Disease/Disorder
Definition
Spinal cord tumors are rare central nervous system (CNS) tumors that involve the primary spinal cord, spinal meninges, or cauda equina. Unlike in adults, spinal cord tumors in children are usually primary tumors, not metastases.
Etiology
Multifactorial changes at the cellular level are just beginning to be described. In different anatomical locations, the same histopathological phenotype may have different tumor biology. Malignant transformation at the molecular level is not well understood in children.
Epidemiology including risk factors and primary prevention
Compared to adults, spinal cord tumors in pediatrics have lower incidences and have different histologic features, sites of origin, and responses to treatment. Although CNS tumors are the most common solid tumor in the United States, spinal cord tumors account for 1-2% of all childhood CNS tumors.1 Due to their rarity, comprehensive epidemiologic studies have been challenging in children.
In children and adolescents (age 0-19), the incidence of primary tumors of the CNS is 6.13 per 100,000. In the overall population, the 5- and 10-year survival rate after being diagnosed with a tumor of the spinal cord proper or cauda equina is 93.0% and 91.2%, respectively.2 There are not well reported survival rates for the pediatric population. The average age of diagnosis for pediatric spinal cord tumors is 9.8 years and has a higher incidence in Caucasians. Patient’s will also frequently have premorbid or comorbid conditions.3
Primary spinal cord tumors can be broadly classified by anatomical sub-location4
- Intradural Intramedullary: Most common, primarily astrocytomas and ependymomas
- Extradural: Primary spinal column tumors or metastatic tumors
- Intradural Extramedullary: Least common, primarily meningioma and nerve sheath tumors
Common pediatric spinal tumor histologic subtypes include2
- Ependymal Tumors (18.5%)
- Nerve Sheath Tumors (17.6%)
- Mesenchymal Tumors (14.7%)
- Other Astrocytic Tumors (13.1%)
- Neuronal/Mixed Neuronal-Glial (5.7%)
Glial tumors, which include astrocytomas and ependymomas, are by far the most common pediatric spinal cord tumors and most of these tumors are malignant.5 Metastatic tumors are very rare in children and may occur as drop metastases from brain tumors, unlike in adults, where most common spinal cord tumors are metastatic.4
Patho-anatomy/physiology
Pediatric spinal cord tumors are classified by the type of tissue involved, anatomical location, and growth/invasiveness. Tumor grade and histology directly affect prognosis, as some tumors are better resected than others. Malignant transformation of pediatric low-grade gliomas is very unusual compared to those in adults.6 Radiation therapy may generate malignant transformation by accelerating a tumor’s natural tendency towards dedifferentiation or by engendering a de novo high-grade tumor.
Disease progression including natural history, disease phases or stages, disease trajectory (clinical features and presentation over time)
Spinal cord tumors have diverse presentations based on location and age of the patient. Regardless of tumor type, back pain is the most common presenting symptom. As this can fluctuate over time and be attributed to other sources (specifically to growth in children), there is often a delay in diagnosis. Pain of the bony segment directly over the tumor or “spine pain” is the most common presenting complaint in children. The onset of back pain may be over months. Notably, back pain is uncommon in pediatrics, and therefore should always be thoroughly investigated.
Other classic presenting symptoms include abnormal gait or coordination difficulties, progressive spinal deformity, focal and progressive motor weakness, and muscle rigidity with spasm. Sensory deficits are seen more rarely.5 Motor and muscular deficits can be seen in young non-verbal patients as delayed milestones. Symptoms of bowel and bladder dysfunction are usually later to occur after significant progression.4
Long-term motor and sensory deficits are often seen in children following intramedullary spinal cord tumor (IMSCT) resection. In a long-term assessment of 164 children who underwent IMSCT resection:
- 1/3 experienced improvements in motor, sensory and urinary dysfunction years after resection.
- 2/3 experienced long-term dysesthetic symptoms that impacted their quality of life.
