Pubblicazioni Scientifiche

Marzo 2025 Articolo in rivista peer-reviewed
Neuroradiology

Use of amide proton transfer (APT) imaging in the differentiation of pediatric low-grade brain tumors from tumor-like brain lesions

Metodi diagnostici

Ramaglia et al.

Giugno 2023 Articolo in rivista peer-reviewed
Neuro-Oncology

Clinical outcome of pediatric medulloblastoma patients with Li-Fraumeni syndrome

Indagini genetiche

Kolodziejczak et al.

Novembre 2022 Articolo in rivista peer-reviewed
BMC Pediatrics

Early molecular diagnosis of BRAF status drives the neurosurgical management in BRAF V600E-mutant pediatric low-grade gliomas: a case report

Metodi diagnostici

Piccolo et al.

Gennaio 2022 Articolo in rivista peer-reviewed
Quantitative Imaging in Medicine and Surgery

Calcifications in diffuse leptomeningeal glioneuronal tumors: a case series

Biologia tumorale

Rebella et al.

Ottobre 2020 Articolo in rivista peer-reviewed
Theranostics

Correlation of multimodal 18F-DOPA PET and conventional MRI with treatment response and survival in children with diffuse intrinsic pontine gliomas

Metodi diagnostici

Morana et al.

Abstract

To evaluate the contribution of 18F-dihydroxyphenylalanine (DOPA) PET in association with conventional MRI in predicting treatment response and survival outcome of pediatric patients with diffuse intrinsic pontine gliomas (DIPGs).

Methods: We retrospectively analyzed 19 children with newly diagnosed DIPGs who underwent 18F-DOPA PET/CT and conventional MRI within one week of each other at admission and subsequent MRI follow-up. Following co-registration and fusion of PET and MRI, 18F-DOPA uptake avidity and extent (PET tumor volume and uniformity) at admission, along with MRI indices including presence of ring contrast-enhancement, tumor volume at admission and at maximum response following first-line treatment, were evaluated and correlated with overall survival (OS). The association between 18F-DOPA uptake tumor volume at admission and MRI tumor volume following treatment was evaluated. Statistics included Wilcoxon signed-rank and Mann-Whitney U tests, Kaplan-Meier OS curve and Cox analysis.

Results: DIPGs with a 18F-DOPA uptake Tumor/Striatum (T/S) ratio >1 presented an OS ≤ 12 months and lower degree of tumor volume reduction following treatment (p = 0.001). On multivariate analysis, T/S (p = 0.001), ring enhancement (p = 0.01) and the degree of MRI tumor volume reduction (p = 0.01) independently correlated with OS. In all patients, areas of increased 18F-DOPA uptake overlapped with regions demonstrating more prominent residual components/lack of response following treatment.

Conclusions: 18F-DOPA PET provides useful information for evaluating the metabolism of DIPGs. T/S ratio is an independent predictor of outcome. 18F-DOPA uptake extent delineates tumoral regions with a more aggressive biological behaviour, less sensitive to first line treatment.

DOI: 10.7150/thno.50598

Giugno 2020 Articolo in rivista peer-reviewed
Frontiers in oncology

Pediatric Diffuse Midline Gliomas H3 K27M-Mutant and Non-Histone Mutant Midline High-Grade Gliomas in Neurofibromatosis Type 1 in Comparison With Non-Syndromic Children: A Single-Center Pilot Study

Indagini genetiche

Garibotto et al.

Abstract

Background: Pediatric neurofibromatosis type 1 (NF1) patients rarely develop aggressive central nervous system tumors. Among high-grade gliomas (HGGs), histone mutant diffuse midline gliomas (DMGs H3 K27M-mutant) have exceptionally been reported. The aim of this retrospectives single-center study was to compare the clinical behavior of DMGs H3 K27M-mutant and non-histone mutant midline HGGs in NF1 vs. non-syndromic children and to report imaging features of NF1 HGGs.

Method: We conducted a retrospective review of cerebral DMGs H3 K27M-mutant or non-histone mutant HGGs in 18 patients with or without NF1 followed at our institution between 2010 and 2018. Differences in outcomes, notably progression-free survival (PFS) and overall survival (OS), were evaluated.

Results: Two patients were identified with genetically confirmed diagnosis of NF1 and cerebral HGGs (one DMG H3 K27M-mutant and one histone wild type). Both subjects presented with midline mass lesions with imaging features of aggressive biological activity on advanced MRI or amino-acid PET. During the same time period, 16 non-NF1 patients (11 subjects with DMGs H3 K27M-mutant and 5 with non-histone mutant midline HGGs) were treated at our institution. The two patients with NF1 and HGGs presented a PFS of 3 months and an OS of 5 and 7 months. Median PFS and OS of children without NF1 were respectively 6 and 10 months in DMGs H3 K27M-mutant, and 6 and 11 months in H3 K27M wild-type tumors. Seventy-five percent of subjects with non-NF1 HGGs presented a PFS >4 months compared to 0% in NF1 patients. The 8-month OS of patients with non-NF1 HGGs was 81% compared to 0% in NF1 patients.

