylation subgroup not available, n = 1) achieved complete remission (CR); two of them are alive in CR 69 and 72 months from diagnosis. One patient relapsed after CR and is alive with progressive disease (PD) and one died of the disease. Three patients (ATRT‐MYC, n = 2; subgroup not available, n = 1) died after 7 to 22 months due to PD after having achieved a partial remission (n = 1) or stabilization (n = 2). Five patients (ATRT‐MYC, n = 2; subgroup not available, n = 3) developed early PD and died. One patient (ATRT‐MYC) died of intracerebral hemorrhage prior to response evaluation. Conclusions Long‐term survival is achievable in selected patients with spATRT using aggressive multimodality treatment. Larger case series and detailed molecular analyses are needed to understand differences between spATRT and their inracranial counterparts and the group of extradural malignant rhabdoid tumors.

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Section: Discussionmentioning

confidence: 99%

“…In a minority of patients, ATRT involve other (e.g., ventricles) or overlapping regions of the brain . Data on spinal cord ATRT (spATRT) are scarce and limited to small case numbers included in series reporting on cerebral ATRT or are described in anecdotal case reports …”

Section: Introductionmentioning

confidence: 99%

Spinal cord atypical teratoid/rhabdoid tumors in children: Clinical, genetic, and outcome characteristics in a representative European cohort

Benesch

Nemes

Neumayer

et al. 2019

Pediatric Blood & Cancer

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“…[1][2][3][4][5][6][7][8][9][10][11][12][13][14][15][16] When found in the CNS, it usually arises from the posterior fossa and is most commonly found in children younger than 5 years of age. 17 To our knowledge, only 29 cases of primary AT/RT of the CNS in adults have been reported (On-line Table).…”

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confidence: 99%

Atypical Teratoid/Rhabdoid Tumors in Adult Patients: CT and MR Imaging Features

Han¹,

Qiu²,

Xie³

et al. 2010

AJNR Am J Neuroradiol

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SUMMARY:Primary AT/RT is a rare highly malignant tumor of the CNS, usually occurring in children younger than 5 years of age. The objective of this study was to characterize the CT and MR imaging findings in a series of 5 adult patients with pathologically proved AT/RT. All 5 AT/RTs were supratentorial. In 2 patients who underwent nonenhanced CT, the tumors appeared isoattenuated, and 1 of the 2 tumors contained calcifications. Solid portions of the tumors on MR imaging were isointense on T1-weighted, T2-weighted, and FLAIR images, and 1 case showed restricted diffusion on DWI. The tumors also demonstrated a bandlike rim of strong enhancement surrounding a central cystic area on contrast-enhanced T1-weighted imaging. One tumor was associated with destruction of the calvaria. Although AT/RTs can have nonspecific findings, the tumors in our series were large and isointense on T1-weighted, T2-weighted, and FLAIR images with central necrosis and prominent rim enhancement.ABBREVIATIONS: ADC ϭ apparent diffusion coefficient; AT/RT ϭ atypical teratoid/rhabdoid tumor; CNS ϭ central nervous system; DWI ϭ diffusion-weighted imaging; FLAIR ϭ fluid-attenuated inversion recovery; L ϭ left; mRNA ϭ messenger ribonucleic acid; N/A ϭ not available, ND ϭ not depicted; OS ϭ overall survival; PNET ϭ primitive neuroectodermal tumor; PR ϭ partial resection; R ϭ right; TR ϭ total resection A lthough AT/RT was first described as a rare, highly malignant childhood neoplasm of the kidney, it has also been reported at several extrarenal sites including the skin, chest wall, liver, thymus, optic nerve, and the CNS. [1][2][3][4][5][6][7][8][9][10][11][12][13][14][15][16] When found in the CNS, it usually arises from the posterior fossa and is most commonly found in children younger than 5 years of age.17 To our knowledge, only 29 cases of primary AT/RT of the CNS in adults have been reported (On-line Table). 18-30The On-line Table summarizes the clinical and imaging data from our patients and from those in the literature.The prognosis of patients with an AT/RT is poor, especially in patients younger than 3 years of age, with a survival time that averages 15 months in children and 38 months in adults. 10,18,19,24 To our knowledge, there are only limited case reports describing the imaging features of this entity in adults. 8,9,18,19,[21][22][23][24][25][26][27][28][29][30][31] The goal of this study was to characterize the CT and MR imaging features of CNS AT/RT in 5 adults. Materials and Methods PatientsThis study was approved by our institutional review board in accordance with standards of the National Institutes of Health. Five consecutive adult patients who received a diagnosis of AT/RT from January 2001 to October 2009 were included in the study. All patients had undergone surgical resection of their tumor and had received postoperative radiation therapy and chemotherapy. The resection specimens were collected and analyzed at 1 central pathology laboratory. Definitive diagnosis was based on histologic and immunohistochemical evaluation...

