Background/Objectives: Combined chromosome 7 gain and chromosome 10 loss (+7/−10) is the most frequent cytogenetic alteration and a defining diagnostic criterion for isocitrate dehydrogenase wild-type (IDHwt) glioblastoma. Despite the association with poor prognosis, its clinical and therapeutic significance remains unclear. We aim to systematically review its clinical significance, focusing on prevalence, prognostic value, and potential association with therapeutic resistance in adult patients. Methods: PubMed, Embase, CENTRAL, Scopus, EBSCOhost, and Web of Science were searched from inception to April 2025, using controlled vocabulary and free-text terms. Eligible studies included adult glioblastoma with molecular confirmation of combined chromosome 7 gain and chromosome 10 loss and reported survival or treatment response. Quality was assessed qualitatively, and findings were synthesized descriptively. Results: Of 3249 records, 5 observational studies (523 patients) were included. The signature was present in 60% to 70% of glioblastoma cases and frequently co-occurred with epidermal growth factor receptor amplification and telomerase reverse transcriptase promoter mutations. This alteration was consistently associated with shorter survival (mean, 8–70 weeks) compared with tumors lacking the alteration (19–170 weeks). In one study, the signature was more common in radioresistant tumors (9/20 vs. 1/10). Molecular evidence suggests that this alteration arises early in tumorigenesis. Conclusions: The +7/−10 cytogenetic alteration, common in glioblastoma, is frequently associated with aggressive clinical behavior. While exploratory data suggest a possible association with radiotherapy response, current evidence is insufficient to establish a predictive or therapeutic role. Its principal clinical value lies in diagnosis, molecular classification, and risk stratification. Incorporating cytogenetic testing for this alteration into routine glioblastoma workup may improve risk stratification and guide individualized management.

Introduction: Neurodegenerative disorders (NDs), such as Alzheimer's disease (AD), Parkinson's disease (PD), and amyotrophic lateral sclerosis (ALS), and tauopathies are highly prevalent and cause significant public health concerns globally. Although research has focused on pathological proteins such as ?-amyloid, the growing interest in non-coding RNAs, including piRNAs, is shifting the understanding of neurodegenerative disorder mechanisms. Objective: This review aims to summarize the evidence of the role of piRNAs in neurodegenerative disorder pathogenesis and their potential as diagnostic biomarkers. Materials and methods: A systematic review was conducted following PRISMA guidelines. We included randomized controlled trials, cohort studies, and case-control studies focusing on piRNAs in neurodegenerative disorders. Data were extracted from PubMed and ScienceDirect using search terms related to piRNAs and neurodegenerative diseases published between 2009 and 2024. Results: Eleven studies met the inclusion criteria. These studies highlighted the dysregulation of piRNAs in diseases such as Alzheimer's, Parkinson's, and amyotrophic lateral sclerosis, suggesting that piRNAs influence disease mechanisms by maintaining genomic stability, regulating transposable elements, and participating in protein degradation. Several piRNAs, including piR-hsa-92056, emerged as potential biomarkers with diagnostic accuracy. Discussion: The evidence underscores the crucial role of piRNAs in neurodegeneration. Mechanistic studies reveal that piRNA dysfunction may trigger cascades of genomic instability leading to neuronal death. piRNAs are emerging as valuable therapeutic targets and biomarkers in neurodegenerative disorders. Conclusions: piRNAs hold potential as innovative therapeutic and diagnostic tools in NDs. Future research should focus on developing piRNA-based interventions to prevent neurodegeneration.