Conclusions: Cerebral HGGs arising in midline structures rarely occur in pediatric patients with NF1 and present with extremely poor prognosis, worse than HGGs developing in non-NF1 patients, independent of the presence or absence of H3 K27M mutation. Imaging features of aggressive biological activity on advanced MRI or amino-acid PET imaging suggest prompt neuropathological and molecular investigations.

DOI: 10.3389/fonc.2020.00795

Febbraio 2018 Articolo in rivista peer-reviewed
Neuropathology and Applied Neurobiology

The miR-139-5p regulates proliferation of supratentorial paediatric low-grade gliomas by targeting the PI3K/AKT/mTORC1 signalling

Biologia tumorale

Catanzaro et al.

Abstract

Aims: Paediatric low-grade gliomas (pLGGs) are a heterogeneous group of brain tumours associated with a high overall survival: however, they are prone to recur and supratentorial lesions are difficult to resect, being associated with high percentage of disease recurrence. Our aim was to shed light on the biology of pLGGs.

Methods: We performed microRNA profiling on 45 fresh-frozen grade I tumour samples of various histological classes, resected from patients aged ≤16 years. We identified 93 microRNAs specifically dysregulated in tumours as compared to non-neoplastic brain tissue. Pathway analysis of the microRNAs signature revealed PI3K/AKT signalling as one of the centrally enriched oncogenic signalling. To date, activation of the PI3K/AKT pathway in pLGGs has been reported, although activation mechanisms have not been fully investigated yet.

Results: One of the most markedly down-regulated microRNAs in our supratentorial pLGGs cohort was miR-139-5p, whose targets include the gene encoding the PI3K's (phosphatidylinositol 3-kinase) catalytic unit, PIK3CA. We investigated the role of miR-139-5p in regulating PI3K/AKT signalling by the use of human cell cultures derived from supratentorial pLGGs. MiR-139-5p overexpression inhibited pLGG cell proliferation and decreased the phosphorylation of PI3K target AKT and phosphorylated-p70 S6 kinase (p-p70 S6K), a hallmark of PI3K/AKT/mTORC1 signalling activation. The effect of miR-139-5p was mediated by PI3K inhibition, as suggested by the decrease in proliferation and phosphorylation of AKT and p70 S6K after treatment with the direct PI3K inhibitor LY294002.

Conclusions: These findings provide the first evidence that down-regulation of miR-139-5p in supratentorial pLGG drives cell proliferation by derepressing PI3K/AKT signalling.

DOI: 10.1111/nan.12479

Luglio 2017 Articolo in rivista peer-reviewed
Oncotarget

Added value of diffusion weighted imaging in pediatric central nervous system embryonal tumors surveillance

Metodi diagnostici

Morana et al.

Abstract

Diffusion weighted imaging (DWI) has an established role in primary CNS embryonal tumor (ET) characterization; however, its diagnostic utility in detecting relapse has never been determined. We aimed to compare DWI and conventional MRI sensitivity in CNS ET recurrence detection, and to evaluate the DWI properties of contrast-enhancing radiation induced lesions (RIL).

Fifty-six patients with CNS ET (25 with disease relapse, 6 with RIL and 25 with neither disease relapse nor RIL) were retrospectively evaluated with DWI, conventional MRI (including both T2/FLAIR and post-contrast images), or contrast-enhanced MR imaging (CE-MRI) alone. MRI studies were independently reviewed by two neuroradiologists for detection and localization of potential brain relapses. Sensitivity for focal relapse detection was calculated for each image set on a lesion-by-lesion basis. A descriptive per subject analysis was also performed. Evaluation of follow-up MRI studies served as standard of reference.

Focal recurrence detection sensitivity of DWI (96%) was significantly higher than conventional MRI (77%) and CE-MRI alone (51%) (p=0.0003 and p<0.0001). On per subject analysis there were not missed diagnoses for DWI. At the time of DWI relapse detection, conventional MRI missed 2 diagnoses, and CE-MRI 8. Analysis of medulloblastoma relapses revealed that DWI identified a higher number of focal lesions than CE-MRI in subjects with classic variant. All but one RIL did not show restricted diffusion.

In conclusion, DWI is a valuable complementary technique allowing for improved detection of focal relapse in CNS ET patients, particularly in children with classic medulloblastoma, and may assist in differentiating recurrence from RIL.

DOI: 10.18632/oncotarget.19553

Luglio 2017 Articolo in rivista peer-reviewed
European Journal of Nuclear Medicine and Molecular Imaging

Grading and outcome prediction of pediatric diffuse astrocytic tumors with diffusion and arterial spin labeling perfusion MRI in comparison with 18F-DOPA PET

Metodi diagnostici

Morana et al.