- Independent risk factors for long-term dysesthesia include increasing age, preoperative symptom duration >12 months, and worsening postoperative neurological symptoms.7
Survival depends on the histology and grade of the spinal cord tumor. For example, high-grade intramedullary astrocytomas have a dismal prognosis; median survival rate is reported to be 13 months in children despite aggressive treatment. On the other hand, the prognostic outlook for low-grade ependymoma is relatively favorable.8
Specific secondary or associated conditions and complications
Neurofibromatosis is associated with spinal cord tumors, specifically low grade gliomas. Orthopedic complications, most often severe kyphoscoliosis, occur in 35% of children treated for low-grade spinal gliomas.9 Treatment related complications may also occur including radiation myelopathy from radiation over the spinal cord or the vertebral column.1
Essentials of Assessment
History
- Ask about neurological deficits, both motor and sensory
- Evaluate for dysphagia, neurogenic bowel and bladder, spasticity, scoliosis, and cord compression
- Take a detailed pain history
- Ask about the child’s or adolescent’s current schooling, academic progress, and family’s expectations on return to school post-rehabilitation
- Take a detailed social history to determine family support, home setting, and need for ramps, doorway modifications, or other structural modifications. If environmental modifications or computer-aided environmental control systems are indicated, evaluate for financial resources, as these items are generally not covered by insurance or Medicaid.
- Detail the child’s social role and social support system. Ask about members of the child’s family, as well as details of the home, school, and recreational environment.
Physical examination
Check for palpable tenderness over the involved bony segment. Often it is most painful directly over the tumor.
Perform a complete neuromuscular exam: evaluate for motor strength, coordination, reflexes, vibration, proprioception, light and sharp touch.
Complete an American Spinal Injury Association (ASIA) assessment, keeping in mind the child’s developmental age and need for modesty (see the ISNCSCI Exam Pediatric Brochure at https://asia-spinalinjury.org/information/download/).
Check for the presence of scoliosis/kyphosis and their flexibility.
Functional assessment
- Functional Independence Measure (FIM) and Functional Independence Measure for Children (WeeFIM) (available at https://www.udsmr.org/)
- Pediatric Evaluation of Disability Inventory (PEDI) (available at https://www.pearsonassessments.com/)
- Karnofsky Performance Scale (KPS): used by oncologists; standard measure of cancer patient’s ability to perform ordinary tasks (see http://www.npcrc.org/files/news/karnofsky_performance_scale.pdf).
- Pediatric Quality of Life Inventory (PedsQL) (available at http://www.pedsql.org).
- Modified McCormick Scale (mMS) – used by some neurosurgical studies to determine pre- and postoperative neurological function: (see https://www.nature.com/articles/sc200851/tables/1).
Laboratory studies
In addition to World Health Organization (WHO) grading, histological and molecular verification of the tumor is paramount to pathological diagnosis. Immunohistochemistry, such as SOX-10 staining, can help with glial tumor differentiation, as this stain is different in ependymomas and astrocytomas.10 Information on the underlying genetic abnormalities in pediatric diffuse gliomas allows better separation of these tumors from similar adult versions.5 Cerebral spinal fluid (CSF) studies are generally helpful to rule out other causes of spinal cord lesions, such as infection, but are not diagnostic for intramedullary tumors. See the section on treatment for further guidelines.
Imaging
MRI of the spinal cord and/or brain with and without gadolinium enhancement is the imaging modality of choice for the preoperative evaluation of spinal cord tumors. Intraoperative imaging may also decrease the need for further surgery. Imaging also plays a role in detecting tumor-caused hydrocephalus, syringomyelia, scoliosis, and other complications.3
Early predictions of outcomes
Early diagnosis of spinal cord tumors is most favorable.11 Patients with spinal cord tumors often experience a long interval from symptom onset to diagnosis, which can lead to significant neurologic deficits due to tumor invasion or make resection more challenging.12 Due to frequent delay in diagnosis, lumbar sacral tumors often have an unfavorable prognosis by the time they are discovered.13
Tumor grade and the extent of surgical resection predict outcome.9
- Most astrocytomas are low grade and surgically curable if they can be completely resected.3
- Patients with astrocytomas and hemangioblastomas are more likely to undergo subtotal resection because of their indistinct borders.
- Ependymomas, schwannomas, and especially meningiomas are typically totally resected because of their well-defined borders.
- Ependymomas occurring in the lower half of the spinal cord have a worse prognosis; ependymomas occurring in the upper half of the spinal cord recur later and less frequently, with little or no mortality.14
Tumor recurrence usually indicates a very poor prognosis.8
Low FIM or WeeFIM scores correlate with severe neurological deficits at diagnosis, such as paraparesis, but not with tumor histology or localization, age at diagnosis, pre-diagnostic symptomatic interval, or the management of spinal cord compression.
