An arachnoid cyst of the third ventricle of the brain is a rare condition. The paucity of information regarding these cysts makes their accurate diagnosis and optimal treatment a subject of discussion. Despite several techniques that exist for its treatment, endoscopic fenestration of the cyst should be considered the first line of management in symptomatic patients, as it is associated with fewer complications and a better outcome.

Central nervous system (CNS) embryonal tumors are a subset of aggressive pediatric brain tumors, more frequently seen in infants and young children. They share an aggressive imaging appearance with frequent disseminated disease and guarded prognosis; however, patient age, tumor location, and imaging characteristics such as enhancement pattern and peritumoral edema can help with differential diagnosis. In this article, we have reviewed medulloblastoma, atypical teratoid rhabdoid tumor, embryonal tumor with multilayered rosettes as well as newly recognized CNS neuroblastoma, FOXR2-activated and CNS tumor with BCOR internal tandem duplication.

The 2021 WHO Brain Tumor classification update grouped ependymal tumors into 3 anatomic locations-supratentorial, posterior fossa, and spinal. Supratentorial ependymomas now include ZFTA-fusion tumors which are often cystic, hemorrhagic, and show marked edema and YAP1-fusion tumors which demonstrate garlanded peripheral solid enhancement and diffusion-restriction. Posterior fossa ependymomas are now grouped by methylation profile into category A-typical posterior fossa ependymoma and category B which present in older children with smaller lesions with a better prognosis. Spinal ependymoma is relatively unchanged by molecular characterization apart from the new MYCN-altered tumor which has poor prognosis and is often advanced/disseminated at presentation.

Glioneuronal tumors are rare central nervous system neoplasms characterized by mixed neuronal and glial components, predominantly affecting pediatric and young adult populations. This article provides an in-depth analysis of glioneuronal tumors, emphasizing neuroimaging findings critical for diagnosis, differential diagnosis, and surgical planning. MR imaging remains the cornerstone, with advanced techniques like perfusion and functional MR imaging offering additional insights. Prognosis is generally favorable for low-grade tumors, though high-grade variants pose challenges. Innovations in radiomics, molecular profiling, and personalized medicine are transforming management. This article synthesizes current knowledge, highlighting imaging's pivotal role, and future directions.

Advances in molecular and genomic testing have not only discriminated pediatric from adult high grade gliomas but also distinguished new entities in this family, 3 of which are new to the classification. We have reviewed the published literature to date and present the characteristic and most common findings of each type on structural MR imaging, as well as advanced imaging, where available. Prognostic features, particularly in diffuse midline gliomasK27a have also been described, in addition to practice recommendations.

Pediatric diffuse low-grade gliomas (LGGs) are heterogeneous group of central nervous system tumors that typically exhibit a relatively benign clinical course. These tumors represent a unique classification in pediatric neuro-oncology, distinct from adult counterparts in terms of biological behavior, molecular pathways, and clinical presentation. The evolving World Health Organization classification system has increasingly relied on combination of histopathologic, genetic, and radiologic criteria to define and distinguish among pediatric glioma subtypes. This article aims to synthesize current knowledge regarding the clinical, molecular, and radiologic features of these pediatric diffuse LGGs and highlights the nuances in diagnosis, treatment approaches, and prognostic outlook.

The last decade has seen major advances in our understanding of the biology of pediatric brain and spinal cord tumors and why they are fundamentally different from their adult counterparts. Many of these advances have been adapted into the latest WHO classification of tumors of the central nervous system. This article summarizes the major changes to the WHO classification in this area, highlighting the key histopathologic and molecular features of these new entities.

Published in 2021, the 5th edition of the World Health Organization central nervous system tumor classification introduced major changes to the categorization of pediatric brain and spinal cord tumors. Greater focus has been placed on the integration of molecular genetics, highlighting its emerging importance in the diagnosis, prognostication, and targeted therapy of these tumors. New molecularly defined tumors, reclassification of existing tumors, and revised nomenclature are discussed in this article, and subsequent articles provide further information on this new central nervous system tumor landscape in pediatric neuroradiology.

Computer-aided diagnosis using deep learning has emerged as a transformative tool in pathology that enables the automated and consistent interpretation of whole slide images. Among the key tasks in pathological image analysis, classification-based deep learning models have shown promise in distinguishing cancer subtypes and predicting genetic or molecular features. However, challenges remain due to the limited availability of high-quality labeled datasets, particularly for rare cancers, which hinders the widespread applicability of conventional data-driven approaches.

