Vascular neuroblastoma

BACKGROUND: We aimed to correlate alterations in the rat sarcoma virus (RAS)/mitogen-activated protein kinase pathway in vascular anomalies to the clinical phenotype for improved patient and treatment stratification. METHODS AND RESULTS: This retrospective multicenter cohort study included 29 patients with extracranial vascular anomalies containing mosaic pathogenic variants (PVs) in genes of the RAS/mitogen-activated protein kinase pathway. Tissue samples were collected during invasive treatment or clinically indicated biopsies...

BACKGROUND AND AIMS: Surgery is pivotal in the management of neuroblastoma (NB), particularly in patients with Image-Defined Risk Factors (IDRFs). The International Neuroblastoma Surgical Report Form (INSRF) was introduced to enhance surgical reporting quality and analyze the defining role of extensive surgery in NB. This study reports our experience with INSRF and explores new criteria for evaluating the extent of surgical resection. METHODS: INSRF was deployed to critically analyze 166 patients with abdominal or pelvic NB who underwent surgery at our department between October 2021 and June 2023...

Neuroblastoma (NB) is one of the highly vascularized childhood solid tumors, and understanding the molecular mechanisms underlying angiogenesis in NB is crucial for developing effective therapeutic strategies. B-cell receptor-associated protein 31 (BAP31) has been implicated in tumor progression, but its role in angiogenesis remains unexplored. This study investigated BAP31 modulation of pro-angiogenic factors in SH-SY5Y NB cells. Through protein overexpression, knockdown, antibody blocking, and quantification experiments, we demonstrated that overexpression of BAP31 led to increased levels of vascular endothelial growth factor A (VEGFA) and Galectin-3 (GAL-3), which are known to promote angiogenesis...

Neuroblastoma (NB) is a childhood cancer in sympathetic nervous system cells. NB exhibits cellular heterogeneity, with adrenergic and mesenchymal states displaying distinct tumorigenic potentials. NB is highly vascularized, and blood vessels can form through various mechanisms, including endothelial transdifferentiation, leading to the development of tumor-derived endothelial cells (TECs) associated with chemoresistance. We lack specific biomarkers for TECs. Therefore, identifying new TEC biomarkers is vital for effective NB therapies...

The aim of this study is to review the indications of pedicled flaps and analyze the results. A observational retrospective study of under 18-year-old oncology patients who required reconstructive surgery with pedicled flaps between 2011 and 2022 was performed. Demographic and clinical variables, indications, complications, and outcomes were collected. 236 patients were reviewed and 13 met inclusion criteria, eight girls and five boys (mean age: 10.6 years). Indications were Ewing's sarcoma (5), osteosarcoma (5), neuroblastoma, desmoid tumor, and neurofibroma...

Neuroblastoma (NB) is the most frequent paediatric extracranial solid tumour. The surgical management of these tumours in newborns changed recently, performing resections in cases with tumour size increase after birth. Minimally invasive procedures were mostly reported in cases without pre-operative image-defined risk factors (IDRFs), defined by vascular and organ involvement. Thoracoscopic resection represents a minority of the overall surgical procedures for neuroblastic tumour management, as the posterior mediastinum is one of the least frequent locations of NB...

Metastatic tumors to the eye and eyelid are generally seen in patients with disseminated metastases in the setting of advanced disease. Occasionally, they can present as the first sign of occult malignancy. The choroid is the most common site of intraocular metastases secondary to its dense vascular supply. Similar to the eye, metastatic tumors to the eyelid can present with variety of clinical findings and are most often seen in patients with known history of cancer. The most common skin malignancy that can spread to ocular structures is cutaneous melanoma, whereas the most common non-cutaneous malignancy is breast cancer followed by lung cancer...

Pediatric tumors of the eye and orbit can be benign or malignant as well as congenital or acquired and are usually distinctively different than those seen in adults. Although most of these neoplasms are benign (eg, dermoid cyst, chalazion, molluscum), their location near and within a vital organ can result in serious dermatologic and ophthalmologic sequelae. Lesions discussed include vascular lesions, retinoblastomas (the most common primary pediatric intraocular malignancy), rhabdomyosarcoma (the most common primary pediatric orbital malignancy), Langerhans cell histiocytosis, and metastatic lesions to the orbit (neuroblastoma, Ewing sarcoma)...

PURPOSE: This study evaluated the abdominal aortic diameter in high-risk neuroblastoma (NB) patients and the risk of aortic narrowing following intensive treatment. METHODS: We measured the aortic diameter at four specific levels of the abdominal aorta (diaphragmatic crus, celiac axis, and the root of the superior (SMA) and inferior (IMA) mesenteric arteries) on contrast CT scans. The control group consisted of 56 children with non-oncologic disorders, while the NB group included 35 patients with high-risk abdominal NB...