Environmental
(see History section)
Social role and social support system
Ask about members of the child’s family and details of the home, school, and recreational environment. Peer mentorship, including a formalized parent-to-parent mentoring program, can be especially beneficial in supporting families by decreasing anxiety and social isolation.15
Rehabilitation Management and Treatments
Available or current treatment guidelines
The acute management of pediatric spinal cord tumors usually involves surgical resection plus chemotherapy and/or radiation therapy. Radiation and chemotherapy are generally added when a complete resection is not possible, though the treatment is not standardized.4 Post surgical and oncologic management, inpatient versus outpatient rehabilitation recommendations may depend on the prognosis of the tumor (stage, types of treatment recommended), functional status change, goals of care and function and family needs.
General considerations for inpatient rehabilitation include:
- Stable vital signs, with the absence of fever.
- Platelet levels greater than 50,000 to avoid bleeding with exercise.
- The need for isolation can be a barrier in children with low absolute neutrophil counts (ANC). As such, these children and adolescents may be better served with private therapies until they are more stable and ready for intensive inpatient rehabilitation.
Children and adolescents with spinal cord tumors and their families will need ongoing counseling and psychological support throughout the treatment process.
Management at different disease stages:
The goals of rehabilitation are to maximize function through individualized therapy programs, education of compensatory strategies, and provision of equipment, while improving the quality of life and reducing caregiver burdens.
Preventive Phase
- Rarely encountered.
- Goals are to maintain or improve strength and aerobic capacity.
Treatment Phase
- Individualized interdisciplinary therapy programs are designed.
- Physiatrists manage spasticity, neuropathic and musculoskeletal pain.
- Rehabilitation team provides patients and families with neurogenic bowel and bladder programs.
- Gait aids, lower limb orthoses, and mobility devices are used to maximize mobility.
- Functional or resting upper limb orthoses may be needed to maximize function or prevent deformity.
- Assistive devices are provided to maximize independence in self-care and higher-level ADLs.
- Swallow assessments for patients with signs or symptoms of dysphagia.
- Nutritional assessment for optimal weight management and recovery is essential.
- Early rehabilitation post-surgical resection has been shown to improve functional outcomes and should be considered.16
Surveillance Phase
- Outpatient therapy programs are designed to condition, strengthen, and maximize return to home, recreation, and school environments
- Physiatrists play a key role in monitoring for new or worsening functional deficits which could be signs of disease progression or recurrence
Terminal or Palliative Phase
- There continue to be attainable functional goals and rehabilitation can be critical in building skills which maintain quality of life.
- The focus in this phase is often on symptom control, family education, and additional assistive devices and medical equipment.
- Coordination with the Palliative Care Team is essential.
Coordination of care
Interdisciplinary care is crucial and often involves pediatric physiatrists, rehabilitation nursing, physical therapists, occupational therapists, speech therapists, rehabilitation psychologists, cognitive and/or educational specialists, nutritionists, art and music therapists, social workers, case managers, child life specialists, and chaplains. Support from consulted or treating neurosurgeons, pediatric oncologists, radiation oncologists, pediatric neuroradiologists, pediatric pharmacologists, and other pediatric tumor experts is essential.
Patient & family education
Clinicians should educate patients and their families about postsurgical outcomes and the role of rehabilitation in helping to improve neurological function. After spinal cord tumor resection, most patients function independently. However, functional impairments are not uncommon, especially in those presenting with advanced tumor progression.11 Most often children may have lower limb weakness and abnormal tone. Involving a rehabilitation team to address equipment and orthotic needs, therapy needs and possible medication for managing hypertonia and/or pain is essential to maximize function and quality of life. Engaging school by educating them on the new diagnosis, discussing potential establishment of 504 plan or an IEP plan is essential to facilitate return to school.1
Additional resources
- American Childhood Cancer Organization (national resource for free webinars, face-to-face support groups; https://www.acco.org/)
- Childhood Cancer International (international resource, https://www.childhoodcancerinternational.org)
Emerging/unique interventions
Intraoperative use of Motor Evoked Potentials to predict the functional effects of resecting sections of tumors on or near the spinal cord or nerve roots is continuing to be explored and refined.17
Translation into practice: practice “pearls”/performance improvement in practice (PIPs)/changes in clinical practice behaviors and skills
Communicate regularly with oncological, neurosurgical, and orthopedic specialists to maximally manage patient care. Unique rehabilitation services may be needed at different disease stages, and early rehabilitation should be considered post-surgery. Additionally, counseling, especially family counseling, should be offered to help children, siblings, and parents adjust and cope with possible changing disabilities and end-of-life cares.
