Two novel tumours with NTRK2 fusion in the methylation class of extraventricular neurocytomas, including one intraventricular.

We report here about two novel tumours classified as extraventricular neurocytomas (EVN) using DNA-methylation profiling, associated with NTRK2 fusions instead of the usual FGFR1 alterations so far attributed to this tumoural entity. We present the second detailed case of an intraventricular presentation in the MC EVN. Our findings broaden the spectrum of MC EVN and have implications in terms of diagnosis, therapy and terminology.

Central Neurocytoma with Extensive Intratumoral Hemorrhage: A Case Report.

BACKGROUND Central neurocytoma (CN) is a rare neuronal tumor of neuroepithelial origin. It has been assigned to World Health Organization classification grade 2. These tumors are usually benign and located in the anterior half of the lateral ventricle, though they can also be found in the third and fourth ventricles. Left untreated, a CN can cause blockage of cerebrospinal fluid, thus leading to hydrocephalus. CNs are exceedingly uncommon, making up just 0.1-0.5% of primary intracranial tumors. The tumors typically develop in people aged 20 to 40. There are no official guidelines on how to treat CN, so treatment options are often individualized on the basis of specific case findings. CASE REPORT A 39-year-old man with an uncomplicated medical history presented with dizziness, increasingly worse headaches, presyncope, and a loss of appetite. Radiological data and postoperative histopathological and histochemical analysis led to the diagnosis of CN with extensive intratumoral hemorrhage. Surgical resection of the tumor was proposed to the patient, to which he agreed. CONCLUSIONS CN is a benign tumor, but it can cause serious or life-threatening complications. Gross total resection of the tumor is recommended if possible, and if deemed beneficial to the patient's clinical condition. This case reports the symptoms of a patient with CN, who underwent gross total resection and showed no sign of any residual tumor tissue on postoperative MRI. By reporting these types of cases, we can take necessary steps ahead of widespread agreement on optimal treatment of patients with neurocytomas.

Organic bipolar disorder secondary to central neurocytoma resection: a case report.

entral neurocytoma is a neuroepithelial tumor described by Hassoun in 1982, predominantly located in the midline at the level of the septum pellucidum, or in the lateral ventricles wall1. They represent approximately 50% of intraventricular lesions in adults, and they are in total 0.25-0.5% of intracranial tumors.

Olfactory neurocytoma as a unique cause of chronic SIADH.

A 32-year-old man was found to have a nasal mass on DOTATATE positron emission tomography (PET) scan to investigate the cause of his syndrome of inappropriate antidiuretic hormone secretion (SIADH). The patient presented 6 years earlier with malignant hypertension followed by a second emergency admission for hyponatraemia. Multiple scans and blood tests over 6 years yielded no cause for his SIADH. Nasendoscopy was unremarkable. A PET scan prompted endoscopic sinus surgery which resulted in the resection of a mass in the anterior hiatus semilunaris. The histological findings were fitting with a diagnosis of a neurocytic-type tumour favouring an olfactory neurocytoma. Following resection, the patient remains well and is cured of his SIADH. An olfactory neurocytoma although rare should be considered as a benign differential for a mass in the nasal space. This case demonstrates how an olfactory neurocytoma can present as a cause of SIADH.

The Purely Endoscopic Supracerebellar Infratentorial Approach for Resecting Pineal Region Tumors with Preservation of Cerebellomesencephalic Vein: Technical Note and Preliminary Clinical Outcomes.

BACKGROUND: The cerebellomesencephalic vein (CMV) was frequently sacrificed in surgery approached via the supracerebellar infratentorial (SCIT) route for resecting pineal region tumors, which resulted in potential risk of neurologic deficit. Preserving the CMV in the SCIT approach could enhance the safety and effectiveness of this natural corridor surgery. The aim of this article was to identify the probability and safety of preserving the CMV through the application of neuroendoscopy in the SCIT approach. METHODS: Clinical data of patients who underwent pineal region tumor resection through a purely endoscopic SCIT approach were retrospectively analyzed, focusing on surgical techniques and clinical outcomes. RESULTS: The study included 8 patients with pineal region tumors. The CMV was preserved intact in all patients. Total tumor removal was achieved in 7 of 8 patients. In 1 patient with 2 tumors in the pineal region and roof of the third ventricle, the tumor in the pineal region was resected completely, followed by subsequent chemotherapy combined with radiotherapy, after which the other tumor disappeared totally. All patients recovered normally with uneventful postoperative outcomes. CONCLUSIONS: The advantage of close observation and panoramic view provided by neuroendoscopy combined with meticulous manipulation improved the ability to preserve the CMV in resecting pineal region tumors via the SCIT approach. The neuroendoscopic technique enhances the safety and efficacy of the SCIT approach.

