A Rare Adult Primary Intracranial Sarcoma, -Mutant Identified by Epigenomic Profiling: A Case Report.

Diagnoses of primary malignant mesenchymal brain tumors are a challenge for pathologists. Here, we report the case of a 52-year-old man with a primary brain tumor, histologically diagnosed as a high-grade glioma, not otherwise specified (NOS). The patient underwent two neurosurgeries in several months, followed by radiotherapy and chemotherapy.

Evaluation of Gene Methylation in Neuroendocrine Neoplasms.

Unresectable neuroendocrine neoplasms (NENs) often poorly respond to standard therapeutic approaches. Alkylating agents, in particular temozolomide, commonly used to treat high-grade brain tumors including glioblastomas, have recently been tested in advanced or metastatic NENs, where they showed promising response rates. In glioblastomas, prediction of response to temozolomide is based on the assessment of the methylation status of the gene, as its product, -methylguanine-DNA methyltransferase, may counteract the damaging effects of the alkylating agent.

Pituitary magnetic resonance imaging bilateral inferior petrosal sinus sampling: comparison between non-invasive and invasive diagnostic techniques for Cushing's disease-a narrative review.

Cushing's syndrome is a pathological clinical condition caused by an exposure of elevated cortisol levels over a long period of time. It is therefore essential to establish what the cause of hypercortisolism is. In most cases (about 80%) the pathological process is due to adrenocorticotropic hormone (ACTH), while in a minor part of the cases (about 20%) the cause is represented by a pathology of the adrenal glands and therefore not related to ACTH.

Next generation sequencing identifies novel potential actionable mutations for grade I meningioma treatment.

Meningiomas are common brain tumors that arise from the meningeal membranes that envelope the brain and spinal cord. The World Health Organization classifies these tumors into three histopathological grades. Because of tumor recurrence, treating meningiomas may be challenging even in well-differentiated grade I (GI) neoplasms.

Prediction of high proliferative index in pituitary macroadenomas using MRI-based radiomics and machine learning.

Purpose: Pituitary adenomas are among the most frequent intracranial tumors. They may exhibit clinically aggressive behavior, with recurrent disease and resistance to multimodal therapy. The ki-67 labeling index represents a proliferative marker which correlates with pituitary adenoma aggressiveness.

B-cell central nervous system lymphoma developing in a patient with cerebral meningioangiomatosis.

Meningioangiomatosis is a rare congenital hamartomatous malformation of the leptomeninges that can also involve the adjacent cerebral tissue, sometime arising in association with neurofibromatosis. Here we report the case of a 55-year-old man with neuroradiological evidence of meningioangiomatosis, known to be a well-defined malformative-dysplastic lesion, preceding the onset of central nervous system B-cell lymphoma. We describe for the first time this unusual association, highlighting how meningioangiomatosis could accompany different pathologies more frequently than thought.

A regulatory role for the co-chaperone FKBP51s in PD-L1 expression in glioma.

Background: FKBP51 is a co-chaperone with isomerase activity, abundantly expressed in glioma. We previously identified a spliced isoform (FKBP51s) and highlighted a role for this protein in the upregulation of Programmed Death Ligand 1 (PD-L1) expression in melanoma. Because gliomas can express PD-L1 causing a defective host anti-tumoral immunity, we investigated whether FKBP51s was expressed in glioma and played a role in PD-L1 regulation in this tumour.

PATZ1 is a new prognostic marker of glioblastoma associated with the stem-like phenotype and enriched in the proneural subtype.

Glioblastoma (GBM), the most malignant of the brain tumors, has been classified on the basis of molecular signature into four subtypes: classical, mesenchymal, proneural and neural, among which the mesenchymal and proneural subtypes have the shortest and longest survival, respectively. Here we show that the transcription factor gene is upregulated in gliomas compared to normal brain and, among GBMs, is particularly enriched in the proneural subtype and co-localize with stemness markers. Accordingly, in GBM-derived glioma-initiating stem cells (GSCs) PATZ1 is overexpressed compared to differentiated tumor cells and its expression significantly correlates with the characteristic stem cell capacity to grow as neurospheres .

Innate immunity may play a role in growth and relapse of chordoid meningioma.

Chordoid meningioma (CM) is a rare subtype of meningioma, which represents only 0.5% of all meningiomas. It is classified as Grade II according to the World Health Organization classification because of its tendency to relapse.

