Category Ranking
98%
Total Visits
921
Avg Visit Duration
2 minutes
Citations
20
Article Abstract
We report a child presenting with pigmentary skin lesions and spinal neurofibromas who was diagnosed molecularly with KRAS mosaicism. We review the previous literature of two cases of congenital skin lesions and neurofibromas and spinal nerve root hypertrophy caused by KRAS variants and highlight this presentation as an important differential diagnosis for neurofibromatosis.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1111/pde.16018 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Pheochromocytoma metastasis to the central nervous system: a case report and systematic review.
Front Endocrinol (Lausanne)
September 2025
Neurosurgery Department, 10th Military Research Hospital and PolyClinic SPZOZ, Bydgoszcz, Poland.
Background: Pheochromocytoma (PCC) is a rare neuroendocrine tumor, with 10-15% of cases showing malignant behavior defined by metastatic spread, including exceptionally rare central nervous system (CNS) involvement. Brain metastases present unique diagnostic and therapeutic challenges due to their potential to impair neurological function. This study reports a case of malignant PCC (mPCC) with CNS metastases and a systematic review to clarify the clinical patterns, management strategies, and prognostic factors.
View Article and Find Full Text PDFPancreatic Hemangioblastoma in a Patient with von Hippel-Lindau Disease: A Case Report.
Surg Case Rep
September 2025
Department of Surgery, Graduate School of Medicine, Kyoto University, Kyoto, Kyoto, Japan.
Introduction: von Hippel-Lindau (VHL) disease is an autosomal dominant hereditary disorder characterized by the development of tumor-like lesions in multiple organs. While central nervous system hemangioblastomas, pancreatic neuroendocrine tumors, and pancreatic cysts are commonly associated with VHL disease, there have been few reported cases of pancreatic hemangioblastoma in patients with VHL disease.
Case Presentation: A male patient in his 30s had been diagnosed with VHL disease and had been followed for cerebellar and spinal hemangioblastomas, and renal cell carcinoma, for which he had undergone several tumor resections, radiation therapy, and a ventriculoperitoneal shunt.
Possibility of increasing linear energy transfer in multi-ion radiotherapy for bone and soft tissue sarcomas.
Med Phys
September 2025
Department of Accelerator and Medical Physics, National Institutes for Quantum Science and Technology (QST), Chiba, Japan.
Background: Multi-ion radiotherapy using carbon, oxygen, and neon ions aims to improve local control by increasing dose-averaged linear energy transfer (LET) in the target. However, there has been limited understanding of how to utilize variables for multi-ion treatment planning such as the selection and arrangement of ion species.
Purpose: An in silico study was conducted to explore the feasibility of increasing a minimum LET, and the optimal selection and arrangement of ion species in multi-ion therapy for increasing LET in tumors of varying sizes mimicking bone and soft tissue sarcomas (BSTS).
The dynamic nature of frailty in metastatic spine disease patients.
J Neurooncol
September 2025
Department of Neurosurgery, University of Michigan, Ann Arbor, MI, USA.
Purpose: Frailty measures are critical for predicting outcomes in metastatic spine disease (MSD) patients. This study aimed to evaluate frailty measures throughout the disease process.
Methods: This retrospective analysis measured frailty in MSD patients at multiple time points using a modified Metastatic Spinal Tumor Frailty Index (MSTFI).
Integrated single-cell and spatial transcriptomics uncover the prognostic, epigenetic, and immunological roles of FANCC in low-grade glioma.
Neurol Res
September 2025
Henan Provincial People's Hospital, Department of Surgery of Spine and Spinal Cord, People's Hospital of Zhengzhou University, Zhengzhou, China.
Background: Immunotherapy holds significant yet underexplored potential for low-grade glioma (LGG) treatment. We therefore interrogated the role of Fanconi Anemia Complementation Group C (FANCC) as a novel immune checkpoint regulator given its spatial correlation with tumor microenvironments and clinical associations with immunosuppressive markers.
Objectives: FANCC is implicated in various tumor progressions; its role in LGG remains unexplored.