Hypothalamic Vasopressin-Producing Tumors: Often Inappropriate Diuresis But Occasionally Cushing Disease.

Tumors of hypothalamic neurons that produce vasopressin are rare. We retrieved all cases of vasopressin-positive tumors in the sellar region from the database of the Department of Pathology. Five cases fulfilled the selection criteria, representing the first series of such tumors. Clinical, radiologic, and pathologic features were reviewed. Four tumors classified as neurocytomas were identified in 3 females and 1 male patient; the ages at onset of symptoms ranged from 17 to 40 years. All were large sellar masses with suprasellar extension and/or invasion of the parasellar sinuses. Three patients had the syndrome of inappropriate antidiuresis; in one of these, a 6-year history was initially considered to be idiopathic. One patient died of progressive disease; 3 had incomplete resections and are being followed. In contrast to these patients with neurocytoma, a 65-year-old woman had Cushing disease and a 0.8 cm mass that was completely resected at transsphenoidal surgery; this tumor was a gangliocytoma producing vasopressin associated with corticotroph hyperplasia. We postulate that the small amount of vasopressin secreted by this mature gangliocytic tumor was locally bound to corticotrophs, resulting in hyperplasia and Cushing disease, without sufficient overproduction to cause systemic effects of vasopressin excess. Hypothalamic neurocytoma is a tumor that can mimic pituitary neuroendocrine tumors and olfactory neuroblastoma but is distinguished by positivity for neurofilaments, NeuN, and TTF-1 and negative staining for adenohypophysial biomarkers. Our cases illustrate that neurocytoma and gangliocytoma are 2 variants of tumors of hypothalamic neurons that can produce vasopressin. The morphologic and proliferative features of these 2 tumor types represent 2 ends of a spectrum; their function also can result in divergent clinical manifestations, one characterized by reduced urine output and the other by the more insidious features of glucocorticoid excess.

Paranoid Syndrome as the First Sign of Central Neurocytoma: A Case Report.

Central neurocytoma (CN), first described in 1982 by Hassoun and colleagues, is a rare tumor accounting for 0.25% to 0.5% of all tumors of the central nervous system. The tumor is a neoplasm of neuroepithelial origin, with intermediate malignancy (WHO grade II), detectable with both computed tomography and magnetic resonance imaging. Complete excision of the tumor gives favorable long-term results, with infrequent recurrences and/or metastases. Only 3 previous cases in which CN presented with co-occurring psychotic symptoms were found in the PubMed database. This report presents the case of a 27-year-old patient with paranoid syndrome without neurological symptoms, in whom magnetic resonance imaging confirmed a large intracranial tumor located predominantly in the right lateral ventricle and third ventricle reaching down to the hypothalamus. Resection of the tumor (histopathologically a CN) resulted in complete remission of the psychotic symptoms. This case supports the need for neuroimaging in all patients with first-episode psychosis because of the possibility of neurologically silent brain tumors. Quick diagnosis in such cases is crucial for the selection of treatment methods and prognosis.

Amenorrhoea and reversible infertility due to obstructive hydrocephalus: literature review and case report.

BACKGROUND: Endocrine abnormalities are well-recognized consequences of intracranial pathology such as pituitary tumours. Less commonly, hydrocephalus may lead to dysfunction of the endocrine system, presenting as amenorrhoea or precocious puberty. We present a case report and literature review of hydrocephalus causing endocrine abnormalities including reversible infertility. CASE DESCRIPTION: A 34 year-old female presented with amenorrhoea and infertility. MRI showed a third ventricular mass and hydrocephalus. The amenorrhoea resolved within weeks of endoscopic third ventriculostomy and tumour biopsy; pregnancy ensued within 6 months. Thirty-two cases of hydrocephalus-related amenorrhoea were reported between 1915 and 2007. All patients who underwent modern hydrocephalus treatment experienced partial or complete resolution of endocrine dysfunction. Successful pregnancy was reported in three patients, as in our case presentation. While mechanisms of dysfunction have not been completely elucidated, studies point toward loss of GnRH pulsatility due to compression of the medio-basal hypothalamic structures. CONCLUSION: Hydrocephalus can cause endocrine dysfunction, including amenorrhoea, which may reverse with CSF diversion. Therefore, cranial imaging is an important component in the evaluation of such endocrine abnormalities.

