Massive Plexiform Neurofibroma of the Neck and Larynx.
Ontology highlight
ABSTRACT:
SUBMITTER: Mobashir MK
PROVIDER: S-EPMC4593905 | biostudies-other | 2015 Oct
REPOSITORIES: biostudies-other
Similar Datasets
Project description:Backgroundperipheral nerve sheath tumors comprise a broad spectrum of neoplasms. Vestibular schwannomas and plexiform neurofibromas are symptomatic albeit benign, but a subset of the latter pre-malignant lesions will transform to malignant peripheral nerve sheath tumors (MPNST). Surgery and radiotherapy are the primary strategies to treat these tumors. Intrinsic resistance to drug therapy characterizes all three tumor subtypes. The breast cancer resistance protein BCRP is a transmembrane efflux transporter considered to play a key role in various biological barriers such as the blood brain barrier. At the same time it is associated with drug resistance in various tumors. Its potential role in drug resistant tumors of the peripheral nervous system is largely unknown.Objectiveto assess if BCRP is expressed in vestibular schwannomas, plexiform neurofibromas and MPNST.Material and methodsimmunohistochemical staining for BCRP was performed on a tissue microarray composed out of 22 vestibular schwannomas, 10 plexiform neurofibromas and 18 MPNSTs.Resultssixteen out of twenty-two vestibular schwannomas (73%), nine out of ten plexiform neurofibromas (90%) and six out of eighteen MPNST (33%) expressed BCRP in the vasculature. Tumor cells were negative.ConclusionBCRP is present in the vasculature of vestibular schwannomas, plexiform neurofibromas and MPSNT. Therefore, it may reduce the drug exposure of underlying tumor tissues and potentially cause failure of drug therapy.
| S-EPMC5687642 | biostudies-literature
Project description:IntroductionPlexiform cervical neurofibromas are benign neoplasm, extremely rare, difficult to diagnose and to manage. Only some cases have been reported in the literature.Case presentationWe report the case of a 60-year-old man admitted for a lateral neck mass, for which the surgical indication was the increase in volume of this mass, as well as the aesthetical impairment, the surgical exploration found the tumor attached to the cervical plexus. The excision of the mass was performed without damaging nerve. The pathological study was in favor of a plexiform neurofibroma.DiscussionEven though Plexiform cervical neurofibroma are extremely rare, and their diagnosis are not often primary evoked in front of any growing mass of this region, the surgeon must keep in mind the existence of these neoplasms as a differential diagnosis of a neck tumor.ConclusionSurgery remains the gold standard in the treatment of these locally invasive tumors. It is essential that the surgeon keep in mind the possibility of these tumors as a differential diagnosis of a neck tumor.
| S-EPMC7988485 | biostudies-literature
Project description:Background:Intraparotid facial nerve neurofibromas are benign neoplasms, extremely rare, difficult to diagnose and to manage. Only three pediatric cases have been reported in the literature. Case presentation:We report the 4th case of a 7-year-old child admitted for a parotid mass without facial palsy, for whom the surgical indication was the increase in volume of this mass, as well as the aesthetical impairment, the surgical exploration found the tumor attached to the lower branch of the division of the facial nerve. The excision of the mass was performed with the sacrifice of the inferior branch of the facial nerve, the trunk and the upper branch of the facial nerve was preserved, the pathological study was in favor of a plexiform neurofibroma.The patient has presented postoperatively a grade 5 facial palsy in the inferior territory of the facial nerve with a slight recovery 1 year after surgery. Conclusion:Even though plexiform neurofibromas in the parotid gland are extremely rare, and their diagnosis are not often primary evoked in front of any growing mass of this region, the surgeon must keep in mind the existence of these neoplasms as a differential diagnosis of a parotid tumor.
| S-EPMC7229263 | biostudies-literature
Project description:UnlabelledA 15 year old boy presented with swelling in the submandibular region. X ray of the part showed faint radio opaque shadow. A provisional diagnosis of sialadenitis with sialiolithiasis was made. Excised mass was reported histopathologically as plexiform neurofibroma of submandibular salivary gland. Plexiform neurofibroma of the salivary gland is a rare benign tumour, often present in the parotid gland. It is very rare in submandibular salivary gland. It is a slow growing, locally infiltrating tumour.Electronic supplementary materialThe online version of this article (doi:10.1007/s12262-010-0174-5) contains supplementary material, which is available to authorized users.
