Results 81 to 90 of about 33,733 (216)

Diagnosis and management of neurofibromatosis type 1 in Arabian Gulf Cooperation Council Region: challenges and recommendations

open access: yesFrontiers in Oncology
Neurofibromatosis type 1 (NF1) is a complex multisystem genetic disorder that requires long-term, age-specific monitoring and multidisciplinary care. NF1 symptom burden can significantly affect the quality of life and impose a substantial economic burden
Fahad A. Bashiri   +12 more
doaj   +1 more source

Myeloablative Busulfan, Fludarabine and Melphalan Conditioning for Allogeneic Hematopoietic Stem Cell Transplantation in Childhood Myeloid Malignancy

open access: yesAsia-Pacific Journal of Clinical Oncology, EarlyView.
We report our single‐center experience of transplant outcomes with a busulfan, fludarabine and melphalan‐based conditioning regimen for children < 18 years of age. The regimen was shown to be well tolerated and effective for heavily pretreated children with high‐risk myeloid malignancies prior to allogeneic hematopoietic stem cell transplant.
Mayank Dhamija   +6 more
wiley   +1 more source

Impact of Surgical Approach on Survival and Recurrence in Borderline and Malignant Phyllodes Tumours: A Systematic Review and Meta‐Analysis

open access: yesANZ Journal of Surgery, EarlyView.
ABSTRACT Background Phyllodes tumours of the breast exhibit a spectrum of biologic behaviour, with a predisposition to recur locally and metastasize distantly in their malignant form. There are limited data regarding the optimal surgical approach. Objectives Our systematic review and meta‐analysis aimed to determine the impact of breast conserving ...
Christopher G. Harris   +6 more
wiley   +1 more source

Seizures in children with neurofibromatosis type 1: is neurofibromatosis type 1 enough?

open access: yesItalian Journal of Pediatrics, 2018
Background Neurofibromatosis type 1 (NF1) is related to a generally increased prevalence of seizures. The mechanism underlying the increased predisposition to seizures has not been fully elucidated. The aim of the study was to evaluate the role of NF1 in
Claudia Santoro   +10 more
doaj   +1 more source

Clinical and molecular features of primary gliosarcoma with digital spatial whole‐transcriptome analysis of glial and mesenchymal components

open access: yesBrain Pathology, EarlyView.
We report the clinical and genetic features of an institutional cohort of primary adult gliosarcomas compared to glioblastoma. We performed spatial whole‐transcriptome analysis on glial and sarcomatous regions of four cases to compare gene expression profiles and validated differential protein expression for two markers in tissue sections.
Matthew D. Wood   +6 more
wiley   +1 more source

NF1 expression profiling in IDH-wildtype glioblastoma: genomic associations and survival outcomes

open access: yesActa Neuropathologica Communications
Background NF1 inactivation is associated with sensitivity to MEK inhibitor targeted therapy in low-grade and some high-grade gliomas. NF1 loss may also be a harbinger of exploitable vulnerabilities in IDH-wildtype glioblastoma (GBM).
Michael Chang   +17 more
doaj   +1 more source

Clonal lineage of high grade serous ovarian cancer in a patient with neurofibromatosis type 1

open access: yesGynecologic Oncology Reports, 2018
Neurofibromatosis type 1 (NF1) is caused by mutations in the NF1 gene encoding neurofibromin, which negatively regulates Ras signaling. NF1 patients have an increased risk of developing early onset breast cancer, however, the association between NF1 and ...
Eric J. Norris   +11 more
doaj   +1 more source

Patient‐derived surgical samples reveal the cellular and molecular signatures of glioblastoma infiltration in distinct radiological zones

open access: yesBrain Pathology, EarlyView.
Integrated histological and transcriptional profiling of the glioblastoma periphery reveals clinically relevant tumor infiltration beyond MRI‐defined boundaries. MRI‐guided biopsies from contrast‐enhancing (CE), non‐contrast‐enhancing (nCE), edema (E), and radiologically normal (N) regions demonstrate that nCE areas frequently retain neoplastic and ...
Olaya de Dios   +18 more
wiley   +1 more source

Neurofibromin haploinsufficiency results in altered spermatogenesis in a mouse model of neurofibromatosis type 1.

open access: yesPLoS ONE, 2018
The fertility of men with neurofibromatosis 1 (NF1) is reduced. Despite this observation, gonadal function has not been examined in patients with NF1. In order to assess the role of reduced neurofibromin in the testes, we examined testicular morphology ...
Harleen Chohan   +6 more
doaj   +1 more source

Evolving Pathology of Anaplastic Thyroid Carcinoma: Integrating Morphology, Immunohistochemistry, and Molecular Insights

open access: yesCancer Science, EarlyView.
Schematic overview of progression from differentiated thyroid carcinoma (DTC) to anaplastic thyroid carcinoma (ATC). ATC primarily develops via two pathways: the BRAF p.V600E‐mutated papillary thyroid carcinoma (PTC) pathway and the RAS‐mutated pathway. The origin and progression of BRAF/RAS‐wildtype ATC remain unclear.
Toru Odate, Tetsuo Kondo
wiley   +1 more source

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