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

Daphne LiDepartment of Neurological Surgery, Loyola University Stritch School of Medicine, Maywood, Illinois;

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Daniel M. HeifermanDepartment of Neurological Surgery, Loyola University Stritch School of Medicine, Maywood, Illinois;

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Hasan R. SyedDepartment of Neurological Surgery, Division of Pediatric Neurosurgery, University of Virginia Health System, Charlottesville, Virginia;

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João Gustavo SantosDepartment of Neurological Surgery, University of São Paulo School of Medicine, São Paulo, Brazil;

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Robin M. BowmanDepartment of Surgery, Division of Pediatric Neurosurgery, Ann and Robert H. Lurie Children’s Hospital of Chicago; and
Departments of Neurological Surgery and

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Arthur J. DiPatri Jr.Department of Surgery, Division of Pediatric Neurosurgery, Ann and Robert H. Lurie Children’s Hospital of Chicago; and
Departments of Neurological Surgery and

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Tadanori TomitaDepartment of Surgery, Division of Pediatric Neurosurgery, Ann and Robert H. Lurie Children’s Hospital of Chicago; and
Departments of Neurological Surgery and

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Nitin R. WadhwaniPathology, Northwestern University Feinberg School of Medicine, Chicago, Illinois

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Tord D. AldenDepartment of Surgery, Division of Pediatric Neurosurgery, Ann and Robert H. Lurie Children’s Hospital of Chicago; and
Departments of Neurological Surgery and

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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.
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