Neurofibromatosis type 1: pediatric aspects and review of genotype–phenotype correlations

C Peduto, M Zanobio, V Nigro, S Perrotta, G Piluso… - Cancers, 2023 - mdpi.com
Simple Summary In the last few years, an increasing number of genotype–phenotype
correlations has been described for neurofibromatosis type 1 (NF1), impacting on the clinical …

Mediastinal tumours and pseudo-tumours: a comprehensive review with emphasis on multidisciplinary approach

MR Ghigna, VT de Montpreville - European Respiratory Review, 2021 - Eur Respiratory Soc
The diagnosis of a mediastinal mass may be challenging for clinicians, since lesions arising
within the mediastinum include a variety of disease entities, frequently requiring a …

New model systems and the development of targeted therapies for the treatment of neurofibromatosis type 1-associated malignant peripheral nerve sheath tumors

KB Williams, DA Largaespada - Genes, 2020 - mdpi.com
Neurofibromatosis Type 1 (NF1) is a common genetic disorder and cancer predisposition
syndrome (1: 3000 births) caused by mutations in the tumor suppressor gene NF1. NF1 …

[HTML][HTML] Targeted inhibition of glutaminase as a potential new approach for the treatment of NF1 associated soft tissue malignancies

TN Sheikh, PP Patwardhan, S Cremers, GK Schwartz - Oncotarget, 2017 - ncbi.nlm.nih.gov
Many cancer cells rely on glutamine as the source of carbon molecules to feed the
biosynthetic pathways and are often addicted to glutaminolysis. Inhibitors of glutaminase …

[HTML][HTML] Malignant peripheral nerve sheath tumor with and without neurofibromatosis type 1

RAT Vasconcelos, PG Coscarelli… - Arquivos de neuro …, 2017 - SciELO Brasil
Objective In this study, we review the institution's experience in treating malignant peripheral
nerve sheath tumors (MPNSTs). A secondary aim was to compare outcomes between …

Mechanisms underlying synergy between DNA topoisomerase I-targeted drugs and mTOR kinase inhibitors in NF1-associated malignant peripheral nerve sheath …

DH Ki, F Oppel, AD Durbin, AT Look - Oncogene, 2019 - nature.com
Malignant peripheral nerve sheath tumors (MPNSTs) are soft-tissue sarcomas that
frequently arise in patients with neurofibromatosis type 1 (NF1). Most of these tumors are …

Prognostic significance of mast cell and microvascular densities in malignant peripheral nerve sheath tumor with and without neurofibromatosis type 1

RAT Vasconcelos, P Guimarães Coscarelli… - Cancer …, 2019 - Wiley Online Library
Malignant peripheral nerve sheath tumors (MPNSTs) are rare and aggressive soft tissue
sarcomas with a significant susceptibility to metastasize early in their course. Pathogenesis …

NF1 and neurofibromin: emerging players in the genetic landscape of desmoplastic melanoma

M Mahalingam - Advances in Anatomic Pathology, 2017 - journals.lww.com
Abstract Neurofibromatosis type I (NF1), a monogenic disorder with an autosomal dominant
mode of inheritance, is caused by alterations in the NF1 gene which codes for the protein …

Somatic Mutations of lats2 Cause Peripheral Nerve Sheath Tumors in Zebrafish

ZJ Brandt, PN North, BA Link - Cells, 2019 - mdpi.com
The cellular signaling pathways underlying peripheral nerve sheath tumor (PNST) formation
are poorly understood. Hippo signaling has been recently implicated in the biology of …

Schwann cell-specific PTEN and EGFR dysfunctions affect neuromuscular junction development by impairing Agrin signaling and autophagy

SJ Zhang, XX Li, Y Yu, AP Chiu, LH Lo, JC To… - Biochemical and …, 2019 - Elsevier
The neuromuscular junction (NMJ) is formed by motor nerve terminals, post-junctional
muscle membranes, and terminal Schwann cells (SCs). The formation of NMJ requires …