Hereditary breast/ovarian cancer (HBOC) syndrome is caused by the inheritance of monoallelic germline BRCA1/2 gene mutations. If BRCA1/2 mutation carriers are identified before the disease develops, effective actions against HBOC can be taken, including intensive screening, risk-reducing mastectomy and salpingo-oophorectomy, and risk-reducing medications. The Italian National Prevention Plan mandates the creation of regional BRCA genetic testing programmes.
View Article and Find Full Text PDFSubjects with pathogenic (PV) and likely pathogenic (LPV) FLCN variants have an increased risk of manifesting benign and malignant disorders that are related to Birt-Hogg-Dubé syndrome (BHDS): an autosomal dominantly inherited disorder whose severity can vary significantly. Renal cell carcinoma (RCC) development in BHD (Birt-Hogg-Dubé) patients has a very high incidence; thus, identifying this rare syndrome at early stages and preventing metastatic spread is crucial. Over the last decade, the advancement of Next Generation Sequencing (NGS) and the implementation of multigene panels for hereditary cancer syndromes (HCS) have led to a subsequent focus on additional genes and variants, including those of uncertain significance (VUS).
View Article and Find Full Text PDFBRCA1 and BRCA2 are the most frequently mutated genes in ovarian cancer (OC) crucial both for the identification of cancer predisposition and therapeutic choices. However, germline variants in other genes could be involved in OC susceptibility. We characterized OC patients to detect mutations in genes other than BRCA1/2 that could be associated with a high risk of developing OC and permit patients to enter the most appropriate treatment and surveillance program.
View Article and Find Full Text PDFPurpose: To explore the relationships between clinical-radiological features and surgical outcomes in subjects with interhemispheric cysts (IHC) and corpus callosum anomalies.
Methods: We reviewed the clinico-radiological and neurosurgical data of 38 patients surgically treated with endoscopic fenestration, shunting, or combined approaches from 2000 to 2018 (24 males, median age 9 years). Pre- and postoperative changes in IHC volume were calculated.
Birt-Hogg-Dubé syndrome (BHDS) is a rare autosomal dominant inherited disorder caused by a mutation in folliculin () gene transmitted germline autosomal dominant pattern. Patients with this syndrome have an increased susceptibility to renal cell carcinoma, lung cysts, spontaneous pneumothorax, and benign skin hamartomas, and its diagnosis is not easy and consequently underestimated. Several mutations have been identified in gene, among which the majority of alterations are frameshift (insertion/deletion), nonsense, or splice-site mutations that generally produce unfunctional truncated FLCN proteins.
View Article and Find Full Text PDFBackground: Since external ventricular drainage (EVD) related infections are usually due to skin flora, an extradural intra/extra-cranial accessory device, developed for pediatric patients under three years of age undergoing EVD positioning, is described. The aim of this paper is to provide technical description of this device, underlining the possibility to reduce infective risk and to prevent EVD dislocation.
Methods: Patients undergoing A-D device EVD placement between 1990 and 2017 at authors' institution were retrospectively considered.
E-cadherin is a key player in gastric cancer (GC) and germline alterations of , its encoding gene, are responsible for Hereditary Diffuse Gastric Cancer (HDGC) syndrome. This study aimed at elucidating the role of genetic variants and DNA methylation of promoter and enhancers in the regulation of gene expression. For this purpose, we analyzed genetic variants of the gene through Next-Generation Sequencing (NGS) in a series of GC cell lines (NCI-N87, KATO-III, SNU-1, SNU-5, GK2, AKG, KKP) and the corresponding expression levels.
View Article and Find Full Text PDFBackground: Pancreatic cancer (PC) is a major cause of cancer death. In an effort to improve treatment strategies and outcomes, DNA damage repair (DDR) pathways have been introduced as a new target in PC and in other cancers, through the exploitation of synthetic lethality. Furthermore, genes involved in DDR are among the major determinants of cancer susceptibility.
View Article and Find Full Text PDFBackground: Post-haemorrhagic ventricular dilatation (PHVD) still represents an important cause of brain injury in premature infants. Intervention for PHVD is recommended once Ventricular Index (VI) crosses the 97th percentile + 4 mm line according to Levene.
Objectives: We aimed to compare PHVD severity, timing of intervention, and outcome between outborn infants transferred to a level IV NICU in order to be treated for PHVD and a control population of inborn infants.
Male breast cancer (MBC) is a rare tumor, accounting for less than 1% of all breast cancers. In MBC, genetic predisposition plays an important role; however, only a few studies have investigated in depth the role of genes other than and . We performed a Next-Generation Sequencing (NGS) analysis with a panel of 94 cancer predisposition genes on germline DNA from an Italian case series of 70 patients with MBC.
View Article and Find Full Text PDFBackground: Lynch syndrome (LS) is associated with germline mutations in one of the mismatch repair genes or EPCAM. The majority of the causative alterations are point mutations. Large genomic rearrangements represent only 5-20%.
View Article and Find Full Text PDFThe main gene involved in gastric cancer (GC) predisposition is , the pathogenic variants of which are associated with diffuse-type gastric cancer (DGC) and lobular breast cancer (LBC). only explains a fraction (10-50%) of patients suspected of DGC/LBC genetic predisposition. To identify novel susceptibility genes, thus improving the management of families at risk, we performed a multigene panel testing on selected patients.