Spontaneous intracerebral hemorrhage as presentation of atypical central neurocytoma: the role of angiogenesis through the characterization of tumor endothelial cells.

A 36-year-old white man presented with sudden-onset headache and rapid deterioration of consciousness. Computer tomography revealed a right capsular intra-parenchimal hemorrhage with an intraventricular component; therefore, emergency surgery was performed. Once the hematoma was evacuated, the cause of the hemorrhage was identified as a tumor mass and it was resected. Histopathological and immunohistochemical examinations of the surgical specimen disclosed a diagnosis of atypical central neurocytoma. By using a protocol recently set up in our laboratory, we succeeded in isolating and propagating, for the first time, human endothelial cells from central neurocytoma (CN-ECs). Different analyses revealed that isolated CN-ECs consist of a pure endothelial cell population, with the expression of endothelial markers (CD31, CD309/VEGFR2, CD105, eNOS) and with angiogenic properties, such as the uptake of LDL. Moreover, CN-ECs spontaneously organize in a vascular-like structure. The goal of this case report is to stress the need for further studies focused on understanding the causes of the onset of an intra-parenchimal hemorrhage in the presence of an atypical central neurocytoma in order to tailor treatments to each single patient and achieve the best clinical outcome.

Pediatric Basal Ganglia Region Tumors: Clinical and Radiologic Features Correlated with Histopathologic Findings.

PURPOSE: To summarize the clinical and radiologic features of pediatric basal ganglia region tumors (PBGRT) in correlation with their histopathologic findings to reduce inappropriate surgery and identify tumors that can benefit from maximal safe resection. METHODS: The records of 35 children with PBGRT treated in our hospital from December 2011 to December 2015 were analyzed retrospectively. The clinical and radiologic features of these tumors were summarized and correlated with their histopathologic diagnosis. RESULTS: Our series included 15 astrocytomas and 11 germ cell tumors (GCTs). Basal ganglia astrocytomas were characterized by various clinical presentations and an ill-circumscribed mass with the involvement of surrounding structures on neuroimaging and mostly occurred in the first decade of life (n = 10; 66.7%). Basal ganglia GCT mostly occurred in the second decade of life (n = 8; 72.7%) with hemiparesis as the most common symptom (n = 9; 81.8%). The tumors were located predominantly in the caput of caudate nucleus (n = 8; 72.7%) with hemiatrophy as the typical sign (n = 8; 72.7%). Occasionally, other tumors also could occur in this region, including primitive neuroectodermal tumor (n = 1), atypical teratoid/rhabdoid tumor (n = 1), anaplastic ependymoma (n = 1), lymphoma (n = 1), extraventricular neurocytoma (n = 1), gangliogliomas (n = 2), oligodendroglioma (n = 1), and dysembryoplastic neuroepithelial tumor (n = 1). CONCLUSIONS: Astrocytoma and GCT are the most common PBGRTs. Low-grade astrocytomas could benefit from maximal surgical resection, whereas GCTs merit neoadjuvant chemoradiation therapy followed by second-look surgery. We advocate routine testing of tumor markers and analysis of their clinical and radiologic features to optimize the therapeutic strategy.

Ventricular Central Neurocytoma: Rate of Shunting and Outcome 2 Years After Total and Subtotal Excision.

BACKGROUND: Central neurocytoma is an intraventricular tumor that affects young adults. It has a favorable prognosis after adequate surgical intervention; however, an aggressive course may take place in some cases. OBJECTIVE: The objective of the study was to evaluate the rate of shunting and the outcome of control measures in patients with central neurocytoma submitted to total and subtotal excision. METHODS: Twelve patients were included in this study, with a follow-up of 24 months. Data collected included: age, sex, clinical presentation, early morbidity and mortality, radiological findings (tumor location, features, residual, recurrence, and hydrocephalus). All patients underwent surgery for total or subtotal excision through a transcortical approach. External Ventricular Drain (EVD) was inserted then removed or replaced by a shunt. Histopathology and the MIB index were used to confirm diagnosis and guide the follow-up; adjuvant radiotherapy or Gamma Knife radiosurgery were used for residual tumor or recurrence. RESULTS: The ages of the patients ranged from 14 to 48 years. Two patients died early, after total and subtotal excision, from sepsis and thalamic infarction, respectively. Six patients (60 %) had a total excision; two of them had a high MIB index and showed small recurrence at 12 months and 18 months, respectively, and received Gamma Knife radiosurgery. One of the six patients with total excision needed a shunt, and no shunt was needed in the four otherpatients; a subtotal excision was done for four patients (40 %). An early shunt was inserted for two of these patients, radiosurgery-controlled for one patient, while radiotherapy was used for control in the other three patients; radiotherapy control failed in one patient, who underwent a second surgery at 18 months. CONCLUSION: Central neurocytoma may have a favorable prognosis, with a lower incidence of shunt insertion throughout its course than that for other intraventricular tumors, if total removal is achieved.