BACKGROUND: Neuroblastoma is one common pediatric malignancy notorious for high temporal and spatial heterogeneities. More than half of its patients develop distant metastases involving vascularized organs, especially the bone marrow. It is thus necessary to have an economical, noninvasive method without much radiation for follow-ups. Radiomics has been used in many cancers to assist accurate diagnosis but not yet in bone marrow metastasis in neuroblastoma. METHODS: A total of 182 patients with neuroblastoma were retrospectively collected and randomly divided into the training and validation sets...

BACKGROUND: Surgery plays an important role in the treatment of neuroblastoma. Perioperative complications may impact the course of neuroblastoma treatment. To date, comprehensive analyses of complications and risk factors have been lacking. METHODS: Patients with retroperitoneal neuroblastoma undergoing tumor resection were retrospectively analyzed between 2014 and 2021. The data collected included clinical characteristics, operative details, operative complications and postoperative outcomes...

In cancer patients, hyponatremia is detected in about 40% of cases at hospital admission and has been associated to a worse outcome. We have previously observed that cancer cells from different tissues show a significantly increased proliferation rate and invasion potential, when cultured in low extracellular [Na+ ]. We have recently developed an animal model of hyponatremia using Foxn1nu/nu mice. The aim of the present study was to compare tumor growth and invasivity of the neuroblastoma cell line SK-N-AS in hyponatremic vs...

The zinc finger transcription factor gene, CASZ1/Castor (Castor zinc finger 1), initially identified in Drosophila, plays a critical role in neural, cardiac, and cardiovascular development, exerting a complex, multifaceted influence on cell fate and tissue morphogenesis. During neurogenesis, CASZ1 exhibits dynamic expression from early embryonic development to the perinatal period, constituting a key regulator in this process. Additionally, CASZ1 controls the transition between neurogenesis and gliomagenesis...

Primitive neuroectodermal tumors of the central nervous system, or CNS neuroblastoma, are rare neoplasms in children. Recently, methylation profiling enabled the discovery of four distinct entities of these tumors. The current treatment paradigm involves surgical resection followed by chemotherapy and radiation. However, upfront surgical resection carries high surgical morbidity in this patient population due to their young age, tumor vascularity, and often deep location in the brain. We report a case of CNS neuroblastoma that can be successfully treated with neoadjuvant chemotherapy followed by minimally invasive laser interstitial thermal therapy and radiation...

Objective: To investigate the clinicopathological features and differential diagnosis of olfactory carcinoma (OC). Methods: Twenty-one cases of sinonasal tumors, including those initially diagnosed as olfactory neuroblastoma (ONB) and those with uncertain diagnosis, were collected from the Department of Pathology, the First Affiliated Hospital of University of Science and Technology of China (Anhui Provincial Hospital) from January 2016 to August 2022, among which 3 cases were reclassified as OC. The clinicopathological features were investigated, and the remaining 18 cases were used as control...

Infantile hemangioma (IH) is the most common neoplasm in children, but it may mimic other types of vascular anomalies or nonvascular benign and malignant tumors. In most cases, the clinical appearance, time of onset, and pattern of involution facilitate its diagnosis. Imaging evaluation is not always needed since the IH features at clinical presentation are usually characteristic, but when needed, US and frequently MRI are the imaging modalities of choice. Clinical photography or photographic documentation plays a central role in monitoring these lesions over their clinical course...

OBJECTIVE: There is little information on the regulation of cholesterol homeostasis in the brain. Whether cholesterol crosses the blood-brain barrier is under investigation, but the present understanding is that cholesterol metabolism in the brain is independent from that in peripheral tissues. Lipoprotein receptors from the LDL receptor family (LRPs) have key roles in lipid particle accumulation in cells involved in vascular and cardiac pathophysiology, however, their function on neural cells is unknown...

Neck masses are frequent in the pediatric population and are usually divided into congenital, inflammatory, and neoplastic. Many of these lesions are cystic and are often benign. Solid masses and vascular lesions are relatively less common, and the imaging appearances can be similar. This article reviews the clinical presentation and imaging patterns of pediatric solid and vascular neck masses.

BACKGROUND: Clinical collapse in the newborn most often occurs secondary to sepsis, delivery complications, congenital cardiac defects, or inborn errors of metabolism. We report on a neonate with respiratory, cardiac, and hepatic failure, with disproportionate metabolic acidosis and systemic hypertension, found to be caused by a congenital neuroblastoma. CASE DESCRIPTION: A term infant presented to our Level IV NICU via emergent transport at 12 hours of life with clinical and laboratory findings consistent with respiratory, cardiac, and hepatic failure...

Neuroblastoma is a complex and aggressive type of cancer that affects children. Current treatments involve a combination of surgery, chemotherapy, radiotherapy, and stem cell transplantation. However, treatment outcomes vary due to the heterogeneous nature of the disease. Computational models have been used to analyse data, simulate biological processes, and predict disease progression and treatment outcomes. While continuum cancer models capture the overall behaviour of tumours, and agent-based models represent the complex behaviour of individual cells, multiscale models represent interactions at different organisational levels, providing a more comprehensive understanding of the system...