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“…Recognition of this, albeit rare, phenomenon can be leveraged to better understand the pathophysiology of AT/RT and possibly lead to earlier diagnoses. Numerous studies have described the genetic features of AT/RT [7,8,14,15] ; however, the clinical presentation of these tumors is highly variable and unpredictable, especially in children [4,5,10,16,17] . Additional descriptions of pediatric AT/RT are needed in order to recognize these tumors earlier for prompt intervention.…”

Section: Discussionmentioning

confidence: 99%

“…Histologically, AT/RT display enlarged rhabdoid cells and prominent nucleoli, while primitive neuroectodermal tumors are small and blue on hematoxylin and eosin staining [9] . The presenting clinical symptoms for spinal cord-localized AT/RT are: paresthesia, numbness, loss of bowel and bladder function, difficulty ambulating, and pain [10] . Unfortunately, AT/RT are fatal tumors, with limited responsiveness to surgical intervention, adjuvant radiation, or chemotherapy [7] .…”

Section: Introductionmentioning

confidence: 99%

A Case of a 4-Year-Old Female with a Primary Spinal Malignancy Presenting with Froin's Syndrome

Hale

Fricker²,

Crook³

2017

Pediatr Neurosurg

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We report the case of a 4-year-old female with a primary extradural intramedullary atypical teratoid/rhabdoid tumor (AT/RT) leading to a middle cerebral artery (MCA) infarct and Froin's syndrome. She presented with a 6-pound weight loss over the previous week, as well as a decreased urinary output and an altered mental status. She underwent a brain MRI that revealed a left MCA infarct, mild ventriculomegaly, and bilateral internal carotid artery, M1, and A1 stenosis. An external ventricular drain (EVD) was placed due to increased intracranial pressure. Cerebrospinal fluid (CSF) was analyzed via lumbar puncture that revealed extremely elevated protein. However, CSF sampled from the EVD was completely normal, a phenomenon called Froin's syndrome. The following day, she developed a right MCA infarct. Her grim prognosis was discussed with her family and care was eventually withdrawn. The patient underwent an autopsy which confirmed a spinal AT/RT. To our knowledge, this is the first reported case of stroke and Froin's syndrome as the initial manifestations of a primary spinal AT/RT with a late onset of spinal cord compression due to tumor obstruction.

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Atypical Teratoid/Rhabdoid Tumor of the Spine in a 4-Year-Old Girl

Cited by 15 publications

References 8 publications

Spinal cord atypical teratoid/rhabdoid tumors in children: Clinical, genetic, and outcome characteristics in a representative European cohort

Spinal cord atypical teratoid/rhabdoid tumors in children: Clinical, genetic, and outcome characteristics in a representative European cohort

Atypical Teratoid/Rhabdoid Tumors in Adult Patients: CT and MR Imaging Features

A Case of a 4-Year-Old Female with a Primary Spinal Malignancy Presenting with Froin's Syndrome

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