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Article ; Online: Diencephalic Syndrome Due to Optic Pathway Gliomas in Pediatric Patients

Lucia De Martino / Stefania Picariello / Silvia Triarico / Nicola Improda / Pietro Spennato / Michele Antonio Capozza / Anna Grandone / Claudia Santoro / Daniela Cioffi / Giorgio Attinà / Giuseppe Cinalli / Antonio Ruggiero / Lucia Quaglietta

Diagnostics, Vol 12, Iss 664, p

An Italian Multicenter Study

2022 Volume 664

Abstract: Diencephalic syndrome (DS) is a rare pediatric condition associated with optic pathway gliomas (OPGs). Since they are slow-growing tumors, their diagnosis might be delayed, with consequences on long-term outcomes. We present a multicenter case series of ... ...

Abstract	Diencephalic syndrome (DS) is a rare pediatric condition associated with optic pathway gliomas (OPGs). Since they are slow-growing tumors, their diagnosis might be delayed, with consequences on long-term outcomes. We present a multicenter case series of nine children with DS associated with OPG, with the aim of providing relevant details about mortality and long-term sequelae. We retrospectively identified nine children (6 M) with DS (median age 14 months, range 3–26 months). Four patients had NF1-related OPGs. Children with NF1 were significantly older than sporadic cases (median (range) age in months: 21.2 (14–26) versus 10 (3–17); p = 0.015). Seven tumors were histologically confirmed as low-grade astrocytomas. All patients received upfront chemotherapy and nutritional support. Although no patient died, all of them experienced tumor progression within 5.67 years since diagnosis and were treated with several lines of chemotherapy and/or surgery. Long-term sequelae included visual, pituitary and neurological dysfunction. Despite an excellent overall survival, PFS rates are poor in OPGs with DS. These patients invariably present visual, neurological or endocrine sequelae. Therefore, functional outcomes and quality-of-life measures should be considered in prospective trials involving patients with OPGs, aiming to identify “high-risk” patients and to better individualize treatment.
Keywords	diencephalic syndrome ; optic pathway glioma ; NF1 ; pediatric ; chemotherapy ; long-term outcomes ; Medicine (General) ; R5-920
Subject code	610 ; 616
Language	English
Publishing date	2022-03-01T00:00:00Z
Publisher	MDPI AG
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Posterior Fossa Tumours in the First Year of Life

Stefania Picariello / Pietro Spennato / Jonathan Roth / Nir Shimony / Alessandra Marini / Lucia De Martino / Giancarlo Nicosia / Giuseppe Mirone / Maria Serena De Santi / Fabio Savoia / Maria Elena Errico / Lucia Quaglietta / Shlomi Costantini / Giuseppe Cinalli

Diagnostics, Vol 12, Iss 635, p

A Two-Centre Retrospective Study

2022 Volume 635

Abstract: Posterior fossa tumours (PFTs) in infants are very rare, and information on these tumours is scarce in the literature. This retrospective study reports their pathological characteristics and describes surgical aspects and treatment outcomes. A two-centre ...

Abstract	Posterior fossa tumours (PFTs) in infants are very rare, and information on these tumours is scarce in the literature. This retrospective study reports their pathological characteristics and describes surgical aspects and treatment outcomes. A two-centre cohort of infants with PFTs treated from 2007 to 2018 was retrospectively reviewed. Patient characteristics, clinical, and treatment data were reviewed. Survival curves for progression-free survival (PFS) and overall survival (OS) were generated. Thirty-three infants were retrieved. There were 11 low grade and 22 high-grade tumours. The most common presenting symptom was intracranial hypertension. Fifteen children out of thirty-three progressed. Five-year PFS was significantly lower in children with high-grade tumours (38.3%) than those with low-grade tumours (69.3%), p = 0.030. High-grade pathology was the only predictor of progression (HR 3.7, 95% CI 1.1–13.31), p = 0.045. Fourteen children with high-grade tumours died, with a 5-year OS of 55.25%. PFTs in children below one year of age still represent a unique challenge. Infants with high-grade tumours display the worst outcomes and the lowest survival, indicating that more effective strategies are needed.
Keywords	infratentorial tumours ; posterior fossa tumours ; infants ; Atypical Teratoid/Rhabdoid Tumour ; medulloblastoma ; astrocytoma ; Medicine (General) ; R5-920
Subject code	616 ; 610
Language	English
Publishing date	2022-03-01T00:00:00Z
Publisher	MDPI AG
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Prenatal diagnosis and postnatal management of congenital unilateral hydrocephalus for stenosis of the foramen of Monro

