Neurocutaneous melanocytosis (NCM) is a rare, congenital condition primarily affecting children, characterized by large or giant congenital melanocytic nevi (L/GCMN) on the skin and pigmented lesions in the brain. The presence of pigmented lesions in the brain often leads to neurological symptoms like headaches, seizures, and hydrocephalus, typically manifesting before age two. Melanocytic lesions in the brain can range from benign melanocytosis to malignant melanoma. NCM is nearly always fatal if symptomatic, with a high risk of malignant transformation. Patients with larger skin nevi with neurological involvement tend to have a greater lifetime risk of malignancy. There is no specific treatment, and current therapies focus on palliative care, including surgery, radiation, and chemotherapy. Malignant transformation into melanoma requires aggressive treatments like surgery, radiation, and chemotherapy. Despite these approaches, outcomes remain poor, with no definitive cure for NCM. This study aims to review and critically evaluate the current therapeutic strategies for NCM while also exploring prospective avenues for developing specific and effective treatments. It aims to highlight recent advancements in the molecular understanding of NCM and examine how these insights may inform the development of novel therapeutic approaches. Additionally, the study will address the significant unmet medical needs associated with this rare and often fatal condition, emphasizing the importance of continued research and innovation in its management.
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http://dx.doi.org/10.21873/anticanres.17341 | DOI Listing |
Neuron
December 2024
Roche Pharma Research and Early Development, Neuroscience and Rare Diseases, Roche Innovation Center, Basel, Switzerland. Electronic address:
Poor understanding of the cellular and molecular basis of clinical and genetic heterogeneity in progressive multiple sclerosis (MS) has hindered the search for new effective therapies. To address this gap, we analyzed 632,000 single-nucleus RNA sequencing profiles from 156 brain tissue samples of MS and control donors to examine inter- and intra-donor heterogeneity. We found distinct cell type-specific gene expression changes between MS gray and white matter, highlighting clear pathology differences.
View Article and Find Full Text PDFChilds Nerv Syst
December 2024
Department of Neurosurgery, Sapporo Medical University School of Medicine, Sapporo, Japan.
Extraventricular neurocytoma (EVN) is a rare neuronal tumor with a marked tendency towards ganglionic or glial differentiation. Although EVN commonly occurs in young adults, congenital cases are extremely rare, and standardized therapeutic strategies remain undetermined. The presence of atypical features such as increased mitotic activity on histological analysis is correlated with a higher rate of recurrence and poor prognosis.
View Article and Find Full Text PDFClin Exp Metastasis
December 2024
Department of Radiation Oncology, University Hospital Schleswig-Holstein Campus Kiel, Arnold-Heller-Str.3, 24105, Kiel, Germany.
Metastasis-directed therapy (MDT) for oligometastatic breast cancer (≤ 5 metastases) has shown little effect in specific scenarios of randomized trials. Therefore, we aimed to assess outcomes after metastasis-directed stereotactic radiotherapy (SRT) in various clinical scenarios. We conducted an international retrospective cohort study in thirteen centers including breast cancer patients receiving SRT to any metastatic site.
View Article and Find Full Text PDFEur J Neurol
January 2025
Spinal Cord Injury Center, Balgrist University Hospital, University of Zurich, Zurich, Switzerland.
Background: Magnetic resonance imaging may suggest spinal cord compression and structural lesions in degenerative cervical myelopathy (DCM) but cannot reveal functional impairments in spinal pathways. We aimed to assess the value of contact heat evoked potentials (CHEPs) in addition to MRI and hypothesized that abnormal CHEPs may be evident in DCM independent of MR-lesions and are related to dynamic mechanical cord stress.
Methods: Individuals with DCM underwent neurologic examination including segmental sensory (pinprick, light touch) and motor testing.
Eur J Neurol
January 2025
Department of Neurology, Pusan National University Hospital, Pusan National University School of Medicine and Biomedical Research Institute, Busan, South Korea.
Background And Purpose: The dorsolateral portion of the caudal pons contains the vestibular nucleus (VN) and inferior cerebellar peduncle (ICP) that play important roles in conveying and processing vestibular and ocular motor signals. This study aimed to characterize ocular motor abnormalities along with their anatomical correlations in dorsolateral pons (DLP) lesions.
Methods: We analyzed clinical features, and results of neuro-otological evaluations and neuroimaging of 18 patients with unilateral DLP lesions (17 with DLP infarction and 1 with cavernous malformation) from among 506 patients with pontine infarction in a stroke registry.
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