Gennaio 2017 Articolo in rivista peer-reviewed
The American Journal of Surgical Pathology

SMARCB1/INI1 Involvement in Pediatric Chordoma. A Mutational and Immunohistochemical Analysis

Biologia tumorale

Antonelli et al.

Giugno 2016 Articolo in rivista peer-reviewed
Oncotarget

TP53 codon 72 polymorphism may predict early tumour progression in paediatric pilocytic astrocytoma

Indagini genetiche

Mascelli et al.

Settembre 2015 Articolo in rivista peer-reviewed
Neuro-Oncology

Diagnostic and prognostic value of 18F-DOPA PET and 1H-MR spectroscopy in pediatric supratentorial infiltrative gliomas: a comparative study

Metodi diagnostici

Morana et al.

Luglio 2015 Articolo in rivista peer-reviewed
Pediatric Blood and Cancer

Distinctive Genetic Profile With IDH1, TP53, and MLH1 Mutations in a Radiation-Induced Anaplastic Astrocytoma

Biologia tumorale

Mascelli et al.

Settembre 2014 Articolo in rivista peer-reviewed
Cancer Genetics

Congenital multifocal rhabdoid tumor: a case with peculiar biological behavior and different response to treatment according to location (central nervous system and kidney)

Biologia tumorale

Pio et al.

Agosto 2014 Articolo in rivista peer-reviewed
International Journal of Cancer

Pharmacokinetics, pharmacodynamics and efficacy on pediatric tumors of the glioma radiosensitizer KU60019

Studi clinici

Vecchio et al.

Maggio 2014 Articolo in rivista peer-reviewed
Molecular Cytogenetics

Constitutional chromosomal events at 22q11 and 15q26 in a child with a pilocytic astrocytoma of the spinal cord

Indagini genetiche

Mascelli et al.

Luglio 2012 Articolo in rivista peer-reviewed
Journal of Neuro-Oncology

Analysis of NADP+-dependent isocitrate dehydrogenase-1/2 gene mutations in pediatric brain tumors: report of a secondary anaplastic astrocytoma carrying the IDH1 mutation

Biologia tumorale

Mascelli et al.

Gennaio 2012 Articolo in rivista peer-reviewed
Brain Pathology

Characterization of Glioma Stem Cells Through Multiple Stem Cell Markers and Their Specific Sensitization to Double-Strand Break-Inducing Agents by Pharmacological Inhibition of Ataxia Telangiectasia Mutated Protein

Biologia tumorale

Raso et al.

Novembre 2011 Articolo in rivista peer-reviewed
Journal of Clinical Laboratory Analysis

Troubleshooting fine-tuning procedures for qPCR system design

Analisi di laboratorio

Raso et al.

Settembre 2011 Articolo in rivista peer-reviewed
Cancer Letters

Loss of 10q26.1-q26.3 in association with 7q34-q36.3 gain or 17q24.3-q25.3 gain predict poor outcome in pediatric medulloblastoma

Biologia tumorale

Pezzolo et al.

Aprile 2011 Articolo in rivista peer-reviewed
Neuro-Oncology

High levels of PROM1 (CD133) transcript are a potential predictor of poor prognosis in medulloblastoma

Biologia tumorale

Raso et al.

Giugno 2010 Articolo in rivista peer-reviewed
Diagnostic Molecular Pathology

Detection of Transplacental Melanoma Metastasis Using Quantitative PCR

Analisi di laboratorio

Raso et al.

Aprile 2009 Articolo in rivista peer-reviewed
Clinical Cancer Research

Medulloblastoma Variants: Age-Dependent Occurrence and Relation to Gorlin Syndrome-A New Clinical Perspective

Indagini genetiche

Garrè et al.

Gennaio 2009 Articolo in rivista peer-reviewed
European Journal of Medical Genetics

Craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis: Probably a new syndrome

Indagini genetiche

Capra et al.

Dicembre 2008 Lettera all'editore
Pediatric Blood and Cancer

Identification of a novel TP53 germline mutation in a large Italian Li-Fraumeni syndrome Family

Indagini genetiche

Capra et al.

Marzo 2008 Articolo in rivista peer-reviewed
Cancer Letters

Identification of novel chromosomal abnormalities and prognostic cytogenetics markers in intracranial pediatric ependymoma

Biologia tumorale

Pezzolo et al.

Settembre 2007 Articolo in rivista peer-reviewed
Neuropathology and Applied Neurobiology

Successful isolation and long-term establishment of a cell line with stem cell-like features from an anaplastic medulloblastoma

Biologia tumorale

Raso et al.

Febbraio 2007 Articolo in rivista peer-reviewed
Child's Nervous System

Genetic abnormalities and CNS tumors: report of two cases of ependymoma associated with Klinefelter's Syndrome (KS)

Indagini genetiche

Garrè et al.

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