Peripheral primitive neuroectodermal tumor of the cervical spine

BACKGROUND: Primitive neuroectodermal tumor (PNET) is a malignant neoplasm that generally arises from bone and soft tissues, with predilection for young adults. This neural crest origin tumors share biologic and histologic features with Ewing's sarcoma (ES). CASE DESCRIPTION: We present a case of a 22-year-old woman with history of severe progressive neck pain, without radiation, associated with paresthesia in the right arm, and palpable right posterior cervical mass. Neurological examination showed increased reflexes in all four limbs, bilateral Hoffman's sign, right Babinski's sign, and right hemi-hypoesthesia. Neuroimaging revealed a right posterior cervical lesion with heterogeneous contrast enhancement extending to the neural foramina of the atlas and axis. Patient underwent microsurgical removal of the lesion, and histopathological and immunohistochemical analysis confirmed the diagnosis of peripheral primitive PNET (pPNET). The patient had adjuvant treatment with radiotherapy and chemotherapy. After twelve months, neuroimaging showed no signs of tumor regrowth and the patient had no neurological deficits. However, three months later, the patient developed hydrocephalus and cerebrospinal fluid (CSF) was positive for neoplastic cells. No other treatment was administered and the patient died. CONCLUSION: pPNET is a rare malignant tumor with poor prognosis, although promising results with multimodal treatment-surgery, radiotherapy, and chemotherapy. Diagnosis requires immunohistochemical analysis, with identification of neuronal differentiation markers.