Retinoblastoma and beyond: pediatric orbital mass lesions.

Various space occupying lesions can arise in the orbit, ranging from developmental anomalies to malignancies, and many of the diseases occurring in children are different from the pathologies in the adult population. As the clinical presentation is frequently nonspecific, radiologic evaluation is essential for lesion detection and characterization as well as patient management. While orbital masses may in some cases involve multiple compartments, a simple compartmental approach is the key for the diagnosis on imaging studies, and MRI is the modality of choice.

Differentiating MYCN-amplified RB1 wild-type retinoblastoma from biallelic RB1 mutant retinoblastoma using MR-based radiomics: a retrospective multicenter case-control study.

MYCN-amplified RB1 wild-type (MYCNRB1) retinoblastoma is a rare and aggressive subtype, often resistant to standard therapies. Identifying unique MRI features is crucial for diagnosing this subtype, as biopsy is not recommended. This study aimed to differentiate MYCNRB1 from the most prevalent RB1 retinoblastoma using pretreatment MRI and radiomics.

Follow-up of Cystic Pineal Glands in Retinoblastoma Patients Does Not Increase Detection of Pineal Trilateral Retinoblastoma.

Purpose: To evaluate the effectiveness of baseline screening and follow-up with magnetic resonance imaging (MRI) for detecting trilateral retinoblastoma (TRb) and assessing the risk of TRb development.

Design: Prospective multicenter cohort study.

Methods: A total of 607 retinoblastoma patients from 2012 through 2022 were included and followed up until September 1, 2023.

MR Imaging of Adverse Effects and Ocular Growth Decline after Selective Intra-Arterial Chemotherapy for Retinoblastoma.

This retrospective multicenter study examines therapy-induced orbital and ocular MRI findings in retinoblastoma patients following selective intra-arterial chemotherapy (SIAC) and quantifies the impact of SIAC on ocular and optic nerve growth. Patients were selected based on medical chart review, with inclusion criteria requiring the availability of posttreatment MR imaging encompassing T2-weighted and T1-weighted images (pre- and post-intravenous gadolinium administration). Qualitative features and quantitative measurements were independently scored by experienced radiologists, with deep learning segmentation aiding total eye volume assessment.

Contrast-enhanced ultrasound (CEUS): one step forward in the identification of "high risk" solitary fibrotic tumors of the liver.

Background: Solitary fibrous tumors of the liver (SFTL) are rare neoplasms, whose identification and definition of malignant potential are challenging.

Case Presentation: A 62-year-old patient underwent conventional imaging and CEUS to characterize an indeterminate liver lesion after other imaging techniques were inconclusive. In fact, all diagnostic techniques concluded that it was a partially fibrotic lesion, while CEUS determined its extra-hepatocellular origin and malignant potential, initially hypothesized to be a cholangiocarcinoma.

Optic nerve thickening on high-spatial-resolution MRI predicts early-stage postlaminar optic nerve invasion in retinoblastoma.

Objectives: To assess the diagnostic accuracy of nerve thickening on MRI to predict early-stage postlaminar optic nerve invasion (PLONI) in retinoblastoma. Furthermore, this study aimed to incorporate measurements into a multiparametric model for radiological determination of PLONI.

Methods: In this retrospective multicenter case-control study, high-spatial-resolution 3D T2-weighted MR images were used to measure the distal optic nerve.

Correlation of gene expression with magnetic resonance imaging features of retinoblastoma: a multi-center radiogenomics validation study.

Objectives: To validate associations between MRI features and gene expression profiles in retinoblastoma, thereby evaluating the repeatability of radiogenomics in retinoblastoma.

Methods: In this retrospective multicenter cohort study, retinoblastoma patients with gene expression data and MRI were included. MRI features (scored blinded for clinical data) and matched genome-wide gene expression data were used to perform radiogenomic analysis.

MRI Features for Identifying -amplified Wild-type Retinoblastoma.