View Article and Find Full Text PDFBackground: Nontraumatic atlantoaxial subluxation, also known as Grisel syndrome, is a rare disease that usually affects children. The typical presentation is torticollis in patients with a history of surgical operations or airway infections.
Methods: We describe 5 patients with Grisel syndrome, referring to medical care for a torticollis, a few weeks after an airway infection, with no trauma associated.
Objective: Given the lack of significant responses to many queries regarding behavior, treatment options, and possible prevention of iatrogenic intraspinal inclusion tumors (IITs), we think that further clinical, radiologic, and follow-up data are mandatory to better characterize this entity. We retrospectively reviewed a series of 14 consecutive patients with IIT occurring after myelomeningocele repair. The long follow-up is a mainstay of this series and may help a better understanding of the history of this slow-growing disease.
View Article and Find Full Text PDFIntroduction: Moyamoya disease is a steno-occlusive cerebrovascular disease of unknown etiology involving the terminal portion of the internal carotid artery and the proximal portions of the anterior and middle cerebral arteries with associated collateral vascular network. When the vascular pattern is associated with a particular condition (e.g.
View Article and Find Full Text PDFBackground: Dermoid and epidermoid cysts are among the most frequent lesions of the scalp in the pediatric population. Optimal management of a suspected dermoid or epidermoid cyst in children is debated: Some authors advocate conservative management on the basis of the benign histology of these entities, while others prefer surgical excision.
Objective: Our objective is to demonstrate that excision of dermoid and epidermoid cysts is a safe procedure and that early surgery is effective in preventing potential complications related to cyst growth.
Background: Moyamoya disease (MMD) is a cerebrovascular disorder characterized by the progressive occlusion of the supraclinoid internal carotid artery (ICA), resulting in the formation of an abnormal cerebral vascular network. When MMD occurs in association with an underlying medical condition, including some distinctive genetic disorders, it is named moyamoya syndrome (MMS). The discrimination between MMD and MMS has been validated by recent genetic researches and international reviews.
View Article and Find Full Text PDFBackground: Iatrogenic pseudoaneurysm of the superficial temporal artery after surgery for craniosynostosis is a complication that has never been described in the pertinent literature. Although reported for other types of surgeries, no case has been described in the pediatric population.
Case Description: We report on a case of pseudoaneurysm of the superficial temporal artery that occurred 9 days after corrective surgery for scaphocephaly.
Purpose: The role of T2*-based MR imaging in intracranial germ cell tumors (GCTs) has not been fully elucidated. The aim of this study was to evaluate the susceptibility-weighted imaging (SWI) or T2* gradient echo (GRE) features of germinomas and non-germinomatous germ cell tumors (NGGCTs) in midline and off-midline locations.
Methods: We retrospectively evaluated all consecutive pediatric patients referred to our institution between 2005 and 2016, for newly diagnosed, treatment-naïve intracranial GCT, who underwent MRI, including T2*-based MR imaging (T2* GRE sequences or SWI).
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.
View Article and Find Full Text PDFPurpose: The aim of this study was to investigate MRI-derived diffusion weighted imaging (DWI) and arterial spin labeling (ASL) perfusion imaging in comparison with F-dihydroxyphenylalanine (DOPA) PET with respect to diagnostic performance in tumor grading and outcome prediction in pediatric patients with diffuse astrocytic tumors (DAT).
Methods: We retrospectively analyzed 26 children with histologically proven treatment naïve low and high grade DAT who underwent ASL and DWI performed within 2 weeks of F-DOPA PET. Relative ASL-derived cerebral blood flow max (rCBF max) and DWI-derived minimum apparent diffusion coefficient (rADC min) were compared with F-DOPA uptake tumor/normal tissue (T/N) and tumor/striatum (T/S) ratios, and correlated with World Health Organization (WHO) tumor grade and progression-free survival (PFS).
As new genes predisposing to breast (BC) and ovarian cancer (OC) are constantly emerging, the use of panels of genes analyzed by Next-Generation Sequencing (NGS) is increasing in clinical diagnostics. The identification of a large number of new germline mutations allows for deeper knowledge of cancer predisposition, although raising many questions about patient management.BC and OC patients recruited by our counseling service between 2012-2015 were included in this study.
View Article and Find Full Text PDFBackground: Primary intracranial hydatid cyst is a rare location of human echinococcosis whose spontaneous, traumatic or even iatrogenic rupture, as in case of misdiagnosis, may cause anaphylactic reactions and dissemination.
Case Report: We discuss the management of a 9-year-old boy who was admitted to our Emergency Department with an intracranial hypertension syndrome. Head CT scan and brain MRI showed a huge intra-axial right temporo-parieto-occipital cyst with a marginal calcification, associated with left ventricular uncompensated hydrocephalus.
Pilocytic astrocytoma and ganglioglioma may occur in inaccessible or surgically difficult areas. In case of incomplete resection, the availability of biological predictors of tumour progression could be particularly important. To this end, an analysis of p53 codon 72 polymorphism and assessment of its role as prognostic marker were performed.
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