Posterior fossa tumors in infants and neonates.

Introduction: Management of posterior fossa tumors in infants and neonates is challenging. The characteristics of the young babies make surgery very difficult, sometimes precluding a safe complete removal.

Methods: A review of the literature was undertaken to examine the incidence, histology, surgical aspects, and prognosis of posterior fossa tumors in the first year of life.

Hypomorphic NOTCH3 mutation in an Italian family with CADASIL features.

The cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) is because of NOTCH3 mutations affecting the number of cysteine residues. In this view, the role of atypical NOTCH3 mutations is still debated. Therefore, we investigated a family carrying a NOTCH3 nonsense mutation, with dominantly inherited recurrent cerebrovascular disorders.

Cervical extradural "en-plaque" meningioma.

Objective: Spinal meningiomas with concurrent extradural localization and "en-plaque" growth are exceptional, with only five reported cases in the literature. We report another case and discuss the peculiar diagnostic and surgical features of this very unusual pattern of growth.

Case Report: A 74-year-old woman was observed because of a rapidly progressive tetraparesis, more marked in the left arm.

22-year-old girl with status epilepticus and progressive neurological symptoms.

A 22-year-old girl presented with convulsive status epilepticus and a previous history of recurrent seizures, myoclonus, ataxia and impaired cognitive functions. Neurological examination revealed rest and action-induced myoclonus, pyramidal signs and opposition hypertonia. Testing revealed severe metabolic acidosis, elevated transaminases and creatine kinase, and respiratory insufficiency.

Effect of treatment with depot somatostatin analogue octreotide on primary hyperparathyroidism (PHP) in multiple endocrine neoplasia type 1 (MEN1) patients.

Background: In patients with multiple endocrine neoplasia type 1 (MEN1), expression of somatostatin receptor (SST) in parathyroid adenomas and effectiveness of therapy with somatostatin analogues on primary hyperparathyroidism (PHP) have been scarcely investigated.

Objective: To evaluate the effects of depot long acting octreotide (OCT-LAR) in patients with MEN1-related PHP.

Patients: Eight patients with a genetically confirmed MEN1, presenting both PHP and duodeno-pancreatic neuroendocrine tumours (NET), were enrolled.

Typical progression of myoclonic epilepsy of the Lafora type: a case report.

Background: A 20-year-old woman presented to a specialist epilepsy center with a 3-year history of drug-resistant epileptic seizures, progressive myoclonus, ataxia, and cognitive decline.

Investigations: Neurological examination, neuropsychological testing, electrophysiological studies, skin biopsy, MRI, genetic testing, and autopsy.

Diagnosis: Lafora disease (EPM2), resulting from a homozygous missense mutation in EPM2B (NHLRC1; c205C>G; Pro69Ala).

Lhermitte-Duclos disease.

A 46-year-old female patient with previously recognized Graves' ophthalmopathy, underwent total thyroidectomy. After thyroid surgery exophthalmos worsened and signs unsteadiness of gait appeared. Magnetic resonance imaging showed a lesion in the basal portion of the left cerebellar hemisphere.

Dopamine receptor expression and function in human normal adrenal gland and adrenal tumors.

Dopamine is known to play a role in the modulation of aldosterone and catecholamine secretion from the adrenal gland, where dopamine receptors (DR), in particular the DR type 2 (D(2)), have been found to be expressed. DR expression has also been demonstrated in some types of benign adrenal tumors. The aims of the current study were to evaluate DR expression and D(2) localization in the normal adrenal gland and in different types of benign and malignant adrenal tumors, as well as to evaluate the in vitro effects of the dopamine agonists bromocriptine and cabergoline on hormone secretion in nontumoral adrenal cells.

Dopamine receptor expression and function in corticotroph pituitary tumors.

The role of dopamine agonist treatment in corticotroph pituitary tumors is controversial. The aim of this study was to evaluate D(2) receptor expression in 20 corticotroph pituitary tumors and to correlate it to the in vitro effect of dopamine agonists on ACTH secretion and the in vivo effect of short-term cabergoline treatment on cortisol secretion. D(2) expression was evaluated by receptor-ligand binding, immunohistochemistry, and RT-PCR.

Chondroma of the petrous apex.

The clinicopathological features of a chondroma of petrous apex area examined with magnetic resonance (MRI) are presented. The extreme rarity of the location, the MRI aspect, and the surgical strategy based upon MRI studies make this case noteworthy.