Pietro Spennato, MD / Gabriele Saccone, MD / Andrea Fratta, MD / Maria Rosaria Scala, MD / Laura Sarno, MD / Elisabetta Gragnano, RN / Fulvio Zullo / Giuseppe Cinalli, MD

Radiology Case Reports, Vol 16, Iss 9, Pp 2530-

2021 Volume 2533

Abstract: Congenital hydrocephalus and ventriculomegaly can be diagnosed reliably with prenatal ultrasound and Magnetic Resonance Imaging (MRI). Unilateral hydrocephalus is uncommon, and the prognosis depends on etiology and postnatal management. Here, we present ... ...

Abstract	Congenital hydrocephalus and ventriculomegaly can be diagnosed reliably with prenatal ultrasound and Magnetic Resonance Imaging (MRI). Unilateral hydrocephalus is uncommon, and the prognosis depends on etiology and postnatal management. Here, we present a case of a 32-years-old woman with prenatal diagnosis of unilateral hydrocephalus associated with stenosis of the foramen of Monro. Unilateral hydrocephalus is an uncommon feature that can be detected prenatally on ultrasound and MRI. In case of isolated stenosis of the foramen of Monro prognosis is good.
Keywords	Neurosurgery ; Prenatal diagnosis ; Hydrocephalus ; Ultrasound ; MRI ; Medical physics. Medical radiology. Nuclear medicine ; R895-920
Language	English
Publishing date	2021-09-01T00:00:00Z
Publisher	Elsevier
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Pediatric lung adenocarcinoma presenting with brain metastasis

Lucia De Martino / Maria Elena Errico / Serena Ruotolo / Daniele Cascone / Stefano Chiaravalli / Paola Collini / Andrea Ferrari / Paolo Muto / Giuseppe Cinalli / Lucia Quaglietta

Journal of Medical Case Reports, Vol 12, Iss 1, Pp 1-

a case report

2018 Volume 8

Abstract: Abstract Background Diagnosis and treatment of primary lung adenocarcinoma in children remains challenging given its rarity. Here we highlight the clinical history, pathological evaluation, genomic findings, and management of a very young patient with ... ...

Abstract	Abstract Background Diagnosis and treatment of primary lung adenocarcinoma in children remains challenging given its rarity. Here we highlight the clinical history, pathological evaluation, genomic findings, and management of a very young patient with metastatic lung adenocarcinoma. Case presentation A 10-year-old white girl presented with brain metastases due to primary pulmonary adenocarcinoma. Next generation sequencing analysis with “Comprehensive Cancer Panel” highlighted the presence of multiple non-targetable mutations in the FLT4, UBR5, ATM, TAF1, and GUCY1A2 genes. She was treated aggressively with chemotherapy, surgery, and radiation therapy for local and distant recurrence. Eventually, therapy with nivolumab was started compassionately, and she died 23 months after diagnosis. Conclusions Extremely rare cancers in children such as lung adenocarcinoma need accurate and specific diagnosis in order to develop an optimal plan of treatment. It is also necessary to underline that “children are not little adults,” thus implying that an adult-type cancer in the pediatric population might have a different etiopathogenesis. Diagnostic confirmation and primary treatment of such rare conditions should be centralized in reference centers, collaborative networks, or both, with multidisciplinary approaches and very specific expertise.
Keywords	Brain metastasis ; Cancer immunotherapy ; Lung adenocarcinoma ; Nivolumab ; Rare tumor ; TREP ; Medicine ; R
Subject code	610
Language	English
Publishing date	2018-09-01T00:00:00Z
Publisher	BMC
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article: Grisel's Syndrome: Non-traumatic Atlantoaxial Rotatory Subluxation-Report of Five Cases and Review of the Literature.

