Pediatric primary spinal atypical teratoid rhabdoid tumor: a case series and review of the literature

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Atypical teratoid rhabdoid tumors (ATRTs) are rare malignant central nervous system tumors, commonly occurring before 3 years of age. Median overall survival (OS) of patients with these tumors is about 1 year, despite aggressive multimodal therapy. Pediatric primary spinal ATRTs are even more rare, with fewer than 50 cases reported. The authors present a series of four patients who were treated at Ann and Robert H. Lurie Children’s Hospital of Chicago in the period from 1996 to 2017.

These patients, with ages 2–11 years, presented with pain and a decline in motor functions. They were found to have lesions in the lumbar, thoracic, and/or cervical spine. One patient’s tumor was intramedullary with exophytic components, while another patient’s tumor had both intra- and extradural components. All patients underwent resection followed by chemotherapy (systemic and intrathecal). Two patients had fractionated radiation therapy and one had an autologous stem cell transplant. Three patients are known to be deceased (OS 8.5–45 months). The fourth patient was in remission 19 years after her initial diagnosis. To the authors’ knowledge, this is the largest series of pediatric primary spinal ATRTs documented at a single institution. These cases illustrate a variety of presentations of spinal ATRT and add to the body of literature on this aggressive pathology.

A systematic MEDLINE search was also conducted using the keywords “atypical teratoid rhabdoid tumor,” “pediatric spinal rhabdoid tumor,” and “malignant rhabdoid tumor spine.” Reports were included for patients younger than 21 years, without evidence of intracranial or systemic disease at the time of diagnosis. Clinical characteristics and outcomes of the four institutional cases were compared to those in the literature. This review yielded an additional 48 cases of primary pediatric spinal ATRTs reported in the English-language literature. Patients (ages 2 months to 19 years) presented with symptoms of pain, regression of motor function, and spinal cord compression. The majority of tumors were intradural (14 extramedullary, 8 intramedullary, 1 both). Eleven cases in the literature described tumors limited to extradural structures, while 10 tumors involved the intra- and extradural spine. Four reports did not specify tumor location. Although rare, spinal ATRT should be considered in the differential diagnosis of pediatric patients presenting with a new spinal mass.

ABBREVIATIONS ASCR = autologous stem cell rescue; ATRT = atypical teratoid rhabdoid tumor; CNS = central nervous system; DFCI = Dana-Farber Cancer Institute; EVD = external ventricular drain; GTR = gross-total resection; IDEM = intradural extramedullary; IDIM = intradural intramedullary; OS = overall survival; PFS = progression-free survival.

Article Information

Correspondence Daphne Li: Loyola University Medical Center, Maywood, IL. daphne.li@gmail.com.

INCLUDE WHEN CITING Published online July 12, 2019; DOI: 10.3171/2019.4.PEDS19113.

Disclosures The authors report no conflict of interest concerning the materials or methods used in this study or the findings specified in this paper.

© AANS, except where prohibited by US copyright law.

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Figures

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    PRISMA flowchart depicting citations identified and evaluated for the purposes of the literature review.

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    Case 1. Preoperative sagittal T2-weighted (A), T1-weighted noncontrast FLAIR (B), and T1-weighted postcontrast (C) MRI demonstrated a heterogeneously enhancing IDIM expansile mass extending from C2 to C6 with surrounding cervical cord edema and intratumoral hemorrhage. Sagittal T2-weighted (D) and postcontrast T1-weighted FLAIR (E) imaging demonstrated postoperative changes without definite residual enhancing tumor. Interval imaging with evidence of a recurrent C6 enhancing lesion on sagittal T2-weighted (F) and sagittal and axial T1-weighted postcontrast (arrows, G and H) MRI, with restricted diffusion on a diffusion-weighted sequence (I). Interval postcontrast T1-weighted MRI (J) demonstrated new enhancement along the thoracic spinal cord, conus medullaris, and cauda equina. Interval postcontrast T1-weighted MRI (K) demonstrated a 4-mm enhancing nodule (arrow) along the right cauda equina nerve roots at approximately the L4 level. Histological examination of tumor tissue with the loss of normal nuclear INI-1 demonstrated on BAF-47 immunohistochemical staining (L) and eosinophilic cells with a rhabdoid appearance on routine H & E preparation (M). Original magnification ×40. Figure is available in color online only.