Cutting Edge/Emerging and Unique Concepts and Practice
Modern advances in microsurgical techniques have allowed greater and more aggressive resection of spinal cord tumors. Intra-operative muscle and epidural electrode motor evoked potentials (MEPs) best guide the degree of resection.17 Targeted and conformal radiotherapy techniques and adjuvant chemotherapy have reduced the doses of craniospinal radiotherapy administered. Immunotherapy trials for pediatric brain and spinal cord tumors are also being investigated.18 Databases of currently ongoing clinical trials can be viewed at www.clinicaltrials.gov and www.curesearch.org.
In 2021, the WHO revised its classification of Tumors of the Central Nervous System suggested the importance of integrated diagnoses and layered reports utilizing molecular diagnostics, histology and immunohistochemistry. The new WHO system also introduces new tumor types and subtypes, some based on novel diagnostic technologies such as DNA methylome profiling. This updated classification emphasizes the role of molecular diagnostics in CNS tumor classification. For example, spinal ependymomas can further subcategorized based on molecular changes including NF2, MYCN changes.19
Gaps in the Evidence-Based Knowledge
A recent scoping review had highlighted that pediatric spinal cord tumor only compromised 3.5% of the clinical trials since 1989 and none of them was specific to primary pediatric spinal cord tumors, concerning for underrepresentation. Future trials dedicated on pediatric spinal cord tumor would be essential to further advance our knowledge in pediatric spinal cord tumors.20
References
- Kaplan N, Kwok C, Alejandro RE, Berlin H. Rehabilitation of the Child with Brain and Spinal Cord Cancer. In: Cristian A, editor. Central Nervous System Cancer Rehabilitation, Elsevier; 2019, p. 107–20.
- Quinn T Ostrom*, Mackenzie Price*, Corey Neff, Gino Cioffi, Kristin A Waite, Carol Kruchko, Jill S Barnholtz-Sloan, CBTRUS Statistical Report: Primary Brain and Other Central Nervous System Tumors Diagnosed in the United States in 2016–2020, Neuro-Oncology, Volume 25, Issue Supplement_4, October 2023, Pages iv1–iv99, https://doi.org/10.1093/neuonc/noad149
- Wilson PE, Oleszek JL, Clayton GH. Pediatric spinal cord tumors and masses. J Spinal Cord Med 2007;30 Suppl 1:S15–20. https://doi.org/10.1080/10790268.2007.11753963.
- Binning M, Klimo P, Gluf W, Goumnerova L. Spinal Tumors in Children. Neurosurg Clin N Am 2007;18:631–58. https://doi.org/10.1016/j.nec.2007.07.001.
- Huisman TAGM. Pediatric tumors of the spine. Cancer Imaging 2009;9 Spec No A:S45–8. https://doi.org/10.1102/1470-7330.2009.9012.
- Winograd E, Pencovich N, Yalon M, Soffer D, Beni-Adani L, Constantini S. Malignant transformation in pediatric spinal intramedullary tumors: case-based update. Childs Nerv Syst 2012;28:1679–86. https://doi.org/10.1007/s00381-012-1851-4.
- McGirt MJ, Chaichana KL, Atiba A, Attenello F, Yao KC, Jallo GI. Resection of intramedullary spinal cord tumors in children: assessment of long-term motor and sensory deficits. J Neurosurg Pediatr 2008;1:63–7. https://doi.org/10.3171/PED-08/01/063.
- Houten JK, Cooper PR. Spinal cord astrocytomas: presentation, management and outcome. J Neurooncol 2000;47:219–24. https://doi.org/10.1023/a:1006466422143.
- Scheinemann K, Bartels U, Huang A, Hawkins C, Kulkarni AV, Bouffet E, et al. Survival and functional outcome of childhood spinal cord low-grade gliomas. Clinical article. J Neurosurg Pediatr 2009;4:254–61. https://doi.org/10.3171/2009.4.PEDS08411.
- Kleinschmidt-DeMasters BK, Donson AM, Richmond AM, Pekmezci M, Tihan T, Foreman NK. SOX10 Distinguishes Pilocytic and Pilomyxoid Astrocytomas From Ependymomas but Shows No Differences in Expression Level in Ependymomas From Infants Versus Older Children or Among Molecular Subgroups. J Neuropathol Exp Neurol 2016;75:295–8.
