Molecular diagnosis of neurofibromatosis type 1 (NF1) is challenging owing to the large size of the tumour suppressor gene NF1, and the lack of mutation hotspots. A somatic alteration of the wild-type NF1 allele is observed in NF1-associated tumours. Genetic heterogeneity in NF1 was ...
Objective: To retrospectively study clinical and diagnostic characteristics of Neurofibromatosis type 1 - associated epilepsy in childrenBackground: Neurofibromatosis type 1 (NF-1) is the most common neuro-cutaneous phacomatosis in children. Patients with NF1 tend to have multiple neuro-developmental ...
Molecular diagnosis of NF1 is challenging owing to the large size of the gene, the existence of multiple highly identical pseudogenes, the lack of mutational hotspots, and the complex mutational spectrum.11,24 Targeted next-generation sequencing (NGS) can now be applied to the accurate and fast...
NF1-associated gastrointestinal stromal tumors have unique clinical, phenotypic, and genotypic characteristics. Am J Surg Pathol 2005;29:1170–1176. Article PubMed Google Scholar de Raedt T, Cools J, Debiec-Rychter M et al. Intestinal neurofibromatosis is a subtype of familial GIST and results ...
I think this is positive because I think the diagnostic criteria consider all the emerging science on what we're thinking about MS. Some of these changes will essentially allow for an appropriate diagnosis for patients but we'll also prevent misdiagnosis with some of the proposed tools that will...
Chen H, Luthra R, Routbort MJ, Patel KP, Cabanillas ME, Broaddus RR, Williams MD (2018) Molecular Profile of Advanced Thyroid Carcinomas by Next-Generation Sequencing: Characterizing Tumors Beyond Diagnosis for Targeted Therapy. Mol Cancer Ther 17:1575-1584. doi: https://doi.org/10.1158/1535...
The low-grade tumours have favourable diagnosis and correspond to CNS WHO grade 1. They are categorised based on MYB/MYB1 and MAPK pathway alterations as well as on typical histopathology [27]. The high-grade tumours often have mutations in histone genes, and the prognosis is in general ...
1. Introduction Alzheimer's disease (AD) looms as an increasingly formidable challenge, relentlessly progressing as a neurodegenerative disorder that primarily afflicts the elderly population. The clinical portrait it paints is one of enduring memory deficits, cognitive impairment, and profound personality...
Barresi V et al (2015) p-CREB expression in human gliomas: potential use in the differential diagnosis between astrocytoma and oligodendroglioma. Hum Pathol 46(2):231–238 165. Kovach SJ et al (2006) Role of cyclic-AMP responsive element binding (CREB) proteins i...
Achieving early diagnosis of brain tumours The central nervous system (CNS) develops rapidly during the first 7 years of life, which helps to explain why brain tumours are common in children and young people (CYP). The risk of developing a brain tumour is 1 in 4000 and 1 in 1200 for und...