Background -amplified wild-type () retinoblastoma is a rare but clinically important subtype of retinoblastoma due to its aggressive character and relative resistance to typical therapeutic approaches. Because biopsy is not indicated in retinoblastoma, specific MRI features might be valuable to identify children with this genetic subtype. Purpose To define the MRI phenotype of retinoblastoma and evaluate the ability of qualitative MRI features to help identify this specific genetic subtype.

Go-BACK catheter for treatment of iliac artery chronic total occlusion: A case report.

The Go-BACK catheter is a novel device designed to be used for both intraluminal crossing or re-entry, into a vessel lumen from the subintimal space during subintimal angioplasty. It is reserved for cases where reentry has not been possible using conventional wire and catheter techniques. We report our experience in recanalization of the chronic total occlusions of the common iliac artery (CIA) using the Go-BACK catheter, in cases where other techniques were unsuccessful.

Magnetic Resonance Imaging Can Reliably Differentiate Optic Nerve Inflammation from Tumor Invasion in Retinoblastoma with Orbital Cellulitis.

Purpose: To investigate the prevalence and magnetic resonance imaging (MRI) phenotype of retinoblastoma-associated orbital cellulitis. Additionally, this study aimed to identify postlaminar optic nerve enhancement (PLONE) patterns differentiating between inflammation and tumor invasion.

Design: A monocenter cohort study assessed the prevalence of orbital cellulitis features on MRI in retinoblastoma patients.

The microRNA processor DROSHA is a candidate gene for a severe progressive neurological disorder.

DROSHA encodes a ribonuclease that is a subunit of the Microprocessor complex and is involved in the first step of microRNA (miRNA) biogenesis. To date, DROSHA has not yet been associated with a Mendelian disease. Here, we describe two individuals with profound intellectual disability, epilepsy, white matter atrophy, microcephaly and dysmorphic features, who carry damaging de novo heterozygous variants in DROSHA.

Retinoblastoma Is Characterized by a Cold, CD8+ Cell Poor, PD-L1- Microenvironment, Which Turns Into Hot, CD8+ Cell Rich, PD-L1+ After Chemotherapy.

Purpose: To investigate the impact of chemotherapy (CHT) on human retinoblastoma (RB) tumor microenvironment (TME).

Cases And Methods: Ninety-four RBs were studied, including 44 primary RBs treated by upfront surgery (Group 1) and 50 primary RBs enucleated after CHT (CHT), either intra-arterial (IAC; Group 2, 33 cases) or systemic (S-CHT; Group 3, 17 cases). Conventional and multiplexed immunohistochemistry were performed to make quantitative comparisons among the three groups, for the following parameters: tumor-infiltrating inflammatory cells (TI-ICs); programmed cell death protein 1 (PD-1) positive TI-ICs; Ki67 proliferation index; gliosis; PD-1 ligand (PD-L1) protein expression; vessel number.

Orbital Pseudocellulitis: A Retinoblastoma-Associated Masquerade Syndrome.

Introduction: A masquerade syndrome is an atypical presentation of a neoplastic process that mimics an inflammatory condition. In this paper, we focus on orbital pseudocellulitis.

Case Series: Our case series includes 5 retinoblastoma patients with orbital pseudocellulitis at presentation.

MR Imaging Features to Differentiate Retinoblastoma from Coats' Disease and Persistent Fetal Vasculature.

Retinoblastoma mimickers, or pseudoretinoblastoma, are conditions that show similarities with the pediatric cancer retinoblastoma. However, false-positive retinoblastoma diagnosis can cause mistreatment, while false-negative diagnosis can cause life-threatening treatment delay. The purpose of this study is to identify the MR imaging features that best differentiate between retinoblastoma and the most common pseudoretinoblastoma diagnoses: Coats' disease and persistent fetal vasculature (PFV).

Rescue intra-arterial chemotherapy in unilateral multirelapsed peripapillary retinoblastoma: Decision making and the role of MRI.

Introduction: In this case report we report our experience with rescue intra-arterial chemotherapy in a case of multi-relapsed peripapillary Retinoblastoma (RB) and the importance of high resolution MRI in detecting possible optic disc infiltration.

Case Report: In 2007, a 14 month-old caucasian girl was referred to our ocular oncology unit for leukocoria. Only left eye was interested, with a single mass of the posterior pole.