- Crawford JR, Zaninovic A, Santi M, Rushing EJ, Olsen CH, Keating RF, et al. Primary spinal cord tumors of childhood: effects of clinical presentation, radiographic features, and pathology on survival. J Neurooncol 2009;95:259–69. https://doi.org/10.1007/s11060-009-9925-1.
- Dybedokken A, Mathiesen R, Hasle H, Herlin T, Callesen MT, Hansen SH, Jensen LH, Amstrup J, Hagstrøm S, Brix N. Musculoskeletal misdiagnoses in pediatric patients with spinal tumors. Pediatr Blood Cancer. 2024 Jul;71(7):e31024. doi: 10.1002/pbc.31024. Epub 2024 May 6. PMID: 38706386.
- Koshimizu H, Nakashima H, Ando K, Kobayashi K, Nishimura Y, Machino M, Ito S, Kanbara S, Inoue T, Yamaguchi H, Segi N, Tomita H, Imagama S. Patient factors influencing a delay in diagnosis in pediatric spinal cord tumors. Nagoya J Med Sci. 2022 Aug;84(3):516-525. doi: 10.18999/nagjms.84.3.516. PMID: 36237887; PMCID: PMC9529625.
- Oh MC, Sayegh ET, Safaee M, Sun MZ, Kaur G, Kim JM, et al. Prognosis by tumor location for pediatric spinal cord ependymomas: Clinical article. J Neurosurg Pediatr 2013;11:282–8. https://doi.org/10.3171/2012.11.PEDS12292.
- Berry-Carter K, Barnett B, Canavera K, Baker JN, Mandrell BN. Development of a Structured Peer Mentoring Program for Support of Parents and Caregivers of Children with Cancer. J Pediatr Nurs 2021;59:131–6. https://doi.org/10.1016/j.pedn.2021.03.031.
- Kose N, Muezzinoglu K, Bilgin S, Karahan S, Isikay I, Bilginer B. Early rehabilitation improves neurofunctional outcome after surgery in children with spinal tumors. Neural Regeneration Res 2014;9:129. https://doi.org/10.4103/1673-5374.125340.
- Antkowiak L, Putz M, Sordyl R, Pokora S, Mandera M. Predictive Value of Motor Evoked Potentials in the Resection of Intradural Extramedullary Spinal Tumors in Children. J Clin Med. 2022 Dec 21;12(1):41. doi: 10.3390/jcm12010041. PMID: 36614841; PMCID: PMC9821272.
- Vitanza NA, Johnson AJ, Wilson AL, Brown C, Yokoyama JK, Künkele A, et al. Locoregional infusion of HER2-specific CAR T cells in children and young adults with recurrent or refractory CNS tumors: an interim analysis. Nat Med 2021:1–9. https://doi.org/10.1038/s41591-021-01404-8.
- Louis DN, Perry A, Wesseling P, Brat DJ, Cree IA, Figarella-Branger D, Hawkins C, Ng HK, Pfister SM, Reifenberger G, Soffietti R, von Deimling A, Ellison DW. The 2021 WHO Classification of Tumors of the Central Nervous System: a summary. Neuro Oncol. 2021 Aug 2;23(8):1231-1251. doi: 10.1093/neuonc/noab106. PMID: 34185076; PMCID: PMC8328013.
- Villanueva OP, Papadakis JE, Mosher AM, Cooney T, Fehnel KP. The disparity in pediatric spinal cord tumor clinical trials: A scoping review of registered clinical trials from 1989 to 2023. Neurooncol Pract. 2024 May 17;11(5):532-545. doi: 10.1093/nop/npae041. PMID: 39279782; PMCID: PMC11398943.
Original Version of the Topic
Colleen A. Wunderlich, MD. Pediatric spinal cord tumors. 9/20/2013.
Previous Revision(s) of the Topic
Colleen A. Wunderlich, MD. Pediatric spinal cord tumors. 3/29/2017.
Mi Ran Shin, MD, Spencer Brodsky, MD, Olga Morozova, MD. Pediatric Spinal Cord Tumors. 12/1/2021
Author Disclosure
Mi Ran Shin, MD, MPH
Nothing to Disclose
Olga Morozova, MD
Nothing to Disclose
Elizabeth LaFrance, MD
Nothing to Disclose