Episodic ventriculomegaly due to hypernatremia mimicking shunt malfunction: case report.

Patients with shunted hydrocephalus presenting with altered mental status and ventriculomegaly are generally considered to be in shunt failure requiring surgical treatment. The authors describe a case of shunted hydrocephalus secondary to a disseminated neuroectodermal tumor in a pediatric patient in whom rapid fluctuations in sodium levels due to diabetes insipidus repeatedly led to significant changes in ventricle size, with invasively confirmed normal shunt function and low intracranial pressure. This clinical picture exactly mimics shunt malfunction, requires urgent nonsurgical therapy, and underscores the importance of considering serum osmolar abnormalities in the differential diagnosis for ventriculomegaly.

Behavioral disorders as unusual presentation of pediatric extraventricular neurocytoma: report on two cases and review of the literature.

BACKGROUND: Extraventricular neurocytomas (EVNs) are rare parenchymal brain tumors, distinct from central neurocytomas that are typically located within the supratentorial ventricular system. Seizures and headache represent the most common symptoms of extraventricular neurocytomas in the cerebral hemisphere both in adult and pediatric population. CASE PRESENTATION: We describe two cases of pediatric EVN with clinical onset characterized by behavioral and attention deficit/ hyperactivity disorders. The association between behavioral/attention disorders in childhood and the presence of a frontal neurocytoma has never been described before. Furthermore, inappropriate levels of inattention, hyperactivity and impulsivity are common among the neurobehavioral and developmental disorders in childhood. We reviewed 43 pediatric cases of extraventricular neurocytoma included in the PubMed database and their clinical presentation, and we never found this unusual relationship. CONCLUSION: In childhood, the attention/hyperactivity disorders seem to be often over-diagnosed. When these deficits are more subtle and do not well-fit in a specific neurocognitive disorder, the clinicians should have a suspicion that they might mask the clinical features of a frontal lesion. This paper is focused on the clinical presentation of the extraventricular neurocytoma and the possible organic etiology of an attention and hyperactivity deficit.

Mesial temporal extraventricular neurocytoma: a rare cause of refractory complex partial seizure.

AIM: Mesial temporal extraventricular neurocytoma (mtEVN) is a rare cause of refractory complex focal seizures. The characteristics of this clinical entity are discussed in this article. METHODS: We report two cases of mtEVN and review the related literature, with particular emphasis on radiological characteristics, clinical features, and operative techniques. RESULTS: After successful surgery, our two cases of mtEVN achieved excellent outcome. Including the cases presented here, a total of three cases of mtEVNs and 11 of neocortical temporal extraventricular neurocytoma (ntEVNs) are reported in the literature. mtEVNs are distinct from ntEVNs with regards to demographics, aetiology, radiological features, and operative techniques. CONCLUSION: mtEVNs and ntEVNs exhibit distinguishing features. Under electrocorticographic monitoring, tailored resection of the neocortical epileptogenic focus, as well as the entire tumour and mesial temporal structures, can yield excellent outcome and satisfactory seizure control.

Extraventricular neurocytoma of the sellar region with spinal dissemination.

Extraventricular neurocytoma (EVN) is a rare tumor that mainly occurs in the cerebral hemispheres and spinal cord. Sellar neurocytoma is extremely rare, with only two previously reported cases. We report a sellar EVN in a 48-year-old man presenting with visual impairment. This tumor was partially resected. The residual tumor disappeared on MRI with adjuvant radiotherapy. However, 2 years later the tumor recurred with craniospinal dissemination, which is also very rare, with only four previously reported cases. The recurrent tumor showed atypical features with an MIB-1 LI score of 3 %. It is suggested that postoperative adjuvant radiation therapy with long-term follow-up is required for incompletely resected EVN.