Clinical features and surgical treatments of scoliosis in neurofibromatosis type 1: a systemic review and meta-analysis
ConclusionScoliosis, especially the subtype characterized by dystrophic bony changes, is a significant orthopedic manifestation of NF1. It has an early onset, a tendency to persistently and rapidly progress, and is challenging to deal with. The current review outlines the available evidence from the perspective of natural history, clinical features, and the treatment efficacy and safety of the mainstay surgical options. Patients with NF1 scoliosis will benefit from a better understanding of the disease and evidence based treatment strategies. (Source: European Spine Journal)
Source: European Spine Journal - March 25, 2024 Category: Orthopaedics Source Type: research
Postoperative hyphema due to persistent tunica vasculosa lentis in glaucoma associated with neurofibromatosis —a case report
An 8-month-old girl referred from her pediatrician with a diagnosis of neurofibromatosis type 1 (NF1) presented with an enlarged cloudy cornea of the left eye and a swollen left side of the face. Her left eye had intraocular pressure (IOP) of 21 mm Hg, corneal diameter of 16 mm, ectropion uvea, cup:disk ratio of 0.9, axial length of 28.06 mm, and S-shaped upper lid deformity. Uneventful combined trabeculotomy-trabeculectomy with mitomycin C was performed. On postoperative day 1, there was a new total hyphema that persisted for 2 weeks. (Source: Journal of AAPOS)
Source: Journal of AAPOS - March 24, 2024 Category: Opthalmology Authors: Nader Bayoumi, Nihal El Shakankiry Tags: Short Report Source Type: research
GSE262030 Pharmacogenomic synthetic lethal screens reveal hidden vulnerabilities and new therapeutic approaches for treatment of NF1-associated tumor
Contributors : Kyle B Williams ; Tyler A Jubenville ; David A LargaespadaSeries Type : Expression profiling by high throughput sequencingOrganism :Neurofibromatosis Type 1 (NF1) is a common cancer predisposition syndrome, caused by heterozygous loss of function mutations in the tumor suppressor gene NF1. Individuals with NF1 develop benign tumors of the peripheral nervous system (neurofibromas), originating from the Schwann cell linage after somatic loss of the wild type NF1 allele, some of which progress further to malignant peripheral nerve sheath tumors (MPNST). There is only one FDA approved targeted therapy for sympto...
Source: GEO: Gene Expression Omnibus - March 21, 2024 Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Source Type: research
Efficacy and safety of selumetinib in patients with neurofibromatosis type 1 and inoperable plexiform neurofibromas: a systematic review and meta-analysis
ConclusionOur study demonstrates that selumetinib is effective in patients with NF1 and PN, significantly improving the serious complications associated with PN as well as having tolerable toxicities. Our findings help to increase clinicians' confidence in applying selumetinib and promote the clinical adoption and benefit of the new drug. (Source: Journal of Neurology)
Source: Journal of Neurology - March 19, 2024 Category: Neurology Source Type: research
Endocrine and non-endocrine causes of fatigue in adults with Neurofibromatosis type 1
ConclusionsEndocrine and non-endocrine disorders were equally present in our cohort of NF1 adults with and without fatigue. This suggests that the high prevalence of fatigue in NF1 adults is not explained by these somatic disorders. An alternative explanation for fatigue might be deficits in cognitive functioning and other neuropsychological processes in NF1. Based on our results and review of the literature, we provide a clinical algorithm for the approach to fatigue in NF1 adults, including somatic and psychological assessment. (Source: Frontiers in Endocrinology)
Source: Frontiers in Endocrinology - March 15, 2024 Category: Endocrinology Source Type: research
p53 modulates kinase inhibitor resistance and lineage plasticity in NF1-related MPNSTs
Oncogene. 2024 Mar 13. doi: 10.1038/s41388-024-03000-9. Online ahead of print.ABSTRACTMalignant peripheral nerve sheath tumors (MPNSTs) are chemotherapy resistant sarcomas that are a leading cause of death in neurofibromatosis type 1 (NF1). Although NF1-related MPNSTs derive from neural crest cell origin, they also exhibit intratumoral heterogeneity. TP53 mutations are associated with significantly decreased survival in MPNSTs, however the mechanisms underlying TP53-mediated therapy responses are unclear in the context of NF1-deficiency. We evaluated the role of two commonly altered genes, MET and TP53, in kinome reprogram...
