Pietro Ivo D'Urso

Correlative analysis of gene expression profile and prognosis in patients with gliomatosis cerebri

In modern clinical neuro‐oncology, the pathologic diagnoses are very challenging, creating significant clinical confusion and affecting therapeutic decisions and prognosis.

Intramedullary solitary fibrous tumor of dorsal spinal cord.

Solitary fibrous tumors (SFT) are rare neoplasms of mesenchymal origin involving soft tissues, mainly serosal sites; the spinal cord location is uncommon. We report a case of SFT occurring in the thoracic spinal cord, discussing histological, ultrastructural and molecular aspects. A 75‐year‐old woman with an MRI suggesting a dorsal intracanalar lesion was admitted to our institution. T5–T7 laminectomies were performed and an intramedullary tumor was discovered. The tumor arose within the spinal cord and was completely removed. Tumor samples were processed for histological, ultrastructural and molecular analysis (comparative genomic hybridization [CGH], methylation status of O6‐methylguanine–DNA methyltransferase [MGMT], p16, deleted in colorectal cancer [DCC] and death‐associated protein kinase 1 [DAPK1]). The histological examination demonstrated a proliferation of spindle‐shaped cells with a collagen‐matrix background. Immunohistochemical staining was positive for vimentin and CD34 and negative for S‐100 and epithelial membrane antigen. A histological diagnosis of SFT was made. The ultrastructural examination showed undifferentiated cells within a collagenous matrix and sparse extravascular basement membrane. CGH analysis revealed deletion of 9p21 and losses on 2q, 3p, 16q and 19q and gains on 7q; furthermore, no aberrant methylation pattern was found in the promoter region of MGMT, p16, DCC and DAPK1 genes. On the second‐year follow‐up, the patient was neurologically intact. The occurrence of SFT within the spinal cord parenchyma and its histological characteristics demonstrate that SFTs are not restricted to serosal surfaces. The course of spinal cord SFT is unknown and long‐term follow‐up is necessary. The histological, ultrastructural and molecular findings are important for the diagnosis and the authors provide a literature review of these aspects.

Cystic dilation of the ventriculus terminalis in adults

The ventriculus terminalis (VT) is a small ependyma-lined cavity within the conus medullaris that is in direct continuity with the central canal of the anterior portion of the spinal cord. Normally, such a cavity is identifiable only histologically in children and adults and can be visualized using common neuroradiological techniques only after dilation. Currently, the mechanisms of isolated dilation are not documented. The present work describes 2 cases of VT in elderly patients. Data from a histological and ultrastructural study of a case of VT dilation are reported, and the results are compared with those obtained from the VT of 5 fetuses to explain the nosological aspects of nontumoral VT lesions. Our data suggest that the site, age, and histological characteristics of the lesion allow us to define VT dilation as a nosological entity distinct from other cystic dilations of the conus medullaris.

Giant craniovertebral junction hemorrhagic schwannoma: case report.

OBJECTIVE Schwannomas located at the craniovertebral junction are rare. Intratumoral microscopic bleeding may be a common finding, but an acute hemorrhagic presentation is an unusual occurrence. CLINICAL PRESENTATION We report the case of a 44-year-old woman with acute onset of a hemorrhagic schwannoma of the C2 nerve root. INTERVENTION An emergency left far-lateral approach and a hemilaminectomy extending from C2 to C5 was performed. The tumor appeared as a dark-reddish subarachnoid mass. Tumor dissection and total removal were achieved by fragmentation and aspiration with an ultrasonic aspirator. A histological examination revealed a schwannoma with a hemorrhagic component. CONCLUSION Our case highlights the importance of early and proper management of the pathologies of the craniovertebral junction with acute onset. The suspicion of an intratumoral hemorrhagic event must be considered when an acute onset of symptoms is present, even in patients without coagulopathies.