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    Case 2. Preoperative MRI of the entire spine was performed on initial presentation to an outside institution, demonstrating an IDEM lesion in the right lateral aspect of the spinal canal at the level of L1–2. The lesion demonstrated predominantly T2 hypointensity with small internal cystic areas on sagittal (A) and axial (F) T2-weighted MRI sequences. There was associated restricted diffusion on diffusion-weighted (D) and apparent diffusion coefficient (E) sequences. The lesion demonstrated mild heterogeneous contrast enhancement on sagittal precontrast T1-weighted (B) and sagittal (C) and axial (G) postcontrast T1-weighted FLAIR imaging. Axial T2-weighted (F) and T1-weighted postcontrast (G) MRI showed significant stenosis of the spinal canal at this level and displacement of the conus medullaris (arrows) to the left. Postoperative MRI of the lumbar spine demonstrated no definite residual enhancing lesion on sagittal (H) and axial (I) T2-weighted imaging and sagittal (J) and axial (K) T1-weighted postcontrast imaging. Sagittal postcontrast T1-weighted MRI of the entire spine was performed 20 months after her initial diagnosis, demonstrating several thoracic enhancing foci, with a dominant lesion along the left aspect of the spinal cord at the T6–7 level (arrow, L). A new nodularity and increased enhancement along the margins of the resection site, as well as diffusely throughout the cauda equina nerve roots, was also seen (M). Coronal (N), axial (O), and sagittal (P) postcontrast T1-weighted imaging of the brain was performed 35 months from initial diagnosis, demonstrating a prominent midline lesion likely arising from the parasagittal meninges along the cingulate gyrus distorting the corpus callosum (arrow, P). A dominant lesion involving the right cerebellopontine angle (arrow, N) is visible, as are several areas of additional leptomeningeal thickening consistent with metastatic disease (arrow, O). Figure is available in color online only.

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    Case 3. Preoperative MRI of the cervical spine with sagittal T2-weighted (A), precontrast T1-weighted (B), and postcontrast T1-weighted (C) sequences, as well as axial T2-weighted (D) and T1-weighted postcontrast (E) sequences and coronal postcontrast T1-weighted sequences through the intradural (F) and extradural (G) components. There was a heterogeneous and multilobulated mass with solid components of varying enhancement characteristics in both the spinal canal and the left paraspinal tissues, contiguous through an expanded left C7–T1 intervertebral foramen. The intraspinal component of the mass caused severe compression of the spinal cord at the cervicothoracic junction, and the extraspinal component caused mass effect upon many adjacent structures including the left vertebral artery origin, the esophagus, and the left lung apex. Two-year post-diagnosis MRI of the entire spine showed no evidence of local recurrence on sagittal T2-weighted (H) and T1-weighted postcontrast (I) sequences of the cervical spine but did show evidence of new cauda equina metastases, the largest at L3 (arrow) on sagittal (J) and axial (K) T1-weighted postcontrast sequences. Repeat MRI 2 months after GTR of the L3 lesion revealed postsurgical changes, no recurrent lesion, but a new S2 enhancing lesion (arrow) on sagittal T2-weighted (L), T1-weighted precontrast (M), and T1-weighted postcontrast (N) sequences. Brain MRI 6 months later with axial postcontrast T1-weighted sequences demonstrated a new right cerebellopontine angle mass (arrow, O) and new left internal auditory canal nodule (arrow, P). Repeat sagittal postcontrast T1-weighted MRI demonstrated a new T3 lesion (arrow, Q) and enlarging right cerebellopontine angle mass (arrow, R) despite radiation therapy. Figure is available in color online only.

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    A: Kaplan-Meier curve demonstrating OS data available from 24 of 48 cases in the literature review with extended follow-up. B: Kaplan-Meier curve demonstrating PFS data available from 16 of 48 cases in the literature review with extended follow-up. Respective time points for patients in our case series are indicated (asterisks). The patient in case 4 is not represented in these curves because she was last seen 19 years after diagnosis, alive and well without progressive disease. Figure is available in color online only.

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