Introducción: las lipofuscinosis ceroideas neuronales (LCN) representan un grupo heterogéneo de raras enfermedades neurodegenerativas de origen genético y de predominante aparición durante la infancia. Hasta el momento, se han descrito 14 subtipos clínicos de las LCN según el gen afectado. La LCN tipo 8, específicamente la variante infantil tardía, se caracteriza por crisis epilépticas de difícil control con medicamentos, alteración en la estabilidad de la marcha y un deterioro cognitivo y visual progresivo. Presentación del caso: paciente femenina de 11 años que desde los 3 años cursa con crisis epilépticas con cuadro progresivo, presentando luego inestabilidad en la marcha, disminución de la agudeza visual y deterioro cognitivo. El manejo farmacológico de las crisis epilépticas fue insatisfactorio, a pesar del uso de múltiples fármacos anticrisis en terapia combinada. A través del estudio de genes para epilepsia y ataxia por Next-Generation Sequencing (NGS), se identificó una variante patogénica en estado homocigoto en el gen CLN8. Discusión: aunque se consideraba una entidad de predominante distribución en Europa, hay reportes a nivel mundial que incluyen a países como Argentina y, ahora, el presente caso en Colombia. Las características clínicas de la paciente son similares a lo descrito en la literatura, de acuerdo con el difícil control de las crisis epilépticas, el deterioro del neurodesarrollo y otros trastornos neurológicos. Conclusiones: según los datos encontrados, este es el primer reporte de esta entidad en Colombia. A diferencia de otros casos reportados, un factor importante para el diagnóstico tardío de esta entidad fue el limitado acceso a la consulta genética.

Introduction: Infantile high-grade gliomas are rare malignancies of the central nervous system (CNS) in children. Despite advancements, significant challenges remain in their treatment. A better understanding of their molecular biology may provide new therapeutic options. Clinical case: We report the case of a 30-month-old female diagnosed with an infantile high-grade glioma. Following urgent surgical resection, molecular analysis via a fusion panel identified a CLIP2-MET fusion mutation. This finding suggested potential treatment with crizotinib, a targeted therapy. However, several barriers delayed treatment initiation, including the lack of approval for crizotinib use in CNS tumors in Colombia and concerns about interactions with anticonvulsant therapy. Despite a brief period of clinical stability after initiating treatment, the patient unfortunately succumbed to the disease. Conclusion: Infantile high-grade gliomas pose significant therapeutic challenges, but identifying specific gene fusions, such as CLIP2-MET, may open new avenues for targeted therapy. This case underscores the need for regulatory adaptations to facilitate access to promising treatments when evidence supports their potential efficacy. To our knowledge, this is the first case in Colombia where an infantile glioma was treated with crizotinib, highlighting both the promise and the challenges of precision medicine in pediatric oncology.

Introduction: Diffuse gliomas are highly infiltrative brain tumors associated with poor prognosis and limited therapeutic response. Surgical resection remains a cornerstone of treatment, yet the balance between maximizing extent of resection (EOR) and preserving neurological function remains challenging. Advances in intraoperative technologies and molecular profiling have opened new possibilities for individualized treatment. Materials and methods: A systematic review was conducted in accordance with PRISMA guidelines. Studies evaluating surgical strategies—subtotal resection (STR), gross total resection (GTR), and supramaximal resection (SMR)—were included. Additionally, we assessed the prognostic and therapeutic implications of molecular biomarkers such as IDH mutations, MGMT promoter methylation, and 1p/19q codeletions. Results: IDH-mutant gliomas were consistently associated with longer overall survival and better responses to adjuvant therapies. MGMT promoter methylation correlated with improved overall survival in patients receiving temozolomide. Supramaximal resection outperformed gross total resection and subtotal resection in terms of progression-free and overall survival. Fluorescence-guided surgery and intraoperative imaging modalities reduced residual tumor volume, enhanced resection accuracy, and lowered complication rates. However, aggressive resections were linked to increased risk of postoperative neurological deficits. Discussion: Integrating surgical innovation with molecular characterization enables more precise and effective glioma management. While maximizing the extent of resection is beneficial oncologically, it must be weighed against potential functional impairment. Technological adjuncts can help mitigate this trade-off, especially in eloquent regions. Conclusions: Advanced surgical techniques combined with biomarker-driven strategies improve survival outcomes in diffuse gliomas. Personalized approaches are essential to tailor both surgical and adjuvant treatments, ultimately enhancing quality of life and extending survival.