Iaccarino, Corrado / Francesca, Ormitti / Piero, Spennato / Monica, Rubini / Armando, Rapanà / de Bonis, Pasquale / Ferdinando, Aliberti / Trapella, Giorgio / Mongardi, Lorenzo / Cavallo, Michele / Giuseppe, Cinalli / Franco, Servadei

Acta neurochirurgica. Supplement

2019 Volume 125, Page(s) 279–288

Abstract: Background: In children, when unresponsive neck rigidity and distress are observed after ear, nose and throat (ENT) surgical treatment or nasopharyngeal inflammation, Grisel's syndrome should be suspected. This is a rare syndrome involving non-traumatic ...

Abstract	Background: In children, when unresponsive neck rigidity and distress are observed after ear, nose and throat (ENT) surgical treatment or nasopharyngeal inflammation, Grisel's syndrome should be suspected. This is a rare syndrome involving non-traumatic rotatory subluxation of the atlantoaxial joint. Conservative management with external cervical orthoses and empirical antibiotic, muscle relaxant and analgesic therapy should be the first choice of treatment. Surgical stabilization is indicated when high-grade instability or failure of stable reduction are observed. The instability is graded according to the classification system devised by Fielding and Hawkins. Several recommendations for treatment are available in the literature, but there are no common guidelines. In this paper, the authors discuss the need for prompt diagnosis and treatment considerations. Case description: Five children with Fielding type I-III rotatory subluxation are reported. Three patients were treated with a cervical collar, and one patient was treated with skull traction and sternal-occipital-mandibular immobilizer (SOMI) brace application. Surgical treatment was necessary for one patient after failure of initial conservative management. The intervals between the onset of torticollis and radiological diagnosis ranged from 12 to 90 days. A relationship between an increased grade of instability and delayed diagnosis was observed. Conclusion: In children with painful torticollis following ENT procedures or nasopharyngeal inflammation, Grisel's syndrome should always be suspected. Cervical magnetic resonance imaging (MRI) allows prompt and safe diagnosis, and a three-dimensional computed tomography (CT) scan provides better classification of the instability. Surgery, which is indicated in cases of high-grade instability or failure of conservative treatment, may be avoided with prompt diagnosis.
MeSH term(s)	Atlanto-Axial Joint/diagnostic imaging ; Child ; Humans ; Imaging, Three-Dimensional ; Joint Dislocations/diagnostic imaging ; Joint Dislocations/etiology ; Joint Dislocations/therapy ; Joint Instability/classification ; Joint Instability/diagnostic imaging ; Joint Instability/etiology ; Joint Instability/therapy ; Magnetic Resonance Imaging ; Nasopharyngitis/complications ; Otorhinolaryngologic Surgical Procedures/adverse effects ; Rotation ; Syndrome ; Tomography, X-Ray Computed ; Torticollis/etiology
Language	English
Publishing date	2019-01-05
Publishing country	Austria
Document type	Case Reports ; Journal Article ; Review
ISSN	0065-1419
ISSN	0065-1419
DOI	10.1007/978-3-319-62515-7_40
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article ; Online: Epigenetic Silencing of DKK3 in Medulloblastoma

André Oberthuer / Giuseppe Cinalli / Tiziana Servidei / Massimo Zollo / Thomas Hielscher / Massimo Romani / Claudio Brigati / Alfa H.C. Bai / Marc Remke / Marcel Kool / Stefano Moretti / Stefan M. Pfister / Sara Stigliani / Barbara Banelli / Francesca Valdora / Gian Paolo Tonini / Simona Coco

International Journal of Molecular Sciences, Vol 14, Iss 4, Pp 7492-

2013 Volume 7505

Abstract: Medulloblastoma (MB) is a malignant pediatric brain tumor arising in the cerebellum consisting of four distinct subgroups: WNT, SHH, Group 3 and Group 4, which exhibit different molecular phenotypes. We studied the expression of Dickkopf (DKK) 1–4 family ...