Surgery, chemotherapy, and radiation therapy are currently used for the treatment of malignant tumors, and immunotherapy has recently been established as the fourth method for treating cancer. Therefore, cancer cells and their surrounding microenvironments have been the focus of attention. High endothelial venules (HEVs) that mediate lymphocyte extravasation into lymphoid organs have been reported in cancerous tissues. However, the role of HEVs remains controversial. In this study, the clinical significance of HEVs in patients with oral squamous cell carcinoma (OSCC) was examined.

Oral squamous cell carcinoma (OSCC), the most frequent cancer of the oral cavity, mostly arises from the mucosal epithelium and rarely from the odontogenic epithelium. However, it is unclear whether they share the same mechanisms of OSCC development. Recently, we clarified comprehensive gene expression patterns in pathological specimens of two types of OSCC (odontogenic epithelial and mucosal epithelial origin). In addition, the enrichment analysis demonstrated that the "COMPLEMENT" gene set was elevated in these tumor lesions. However, the role of this system in OSCC tumorigenesis remains unclear. Here, we aimed to investigate the involvement of complement components in OSCC development.

The in vitro mouse lymphoma assay cell (MLA) is one of the most widely practiced assays in genetic toxicology. MLA detects forward mutations at the thymidine kinase (Tk) locus of the L5178Y (Tk+/- 3.7.2C) cell line derived from a mouse thymic lymphoma. This assay is capable of detecting a wide range of genetic events including point mutations, deletions (intragenic) and multilocus, chromosomal rearrangements, mitotic recombination and non-disjunction. There are two equally accepted versions of the assay, one using soft agar cloning and the second method using liquid media cloning in 96-microwell plates. There are two morphologically distinct types of mutant colonies recovered in the MLA: small and large colony mutants. The induction of small colony mutants is associated with chemicals inducing gross chromosomal aberrations whereas the induction of large mutant colonies is generally associated with chemicals inducing point mutations. The source and karyotype of the cell line as well as the culture conditions are important variables that could influence the assay performance. The assay when performed according to the standards recommended by the International Workshops on Genotoxicity Testing (IWGT) and the Organization of Economic Cooperation and Development Test Guideline 490 is capable of providing valuable genotoxicity hazard information as part of the overall safety assessment process of various classes of test substances.

Breast cancer (BC) is the second leading cause of cancer-related deaths among women, primarily due to late-stage detection and therapy resistance. Therefore, identifying novel therapeutic targets is critical for improving BC outcomes. Long non-coding RNAs (lncRNAs) have recently emerged as promising candidates for cancer prognosis and treatment, owing to their ability to modulate oncogenic signaling pathways. Among them, the tumor-suppressive lncRNA Nkx2-2as has shown inhibitory effects in certain cancers; however, its role in BC remains poorly understood. To the best of our current knowledge, the relationship between Nkx2-2as and the Wnt/β-catenin signaling pathway in BC has not been previously characterized. To address this, we used computational tools including lncHUB2, RPISeq, GeneMANIA, TCGA and ENCORI to predict functional interactions of Nkx2-2as, which guided our focus toward its involvement in the Wnt/β-catenin signaling pathway, a key driver in BC progression. We hypothesized that Nkx2-2as may act as a pharmacologically actionable molecule in this context. To test this, MCF-7 breast cancer cells were transfected with either Nkx2-2as siRNA or an Nkx2-2as-pcDNA3.1 overexpression vector, individually and in combination. Overexpression of Nkx2-2as led to a significant reduction in proliferation (~ 85%), suppression of migration, and increased apoptosis. Conversely, silencing Nkx2-2as enhanced tumorigenic properties. Mechanistic analyses revealed that Nkx2-2as downregulates oncogenic targets such as β-catenin, TCF7 and MYC, while upregulating tumor suppressors AXIN2 and BTG2, the latter being a known inhibitor of β-catenin. Western blot analysis confirmed the transcriptional trends, showing decreased β-catenin and MYC and elevated BTG2 protein levels upon Nkx2-2as overexpression. These findings indicate that Nkx2-2as acts as a negative regulator of Wnt/β-catenin signaling through BTG2 activation, suggesting its potential role as a tumor suppressor and a candidate for RNA-based therapeutic strategies in BC. Targeting the Nkx2-2as/BTG2 axis may provide a conceptual framework for future studies aimed at developing RNA-based interventions to enhance chemosensitivity and overcome therapy resistance in BC.

