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Open AccessClinical and Molecular Characteristics of Gonadotroph Pituitary Tumors According to the WHO Classification
Since 2017, hormone-negative pituitary neuroendocrine tumors expressing the steroidogenic factor SF1 have been recognized as gonadotroph tumors (GnPT) but have been poorly studied. To further characterize thei...
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Article
Open AccessCompartments in medulloblastoma with extensive nodularity are connected through differentiation along the granular precursor lineage
Medulloblastomas with extensive nodularity are cerebellar tumors characterized by two distinct compartments and variable disease progression. The mechanisms governing the balance between proliferation and diff...
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Article
Open AccessIntracranial mesenchymal tumor with (novel) COX14::PTEN rearrangement
Mesenchymal tumors of the central nervous system (CNS) include numerous entities, with different pathological features and biological behavior. Mesenchymal non-meningothelial tumors are rare and comprise neopl...
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Article
Malignant meningioma mTOR mutated and precision medicine
WHO grade II and III meningiomas are more invasive than grade I malignancies and determine patients’ shorter overall survival. Their tendency to recur after treatment has represented an important therapeutic c...
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Article
Alternative Lengthening of Telomeres (ALT) and Telomerase Reverse Transcriptase Promoter Methylation in Recurrent Adult and Primary Pediatric Pituitary Neuroendocrine Tumors
Neoplastic cells acquire the ability to proliferate endlessly by maintaining telomeres via telomerase, or alternative lengthening of telomeres (ALT). The role of telomere maintenance in pituitary neuroendocrin...
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Article
Open AccessMiR-1248: a new prognostic biomarker able to identify supratentorial hemispheric pediatric low-grade gliomas patients associated with progression
Pediatric low-grade gliomas (pLGGs), particularly incompletely resected supratentorial tumours, can undergo progression after surgery. However to date, there are no predictive biomarkers for progression. Here,...
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Article
Atypical teratoid/rhabdoid tumor in adults: a systematic review of the literature with meta-analysis and additional reports of 4 cases
Atypical teratoid/rhabdoid tumor (AT/RT) is a highly aggressive embryonal CNS neoplasm, characterized by inactivation of SMARCB1 (INI1) or rarely of SMARCA4 (BRG1). While it is predominantly a childhood tumor,...
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Article
A rare case of spinal epidural sarcoidosis: case report and review of the literature
Sarcoidosis is a rare systemic disease characterized by growth and organization of inflammatory cells in a granuloma. Granulomas can localize in any parts of the human body. The main localization is represente...
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Article
Open AccessEvidenza RMN di metastasi ipofisaria isolata da carcinoma polmonare
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Article
Characterization of primary glioma cell lines derived from the patients according to 2016 CNS tumour WHO classification and comparison with their parental tumours
Gliomas represent about 80% of primary brain tumours and about 30% of malignant ones, which today don’t have a resolution therapy because of their variability. A valid model for the study of new personalized t...
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Article
Reduced-dose craniospinal irradiation is feasible for standard-risk adult medulloblastoma patients
Medulloblastoma is the most common malignant brain tumor in children, but accounts for only 1% of brain cancers in adults. For standard-risk pediatric medulloblastoma, current therapy includes craniospinal irr...
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Article
Open AccessCombination of chemotherapy and PD-1 blockade induces T cell responses to tumor non-mutated neoantigens
Here, we developed an unbiased, functional target-discovery platform to identify immunogenic proteins from primary non-small cell lung cancer (NSCLC) cells that had been induced to apoptosis by cisplatin (CDDP...
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Article
Open AccessModeling medulloblastoma in vivo and with human cerebellar organoids
Medulloblastoma (MB) is the most common malignant brain tumor in children and among the subtypes, Group 3 MB has the worst outcome. Here, we perform an in vivo, patient-specific screen leading to the identific...
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Article
The molecular landscape of ETMR at diagnosis and relapse
Embryonal tumours with multilayered rosettes (ETMRs) are aggressive paediatric embryonal brain tumours with a universally poor prognosis1. Here we collected 193 primary ETMRs and 23 matched relapse samples to inv...
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Article
Rosette-forming glioneuronal tumors share a distinct DNA methylation profile and mutations in FGFR1, with recurrent co-mutation of PIK3CA and NF1
Rosette-forming glioneuronal tumor (RGNT) is a rare brain neoplasm that primarily affects young adults. Although alterations affecting the mitogen-activated protein kinase (MAPK) and phosphoinositide 3-kinase ...
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Article
Infundibuloneurohypophysitis associated with autoimmune thrombocytopenia and chiasmal syndrome: a case report
Lymphocytic hypophysitis is an uncommon autoimmune disease. It may involve the adenohypophysis, neurohypophysis and pituitary stalk. It is most often encountered in pregnant women. Its diagnosis and management...
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Article
Open AccessClustered protocadherins methylation alterations in cancer
Clustered protocadherins (PCDHs) map in tandem at human chromosome 5q31 and comprise three multi-genes clusters: α-, β- and γ-PCDH. The expression of this cluster consists of a complex mechanism involving DNA hub...
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Article
Telomere elongation via alternative lengthening of telomeres (ALT) and telomerase activation in primary metastatic medulloblastoma of childhood
Elongation of telomeres is necessary for tumor cell immortalization and senescence escape; neoplastic cells use to alternative pathways to elongate telomeres: telomerase reactivation or a telomerase-independen...
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Article
18F-DOPA uptake does not correlate with IDH mutation status and 1p/19q co-deletion in glioma
The role of amino acid positron emission tomography (PET) in glioma grading and outcome prognostication has not yet been well established. This is particularly true in the context of the new WHO 2016 classific...
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Article
Open AccessMolecular markers and potential therapeutic targets in non-WNT/non-SHH (group 3 and group 4) medulloblastomas
Childhood medulloblastomas (MB) are heterogeneous and are divided into four molecular subgroups. The provisional non-wingless-activated (WNT)/non-sonic hedgehog-activated (SHH) category combining group 3 and g...