Abstract	Medulloblastoma (MB) is a malignant pediatric brain tumor arising in the cerebellum consisting of four distinct subgroups: WNT, SHH, Group 3 and Group 4, which exhibit different molecular phenotypes. We studied the expression of Dickkopf (DKK) 1–4 family genes, inhibitors of the Wnt signaling cascade, in MB by screening 355 expression profiles derived from four independent datasets. Upregulation of DKK1, DKK2 and DKK4 mRNA was observed in the WNT subgroup, whereas DKK3 was downregulated in 80% MBs across subgroups with respect to the normal cerebellum (p < 0.001). Since copy number aberrations targeting the DKK3 locus (11p15.3) are rare events, we hypothesized that epigenetic factors could play a role in DKK3 regulation. Accordingly, we studied 77 miRNAs predicting to repress DKK3; however, no significant inverse correlation between miRNA/mRNA expression was observed. Moreover, the low methylation levels in the DKK3 promoters (median: 3%, 5% and 5% for promoter 1, 2 and 3, respectively) excluded the downregulation of gene expression by methylation. On the other hand, the treatment of MB cells with Trichostatin A (TSA), a potent inhibitor of histone deacetylases (HDAC), was able to restore both DKK3 mRNA and protein. In conclusion, DKK3 downregulation across all MB subgroups may be due to epigenetic mechanisms, in particular, through chromatin condensation.
Keywords	medulloblastoma ; Wnt antagonists ; DKK family ; DKK3 downregulation ; histone deacetylase ; TSA ; Biology (General) ; QH301-705.5 ; Chemistry ; QD1-999
Subject code	570
Language	English
Publishing date	2013-04-01T00:00:00Z
Publisher	MDPI AG
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: MiR-34a targeting of Notch ligand delta-like 1 impairs CD15+/CD133+ tumor-propagating cells and supports neural differentiation in medulloblastoma.

Pasqualino de Antonellis / Chiara Medaglia / Emilio Cusanelli / Immacolata Andolfo / Lucia Liguori / Gennaro De Vita / Marianeve Carotenuto / Annamaria Bello / Fabio Formiggini / Aldo Galeone / Giuseppe De Rosa / Antonella Virgilio / Immacolata Scognamiglio / Manuela Sciro / Giuseppe Basso / Johannes H Schulte / Giuseppe Cinalli / Achille Iolascon / Massimo Zollo

PLoS ONE, Vol 6, Iss 9, p e

2011 Volume 24584

Abstract: Through negative regulation of gene expression, microRNAs (miRNAs) can function as oncosuppressors in cancers, and can themselves show altered expression in various tumor types. Here, we have investigated medulloblastoma tumors (MBs), which arise from an ...

