AI Article Synopsis
- Neurofibromatosis type I (NF1) is a common genetic disorder affecting the nervous system, with an elevated risk of developing serious tumors despite most patients being mildly affected.
- A case study of a 9-year-old girl illustrates the severe potential of NF1, as she rapidly developed a glioblastoma multiforme and was found to have a novel mutation in the NF1 gene.
- The girl's quick decline and death after diagnosis highlight the life-threatening aspects of NF1, raising questions about the effectiveness of routine MRI screenings in preventing such outcomes.
Article Abstract
Introduction: Neurofibromatosis type I (NF1) is one of the most prevalent genetic diseases of the nervous system. Although the majority of NF1 patients are only mildly affected, the risk of developing malignancies is significantly increased in this population.
Case Report: Here, we present a 9-year-old girl with clinical stigmata of NF1 and a rapidly evolving glioblastoma multiforme. Molecular genetic analysis uncovered a novel missense mutation in Exon 32 of the NF1 gene [c.6032C>A(p.Ala2011Glu)].
Discussion: The girl's death 3 days after diagnosis of the brain tumor exemplifies that NF1 still is a life-threatening disease despite its generally benign course in most patients. However, it remains questionable if a fatal course as reported here can be prevented by routine MRI screening.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1007/s00381-006-0222-4 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Evaluating the impact of performance status in elderly patients with glioblastoma.
J Clin Neurosci
January 2025
Department of Radiation Medicine, Roswell Park Comprehensive Cancer Center, Buffalo, NY, USA; Department of Neurosurgery, Roswell Park Comprehensive Cancer Center, Buffalo, NY 14203, USA. Electronic address:
Background: Glioblastoma (GBM) is a common brain tumor with a poor prognosis. There is a paucity of knowledge regarding optimal treatment approaches for elderly patients with GBM who have a relatively good Karnofsky (KPS) or Eastern Cooperative Oncology Group (ECOG) performance status. This study compared treatment outcomes in older patients (≥65) with GBM based on their performance status, either high (KPS ≥ 70 and ECOG < 2) or low (KPS < 70 and ECOG ≥ 2), who underwent hypofractionated radiotherapy (HFRT) (40 Gy in 15 fractions) versus conventional fractionation (60 Gy in 30 fractions).
View Article and Find Full Text PDFInformative censoring in externally controlled clinical trials: a potential source of bias.
ESMO Open
January 2025
Dana-Farber Cancer Institute, Boston, USA; Harvard School of Public Health, Boston, USA.
Background: Cancer researchers frequently consider the use of single-arm and randomized controlled clinical trial designs that leverage external data. The literature has reported extensively on how the use of external data can introduce bias through a variety of distortion mechanisms. In this article, we focus on a distortion mechanism that is often overlooked: informative censoring.
View Article and Find Full Text PDFHierarchically Engineered Self-Adaptive Nanoplatform Guided Intuitive and Precision Interventions for Deep-Seated Glioblastoma.
ACS Nano
January 2025
Shanghai Frontiers Science Center of Drug Target Identification and Delivery, School of Pharmaceutical Sciences, Shanghai Jiao Tong University, Shanghai 200240, China.
Glioblastoma multiforme (GBM), particularly the deep-seated tumor where surgical removal is not feasible, poses great challenges for clinical treatments due to complicated biological barriers and the risk of damaging healthy brain tissue. Here, we hierarchically engineer a self-adaptive nanoplatform (SAN) that overcomes delivery barriers by dynamically adjusting its structure, surface charge, particle size, and targeting moieties to precisely distinguish between tumor and parenchyma cells. We further devise a AN-uided ntuitive and recision ntervention (SGIPi) strategy which obviates the need for sophisticated facilities, skilled operations, and real-time magnetic resonance imaging (MRI) guidance required by current MRI-guided laser or ultrasound interventions.
View Article and Find Full Text PDFCYP3A5 promotes glioblastoma stemness and chemoresistance through fine-tuning NAD/NADH ratio.
J Exp Clin Cancer Res
January 2025
School of Medicine, Chinese PLA General Hospital, Nankai University, Beijing, China.
Background: Glioblastoma multiforme (GBM) exhibits a cellular hierarchy with a subpopulation of stem-like cells known as glioblastoma stem cells (GSCs) that drive tumor growth and contribute to treatment resistance. NAD(H) emerges as a crucial factor influencing GSC maintenance through its involvement in diverse biological processes, including mitochondrial fitness and DNA damage repair. However, how GSCs leverage metabolic adaptation to obtain survival advantage remains elusive.
View Article and Find Full Text PDFA Wonderful Journey: The Diverse Roles of Adenosine Deaminase Action on RNA 1 (ADAR1) in Central Nervous System Diseases.
CNS Neurosci Ther
January 2025
Jiujiang Clinical Precision Medicine Research Center, Jiujiang, Jiangxi, China.
Background: Adenosine deaminase action on RNA 1 (ADAR1) can convert the adenosine in double-stranded RNA (dsRNA) molecules into inosine in a process known as A-to-I RNA editing. ADAR1 regulates gene expression output by interacting with RNA and other proteins; plays important roles in development, including growth; and is linked to innate immunity, tumors, and central nervous system (CNS) diseases.
Results: In recent years, the role of ADAR1 in tumors has been widely discussed, but its role in CNS diseases has not been reviewed.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!