Accurate brain tumor classification is crucial for advancing diagnostic precision and streamlining treatment strategies. This chapter presents a brain tumor image classification methodology leveraging deep learning techniques, specifically convolutional neural networks (CNNs). Our method exploits CNNs to autonomously extract salient features from medical imaging data, enabling the differentiation of tumor types, including gliomas, meningiomas, and metastatic tumors. The architecture of our CNN comprises several convolutional layers, pooling layers, and fully connected layers designed to capture and interpret complex patterns in brain tumor imagery effectively. We enhance the model's performance through comprehensive data augmentation and rigorous hyperparameter tuning, achieving significant improvements in classification accuracy. Extensive experimental evaluations demonstrate the efficacy of our approach, underscoring its potential to significantly enhance diagnostic processes by providing accurate, automated tumor classification. The advancements detailed herein contribute to the broader application of machine learning in medical imaging, promising substantial impacts on patient care and treatment optimization.

Lipidomics identifies and analyzes the composition of intact lipid molecules within biological systems. Techniques including mass spectrometry enhance lipid coverage; however, the loss of ion connectivity and the generation of large datasets complicate precise feature annotation. Given the complexity of lipidomic data, advanced computational methodologies are essential for precise analysis. Herein, we efficiently explored lipidome alterations in human neuroblastoma SK-N-SH cells exposed to amyloid-beta, a peptide that appears to play a crucial role in the pathology of Alzheimer's disease. The derived datasets were analyzed using the R programming language, employing tools such as lipidr for lipid species identification and significance and ggplot2 for data visualization. Our results revealed significant changes in phospholipid levels under amyloid-beta exposure with emphasis on PE 16:0-18:1, PC 18:2-16:1, and PC 20:2-18:0, highlighting the complex and multifaceted interactions of lipid markers in the pathophysiology of Alzheimer's disease and providing deeper insights into their potential roles in disease progression.

Infantile hemangiomas (IHs) are the most prevalent noncancerous childhood tumors, affecting up to 10% of infants. IHs develop de novo and following excessive proliferation in the first 4-9 months; they typically degenerate spontaneously in 4-7 years. While treatment is not usually required, 10-15% of cases necessitate clinical or surgical intervention due to functional impairments. Here, we present a complicated capillary IH case, from a clinical and genetic perspective.

Gorlin syndrome (GS) or basal cell nevus syndrome type 1 (BCNS1) is a rare genetic disease belonging to the spectrum of genodermatoses. Here, we present a case with BCNS1 that was caused by haploinsufficiency of PTCH1 gene, which is associated with BCNS1.

Afatinib, an irreversible ErbB family inhibitor, is approved for the treatment of non-small cell lung cancer (NSCLC) with both common and selected uncommon EGFR mutations. Evidence in end-stage renal disease (ESRD) patients undergoing hemodialysis (HD) is scarce, especially with pharmacokinetic (PK) data. Here, we report the case of a patient with metastatic NSCLC harboring an EGFR G719C mutation who was successfully treated with afatinib during regular hemodialysis. Afatinib was initiated at 20 mg once daily under fasting conditions and later escalated to 30 mg once daily. PK sampling was conducted on two consecutive HD days at each dose level. At 20 mg, the trough concentration (Ctrough) was 4.02 ng/mL, with peak concentrations (Cmax) of 6.09 and 8.75 ng/mL, both lower than reported values in patients with normal renal function. At 30 mg, Ctrough increased to 26.3 ng/mL, while Cmax values of 48.2 and 55.5 ng/mL were comparable to steady-state exposures in patients with preserved renal function. Notably, no adverse events were observed, and the patient has maintained a partial response for over eight months. This case suggests that afatinib can be administered without major dose modification in HD patients, with PK data indicating minimal impact of dialysis and underscoring the importance of accumulating real-world evidence in this underrepresented population.

The systemic study of thymic mucosa-associated lymphoid tissue (MALT) lymphoma remains lacking. The objective of this study was to characterize the clinical features and outcomes of patients with thymic MALT lymphoma.

This phase 1 study aimed to determine the maximum tolerated dose (MTD) and evaluate the safety and preliminary efficacy of rucaparib (RUB), a poly(adenosine diphosphate ribose) polymerase (PARP) inhibitor, combined with liposomal irinotecan (nal-IRI) and 5-fluorouracil (5-FU) in metastatic gastrointestinal (GI) cancers. RUB targets DNA repair pathways, showing efficacy in tumors with homologous recombination deficiency, such as BRCA mutations. Preclinical data suggest synergy with irinotecan, but overlapping toxicities pose challenges.