Abstract	Through negative regulation of gene expression, microRNAs (miRNAs) can function as oncosuppressors in cancers, and can themselves show altered expression in various tumor types. Here, we have investigated medulloblastoma tumors (MBs), which arise from an early impairment of developmental processes in the cerebellum, where Notch signaling is involved in many of the cell-fate-determining stages. Notch regulates a subset of MB cells that have stem-cell-like properties and can promote tumor growth. On the basis of this evidence, we hypothesized that miRNAs targeting the Notch pathway can regulate these phenomena, and can be used in anti-cancer therapies.In a screening of potential targets within Notch signaling, miR-34a was seen to be a regulator of the Notch pathway through its targeting of Notch ligand Delta-like 1 (Dll1). Down-regulation of Dll1 expression by miR-34a negatively regulates cell proliferation, and induces apoptosis and neural differentiation in MB cells. Using an inducible tetracycline on-off model of miR-34a expression, we show that in Daoy MB cells, Dll1 is the first target that is regulated in MB, as compared to the other targets analyzed here: Cyclin D1, cMyc and CDK4. MiR-34a expression negatively affects CD133(+)/CD15(+) tumor-propagating cells, then we assay through reverse-phase proteomic arrays, Akt and Stat3 signaling hypo-phosphorylation. Adenoviruses carrying the precursor miR-34a induce neurogenesis of tumor spheres derived from a genetic animal model of MB (Patch1(+/-) p53(-/-)), thus providing further evidence that the miR-34a/Dll1 axis controls both autonomous and non autonomous signaling of Notch. In vivo, miR-34a overexpression carried by adenoviruses reduces tumor burden in cerebellum xenografts of athymic mice, thus demonstrating an anti-tumorigenic role of miR-34a in vivo.Despite advances in our understanding of the pathogenesis of MB, one-third of patients with MB remain incurable. Here, we show that stable nucleic-acid-lipid particles carrying mature miR-34a can target Dll1 in vitro and show equal effects to those of adenovirus miR-34a cell infection. Thus, this technology forms the basis for their therapeutic use for the delivery of miR-34a in brain-tumor treatment, with no signs of toxicity described to date in non-human primate trials.
Keywords	Medicine ; R ; Science ; Q
Subject code	570
Language	English
Publisher	Public Library of Science (PLoS)
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: MicroRNA-199b-5p impairs cancer stem cells through negative regulation of HES1 in medulloblastoma.

PLoS ONE, Vol 4, Iss 3, p e

2009 Volume 4998

Abstract: Through negative regulation of gene expression, microRNAs (miRNAs) can function in cancers as oncosuppressors, and they can show altered expression in various tumor types. Here we have investigated medulloblastoma tumors (MBs), which arise from an early ... ...

Abstract	Through negative regulation of gene expression, microRNAs (miRNAs) can function in cancers as oncosuppressors, and they can show altered expression in various tumor types. Here we have investigated medulloblastoma tumors (MBs), which arise from an early impairment of developmental processes in the cerebellum, where Notch signaling is involved in many cell-fate-determining stages. MBs occur bimodally, with the peak incidence seen between 3-4 years and 8-9 years of age, although it can also occur in adults. Notch regulates a subset of the MB cells that have stem-cell-like properties and can promote tumor growth. On the basis of this evidence, we hypothesized that miRNAs targeting the Notch pathway can regulated these phenomena, and can be used in anti-cancer therapies.In a screening of MB cell lines, the miRNA miR-199b-5p was seen to be a regulator of the Notch pathway through its targeting of the transcription factor HES1. Down-regulation of HES1 expression by miR-199b-5p negatively regulates the proliferation rate and anchorage-independent growth of MB cells. MiR-199b-5p over-expression blocks expression of several cancer stem-cell genes, impairs the engrafting potential of MB cells in the cerebellum of athymic/nude mice, and of particular interest, decreases the MB stem-cell-like (CD133+) subpopulation of cells. In our analysis of 61 patients with MB, the expression of miR-199b-5p in the non-metastatic cases was significantly higher than in the metastatic cases (P = 0.001). Correlation with survival for these patients with high levels of miR-199b expression showed a positive trend to better overall survival than for the low-expressing patients. These data showing the down-regulation of miR-199b-5p in metastatic MBs suggest a potential silencing mechanism through epigenetic or genetic alterations. Upon induction of de-methylation using 5-aza-deoxycytidine, lower miR-199b-5p expression was seen in a panel of MB cell lines, supported an epigenetic mechanism of regulation. Furthermore, two cell lines (Med8a and ...
Keywords	Medicine ; R ; Science ; Q
Subject code	570
Language	English
Publishing date	2009-01-01T00:00:00Z
Publisher	Public Library of Science (PLoS)
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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