Abstract

Background: Rhabdomyosarcoma (RMS) is a malignant childhood tumor that most commonly involves the skeletal muscles of the head and neck, genitourinary tract, limbs, and, rarely, the spine.

Case Description: A 19-year-old male presented with cauda equina symptoms. Magnetic resonance imaging showed a C7/T1 homogeneously enhancing lesion, causing pathological fracture of the T1. Similar lesions were found on T3 and S1-S2 levels. CT-guided biopsy and immunohistochemistry confirmed the diagnosis of highly malignant alveolar RMS. He underwent multi-level laminectomies with partial tumor debulking but was paraplegic postoperatively.

Conclusion: Spinal RMS rarely involves the soft tissues of the spine and should be surgically resected if feasible. Nevertheless, the long-term prognosis is poor regarding tumor recurrence and metastases.

Keywords: Chemotherapy, Neurosurgery, Radiotherapy, Rhabdomyosarcoma, Spine

INTRODUCTION

Rhabdomyosarcoma (RMS) is a malignant tumor originating from mesenchymal cells that commonly occur in the head and neck region, followed by the genitourinary tract and extremities but rarely the spine of children. It is the third most common extracranial tumor after Wilms’ tumor and neuroblastoma. It occurs in 4–7 cases/one million children under the age of 15 years/per year. Sixty-five percentages of cases are diagnosed in children before age six, with very few reported in adults.[ 2 , 9 ] Here, we summarized our diagnosis and management of a 19-year-old male with multifocal spinal RMS and previously reported cases in the literature in [ Table 1 ]. Included cases were supplemented by reports summarized by Wang et al. added in the supplementary material of their paper.

Table 1:

Summary of our case and the previously reported cases of spinal rhabdomyosarcoma.

CASE PRESENTATION

A 19-year-old male presented with a 1-month onset of numbness/weakness in both hands and progressive low back pain, gait disturbance, and 4 days of urinary incontinence. On examination, he exhibited mild quadriparesis.

Investigations

Magnetic resonance imaging (MRI) studies demonstrated multifocal involvement of the spine, likely due to metastases. The cervical MRI showed a right anterolateral preverbal/vertebral C7/T1 homogeneously enhancing lesion, a pathologic fracture of the T1 body, and epidural compression [ Figure 1 ]. A similar lesion was found at the S1-S2 level, contributing to the cauda equina compression [ Figure 2 ]. A third small lesion was found in the right T3 vertebral pedicle [ Figure 1 ]. The differential diagnoses included multifocal spinal lymphoma versus multiple metastases.

Figure 1:

Cervical and dorsal magnetic resonance imaging in sagittal T2-weighted sequence (a) and T1-weighted sequence with gadolinium (b and d), and in axial T2-weighted sequence at the level of the first dorsal vertebra (c). It shows the pathologic fracture of the latter with the epidural extension of the rhabdomyosarcoma (a and b), also the prevertebral right-sided part of the tumor (star) and its anterior bilateral invasion of the canal causing cord compression (arrows). Note the infiltration of the right pedicle and lower facet of the third dorsal vertebra (d arrow).

Figure 2:

Lumbosacral magnetic resonance imaging in sagittal cuts T1-weighted sequence (a), T2-weighted sequence (b), and T1 with gadolinium (c), and axial cut T2-weighted sequence, focused on the sacrum. It shows the tumor starting in the pre-sacral space (star), infiltrating the sacrum mainly to the left ala with sacral canal invasion and gluteal muscle infiltration (d arrows).

CT-guided biopsy

A CT-guided biopsy of the sacral lesion confirmed the diagnosis. Furthermore, the immunohistochemistry revealed a highly malignant RMS [ Figure 3 ]. The primary spinal origin of the RMS was confirmed by negative CT scans of the chest, abdomen, and pelvis.

Figure 3:

Photomicrographs of our patient (a) with H-E staining, magnification ×20, showing high cellular proliferation of primitive round cells with nested and alveolar patterns. (b) immunohistochemistry study, showing extensive nuclear positivity of tumor cells to myogenin.

Management

Before the initiation of planned chemotherapy/radiation, the patient abruptly developed paraplegia and underwent multilevel decompressive laminectomies for partial debulking of the cervicodorsal and sacral lesions. He remained paraplegic postoperatively and failed to improve over the next 2 months.

DISCUSSION

RMS is the most common soft-tissue sarcoma in the pediatric population, accounting for approximately 5% of all pediatric cancers.[ 5 , 9 ] RMS is the third most common type of extracranial solid tumor found in children, following Wilms’ tumor and neuroblastoma.[ 4 ] The peak incidence occurs in children under the age of six. Primary spinal RMS can occur in any section of the spine, from the cervical to the sacral region; however, the lumbar region is the most common site of involvement.[ 8 ] Primary spinal RMS is exceedingly rare; 20% experience distant metastases, primarily in the lungs (39%), bone marrow (32%), lymph nodes (30%), and bones (27%).[ 1 ] Symptoms/signs associated with RMS reflect the involved spinal levels. The diagnosis of RMS is based on clinical, radiographic, and histopathologic studies.

Radiographic

CT and MRI are the most commonly used imaging modalities in evaluating RMS; however, the findings are variable and non-specific for RMS.[ 8 ] The lesion is typically hypointense to iso-intense on T1-weighted images and hyperintense on T2-weighted images while enhancing homogeneously with contrast material in all reported cases. The primary RMS usually infiltrates the vertebral bodies and invades the spinal cord, eventually resulting in pathological fractures associated with cord compression.[ 3 , 6 ]

CT-guided biopsy/pathology

CT-guided biopsy or surgical excision can obtain tissue sampling for the histopathologic examination. According to the current World Health Organization classification, RMS is classified into four subtypes: Embryonal, spindle cell, alveolar, and pleomorphic. The embryonal type is the most common in primary RMS. However, in metastatic RMS, the alveolar subtype is typically found. The alveolar type represents 20% of RMS cases and is associated with a poorer prognosis.[ 3 , 7 , 8 ]

Management

Treatment typically involves a combination of surgery, radiation therapy, and chemotherapy. At present, there is no consensus on the most effective treatment. Few studies have documented the efficacy of surgery in managing spinal RMS. Wang et al. evaluated 11 primary and secondary RMS cases with posterior locations (eight of the 11 cases); complete surgical resection and spinal fixation with adjuvant radiotherapy provided a longer median overall survival versus palliative surgery/conservative treatment. Therefore, surgery is recommended to treat spinal RMS to reduce the neoplastic mass and allow for a better response to radiation therapy and chemotherapy.[ 6 , 8 ]

Radiation therapy is indicated after surgery to eliminate all residual tumor cells and reduce the risk of local recurrence. Chemotherapy is typically given before or after surgery or in combination with radiation therapy.[ 2 ]

CONCLUSION

RMS is a malignant tumor that is exceedingly rare in the spine. Here, a 19-year-old male with primary multifocal/metastatic spinal RMS (C7/T1, T3, and S1/S2) developed paraplegia before radiation and/or chemotherapy could be instituted.

Declaration of patient consent

Patient’s consent not required as patient’s identity is not disclosed or compromised.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.

Disclaimer

The views and opinions expressed in this article are those of the authors and do not necessarily reflect the official policy or position of the Journal or its management. The information contained in this article should not be considered to be medical advice; patients should consult their own physicians for advice as to their specific medical needs.

References

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