Source: Genomics Proteomics ... - March 14, 2024 Category: Genetics & Stem Cells Authors: Jamie L Grit Lauren E McGee Elizabeth A Tovar Curt J Essenburg Emily Wolfrum Ian Beddows Kaitlin Williams Rachael T C Sheridan Joshua L Schipper Marie Adams Menusha Arumugam Thomas Vander Woude Sharavana Gurunathan Jeffrey M Field Julia Wulfkuhle Emanuel Source Type: research
Robotic resection for splenic artery aneurysm associated with neurofibromatosis type 1: a case report
ConclusionWe encountered a rare case of splenic artery aneurysm in a patient with neurofibromatosis type 1 who was successfully treated with robotic surgery. There is no consensus on treatment modalities for neurofibromatosis-related aneurysms, and endovascular treatment is considered safe and effective; however, surgery remains an important treatment modality. Especially in patients with stable hemodynamic status, robotic surgery may be considered as definitive treatment. To our knowledge, this is the first successfully treated case of a splenic artery aneurysm in a patient with neurofibromatosis type 1. (Source: Journal ...
Source: Journal of Medical Case Reports - March 14, 2024 Category: General Medicine Source Type: research
A Rare Presentation of Recurrent Malignant Peripheral Nerve Sheath Tumor with Glandular Differentiation —A Case Report
We report a case of recurrent MPNST with glandular differentiation arising in the background of neurofibroma in a 20-year-old lady. By immunohistochemistry, MPNST showed focal positive staining for S100 and negative staining for SOX10 while adjacent neurofibroma showed diffuse positivity for S100 and SOX10. The glandular tumor cells showed positive staining for CDX2, Cam5.2, CK19, and CK7 (focal), while negative for SOX10 and S100. MPNST with glandular differentiation is quite rare which may pose a diagnostic challenge. The glandular differentiation in MPNST should be excluded from the metastasis from second primary with t...
Source: Indian Journal of Surgical Oncology - March 14, 2024 Category: Cancer & Oncology Source Type: research
A rare Encounter with Pediatric Malignant Peripheral Nerve Sheath Tumor in Nasal Sinuses and Orbit
AbstractThis case report explores a rare and aggressive Malignant Peripheral Nerve Sheath Tumor (MPNST) in a 7-year-old child affecting nasal sinuses, maxilla, and orbit, an exceptionally uncommon pediatric manifestation unrelated to Neurofibromatosis 1. The child presented with alarming symptoms —nasal obstruction, snoring, epistaxis, and difficulty swallowing—underscoring the case’s urgency. Non-contrast computed tomography revealed an extensive mass infiltrating nasopharynx, nasal cavity, maxillary sinus, ethmoid sinuses, and orbit, causing destructive consequences. Histopathology c onfirmed a high-grade MPNST, ma...
Source: Indian Journal of Otolaryngology and Head and Neck Surgery - March 13, 2024 Category: ENT & OMF Source Type: research
Double-balloon enteroscopy for the detection of GIST in a patient with neurofibromatosis type 1
Rev Esp Enferm Dig. 2024 Mar 12. doi: 10.17235/reed.2024.10351/2024. Online ahead of print.ABSTRACTNF1 is an autosomal dominant hereditary disease, with a prevalence of at least 1 in 4000-5000 population. The diagnosis criteria of NF1 included typical manifestations such as café-au-lait spots, frecking in the axilla or inguinal region, multiple neurofibromas, Lisch nodeules, and distinctive osseous lesions. Genetic testing shows NF1 mutation. It is essential for tumor surveillance in NF1 patients because their life expectancy is about 54 years due to malignancy. A case of NF-1 patient receive laparoscopic small bowel rese...
Source: Revista Espanola de Enfermedades Digestivas - March 12, 2024 Category: Gastroenterology Authors: Liliangzi Guo Jie-Li Chen Li-Sheng Wang Jun Yao Source Type: research
