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Adult glioblastoma with Lynch syndrome-associated mismatch repair deficiency forms a distinct high-risk molecular subgroup.
Free Neuropathol
January 2024
NeuroMarkers, Houston, Texas, USA.
Glioblastoma is the most frequent and malignant primary brain tumor. Although the survival is generally dismal for glioblastoma patients, risk stratification and the identification of high-risk subgroups is important for prompt and aggressive management. The G1-G7 molecular subgroup classification based on the MAPK pathway activation has offered for the first time a non-redundant, all-inclusive classification of adult glioblastoma.
View Article and Find Full Text PDFClinical features and molecular genetics of patients with RASopathies: expanding the phenotype with rare genes and novel variants.
Eur J Pediatr
December 2024
Department of Medical Genetics, Dr. Behçet Uz Children's Hospital, Izmir, Turkey.
Unlabelled: The RASopathies are a group of disorders resulting from a germline variant in the genes encoding the Ras/mitogen-activated protein kinase pathway. These disorders include Noonan syndrome (NS), cardiofaciocutaneous syndrome (CFC), Costello syndrome (CS), Legius syndrome (LS), and neurofibromatosis type 1 (NF1), and have overlapping clinical features due to RAS/MAPK dysfunction. In this study, we aimed to describe the clinical and molecular features of patients exhibiting phenotypic manifestations consistent with RASopathies.
View Article and Find Full Text PDFRefractory Chylothorax and Ventricular Hypertrophy Treated with Trametinib in a Patient with Noonan Syndrome: 18-Month Follow-Up.
Children (Basel)
October 2024
Medical Genetics Unit, Santobono-Pausilipon Children's Hospital, 80129 Naples, Italy.
RASopathies are a group of genetic syndromes caused by germline mutations in genes involved in the RAS/Mitogen-Activated Protein Kinase signaling pathway, which regulates cellular proliferation, differentiation, and angiogenesis. Despite their involvement at different levels of this pathway, RASopathies share overlapping clinical phenotypes. Noonan syndrome is the most prevalent RASopathy, with an estimated incidence of 1 in 2500 live births, and it is typically inherited in an autosomal dominant manner, with 50% of cases involving gain-of-function mutations in the PTPN11 gene.
View Article and Find Full Text PDFNovel paediatric case of a spinal high-grade astrocytoma with piloid features in a patient with Noonan Syndrome.
NPJ Precis Oncol
October 2024
Kids Cancer Centre, Sydney Children's Hospital, Randwick, NSW, Australia.
Noonan Syndrome (NS) is associated with an increased risk of low-grade central nervous system tumours in children but only very rarely associated with high-grade gliomas. Here we describe the first reported case of a spinal high-grade astrocytoma with piloid features (HGAP) in a child with NS. This case was a diagnostic and treatment dilemma, prior to whole-genome germline and tumour sequencing, tumour transcriptome sequencing and DNA methylation analysis.
View Article and Find Full Text PDFAn Unexpected Finding of a PTPN11 Germline Mutation in a Patient With a Melanocytic Lesion With a Somatic MAP2K1 Mutation. Coincidence or Not?
J Cutan Pathol
January 2025
Department of Pathology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
Article Synopsis
- - Melanocytic tumors are categorized by their clinical appearance and histological features, but molecular diagnostics are increasingly being used to differentiate these lesions, according to WHO standards.
- - A case study revealed that molecular testing of an atypical melanocytic lesion uncovered a mutation in the MAP2K1 gene and an unexpected germline mutation in PTPN11, which is related to Noonan syndrome.
- - The findings suggest a possible link between the mutations in the RAS-MAPK pathway and the atypical melanocytic lesion, indicating that as molecular testing grows in use, discoveries of unexpected germline mutations may also rise.
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