Gliomatosis cerebri type II: two case reports

IntroductionTwo types of gliomatosis cerebri exist: Type I and Type II. We report the results of a histological and genetic study of two cases of gliomatosis cerebri Type II, correlating these results with therapy and prognosis.Case presentationTwo patients, a 52-year-old man (Patient 1) and a 76-year-old man (Patient 2) with gliomatosis cerebri II were admitted to our institution; they underwent surgical treatment and received radiotherapy and chemotherapy. At the 24-month follow-up, Patient 1 was still alive, while Patient 2 had died. The poor prognosis of Patient 2 was underlined by molecular analysis which showed that the angiogenesis related genes VCAM1 and VEGF were overexpressed, reflecting the high degree of neovascularization.ConclusionGenes involved in drug resistance and metallothioneins were highly expressed in Patient 2 and this, associated with unmethylated O6-methylguanine methyltransferase, can explain the lack of response to chemotherapy.

Pontine extension of a tentorial schwannoma without cranial nerve involvement: a case report

IntroductionIntracranial schwannomas unrelated to the cranial nerves are uncommon. We report a new case of tentorial schwannoma unrelated to the cranial nerves, with extension into the pons. A literature review with discussion of the most relevant pathogenetic aspects is also performed.Case presentationA 42-year-old Caucasian man was admitted with right-sided paresthesias and weakness of his upper and lower extremities. The neurological examination revealed right hemiparesis and hemi-hypoesthesia. A brain magnetic resonance imaging scan revealed a cerebellopontine lesion, arising from the left free edge of the tentorium, and extending into his pons. A piecemeal removal was performed through a retrosigmoid approach. The lesion was not found to be associated with any cranial nerves. The histological examination revealed a schwannoma Antoni type A. His postoperative course was uneventful. At one year follow-up, the patient was neurologically intact and the magnetic resonance imaging of his brain performed at that time showed complete removal without signs of recurrence.ConclusionTentorial schwannomas are rare clinical entities. Knowledge of their clinical, radiological and anatomical characteristics is very important for the correct diagnosis and management.

Cervicothoracic postarachnoiditic hydrosyringomyelia secondary to pedicular hook dislocation: case report

BACKGROUND Pedicular hook dislocation is a rare complication of spinal instrumentation. We report on the first case of hydrosyringomyelia secondary to intracanalar hook displacement after scoliosis surgery. CASE DESCRIPTION A 15-year-old girl presented to our institution with a 7-month history of persistent neck and occipital pain as well as numbness of the lower extremities and previous dorsolumbar instrumentation with dorsal pedicular hooks and lumbar screws. Magnetic resonance imaging showed intramedullary cystic cavity from C5 to T7, isointense to cerebrospinal fluid (CSF) on T1- and T2-weighted images. Computed tomographic scan showed intracanalar displacement of the left hook. On admission, the patient presented with mild weakness of the lower extremities, hypalgesia below the level of T4, and urinary disturbance. The patient underwent surgical hook removal, T4 laminectomy, and midline dural opening: the arachnoid membrane was found to be thick and adhered to the dura and dorsolateral spinal cord. The arachnoid scarring was dissected, and the cord was untethered. A small posterior-median myelotomy was performed, and a syringosubarachnoid catheter was placed into the subarachnoid space to restore CSF flow. CONCLUSIONS Late intracanalar displacement of spinal devices is an event that may complicate spinal instrumentation for scoliosis. This case highlights the importance of correct spinal device positioning and that of careful follow-up after instrumentation to detect complications early. We also discuss the pathogenetic pathway of the postarachnoiditic syringomyelia in this case.

Giant cell angiitis of the central nervous system with atypical presentation

Giant cell angiitis of the CNS is an uncommon form of vasculitis. Neurological manifestations, both of the peripheral and CNS, are common. The most frequent manifestations are visual loss and stroke. Hemorrhagic onset is uncommon. Most cases have a fatal outcome and a tissue diagnosis is rarely established in life. We describe an unusual case of giant cell angiitis beginning as a hemorrhagic tumoral‐like lesion. The results of the histological and ultrastructural analysis have also been reported. Our case illustrates that giant cell angiitis should be considered as a cause of intracerebral hemorrhage, particularly when associated with a relapsing and remitting disease of the CNS.