Focus on progressive myoclonic epilepsy in Berardinelli-Seip syndrome.

Introduction: Berardinelli-Seip syndrome or congenital generalized lipodystrophy type 2 is a rare genetic disorder characterized by selective loss of subcutaneous adipose tissue associated with peripheral insulin resistance and its complications. Nonprogressive mental retardation, dystonia, ataxia, and pyramidal signs are commonly present, whereas epilepsy has only occasionally been observed.

Case Report: We report the case of two sisters, 11 and 18 years old respectively, with an overlapping clinical phenotype compatible with Berardinelli-Seip syndrome and progressive myoclonic epilepsy.

Conventional, diffusion, and permeability MR findings in ocular medulloepithelioma.

Purpose: To describe the neuroradiological features of intraocular medulloepithelioma.

Methods: We retrospectively analyzed the clinical, histopathological, and MRI data of five children with medulloepithelioma. In addition to conventional images, DWI was performed in four patients and mean ADC was calculated; this was limited to the technique of this cohort of patients.

Stroke in Pregnancy and Review of Current Literature: Arterial Spin-Labeling MRI Can Identify the Presence and Intensity of Collateral Circle.

Diagnosis and treatment of acute ischemic stroke is challenging during pregnancy. We present a diagnostic strategy in a pregnant woman with suspect of acute stroke. We perform magnetic resonance with arterial spin labeling sequence, an X-ray and contrast medium safe perfusion technique.

MR Imaging Features of Retinoblastoma: Association with Gene Expression Profiles.

Purpose To identify associations between magnetic resonance (MR) imaging features and gene expression in retinoblastoma. Materials and Methods A retinoblastoma MR imaging atlas was validated by using anonymized MR images from referral centers in Essen, Germany, and Paris, France. Images were from 39 patients with retinoblastoma (16 male and 18 female patients [the sex in five patients was unknown]; age range, 5-90 months; inclusion criterion: pretreatment MR imaging).

The spectrum of magnetic resonance findings in cerebrotendinous xanthomatosis: redefinition and evidence of new markers of disease progression.

Cerebrotendinous xanthomatosis (CTX) is a metabolic disease characterized by systemic signs and neurological impairment, which can be prevented if chenodeoxycholic acid (CDCA) treatment is started early. Despite brain MRI represents an essential diagnostic tool, the spectrum of findings is worth to be reappraised, and follow-up data are needed. We performed clinical evaluation and brain MRI in 38 CTX patients.

Exome sequencing coupled with mRNA analysis identifies NDUFAF6 as a Leigh gene.

We report here the case of a young male who started to show verbal fluency disturbance, clumsiness and gait anomalies at the age of 3.5years and presented bilateral striatal necrosis. Clinically, the diagnosis was compatible with Leigh syndrome but the underlying molecular defect remained elusive even after exome analysis using autosomal/X-linked recessive or de novo models.

Combined ultrasound and exome sequencing approach recognizes Opitz G/BBB syndrome in two malformed fetuses.

Orofacial clefts are the most common congenital craniofacial anomalies and can occur as an isolated defect or be associated with other anomalies such as posterior fossa anomalies as a part of several genetic syndromes. We report two consecutive voluntary pregnancy interruptions in a nonconsanguineous couple following the fetal ultrasound finding of cleft lip and palate and posterior fossa anomalies confirmed by means of post-termination examination on the second fetus. The quantitative fluorescent PCR, the karyotype, and the comparative genomic hybridization-array analysis after amniocentesis were normal.

MRI-based assessment of the pineal gland in a large population of children aged 0-5 years and comparison with pineoblastoma: part II, the cystic gland.

Introduction: Pineal cysts are a common incidental finding on brain MRI with resulting difficulties in differentiation between normal glands and pineal pathologies. The aim of this study was to assess the size and morphology of the cystic pineal gland in children (0-5 years) and compare the findings with published pineoblastoma cases.

Methods: In this retrospective multicenter study, 257 MR examinations (232 children, 0-5 years) were evaluated regarding pineal gland size (width, height, planimetric area, maximal cyst(s) size) and morphology.