| S-EPMC3087058 | biostudies-literature
Project description:MicroRNAs (miRs) are small non-coding RNAs that can have large impacts on oncogenic pathways. Possible functions of dysregulated miRs have not been studied in neurofibromatosis type 1 (NF1) plexiform neurofibromas (PNFs). In PNFs, Schwann cells (SCs) have biallelic NF1 mutations necessary for tumorigenesis. We analyzed a miR microarray comparing with normal and PNF SCs and identified differences in miR expression, and we validated in mouse PNFs versus normal mouse SCs by qRT-PCR. Among these, miR-155 was a top overexpressed miR, and its expression was regulated by RAS/MAPK signaling. Overexpression of miR-155 increased mature Nf1-/- mouse SC proliferation. In SC precursors, which model tumor-initiating cells, pharmacological and genetic inhibition of miR-155 decreased PNF-derived sphere numbers in vitro, and we identified Maf as a miR-155 target. In vivo, global deletion of miR-155 significantly decreased tumor number and volume, increasing mouse survival. Fluorescent nanoparticles entered PNFs, suggesting that an anti-miR might have therapeutic potential. However, treatment of established PNFs using anti-miR-155 peptide nucleic acid-loaded nanoparticles marginally decreased tumor numbers and did not reduce tumor growth. These results suggest that miR-155 plays a functional role in PNF growth and/or SC proliferation, and that targeting neurofibroma miRs is feasible, and might provide novel therapeutic opportunities.
| S-EPMC7867646 | biostudies-literature
Project description:To define alterations early in tumor formation, we studied nerve tumors in neurofibromatosis 1 (NF1), a tumor predisposition syndrome. Affected individuals develop neurofibromas, benign tumors driven by NF1 loss in Schwann cells (SCs). By comparing normal nerve cells to plexiform neurofibroma (PN) cells using single-cell and bulk RNA sequencing, we identified changes in 5 SC populations, including a de novo SC progenitor-like (SCP-like) population. Long after Nf1 loss, SC populations developed PN-specific expression of Dcn, Postn, and Cd74, with sustained expression of the injury response gene Postn and showed dramatic expansion of immune and stromal cell populations; in corresponding human PNs, the immune and stromal cells comprised 90% of cells. Comparisons between injury-related and tumor monocytes/macrophages support early monocyte recruitment and aberrant macrophage differentiation. Cross-species analysis verified each SC population and unique conserved patterns of predicted cell-cell communication in each SC population. This analysis identified PROS1-AXL, FGF-FGFR, and MIF-CD74 and its effector pathway NF-κB as deregulated in NF1 SC populations, including SCP-like cells predicted to influence other types of SCs, stromal cells, and/or immune cells in mouse and human. These findings highlight remarkable changes in multiple types of SCs and identify therapeutic targets for PN.
| S-EPMC9675562 | biostudies-literature
Project description:The MEK inhibitor selumetinib induces objective responses and provides clinical benefit in children with neurofibromatosis type 1 (NF1) and inoperable plexiform neurofibromas (PNs). To evaluate whether similar outcomes were possible in adult patients, in whom PN growth is generally slower than in pediatric patients, an open-label phase 2 study of selumetinib in adults with NF1 PNs was conducted. Correlative analysis included extraction of RNA followed by sequencing. Samples include paired specimens collected before and on treatment.
2024-10-07 | GSE277520 | GEO
Project description:IntroductionPlexiform neurofibroma with neurofibromatosis type 1 (NF1) or Von Recklinghausen's disease is a rare entity and occurs in approximately 5-15% patients. These are slow growing, painless and locally infiltrating tumors. The pattern of inheritance is autosomal dominant and its penetrance is almost complete by 5 years of age.Presentation of caseWe hereby report a case of 13 years old boy visited presenting with swelling of right eyelid and forehead. After surgical removal, the tissue was sent for histopathological evaluation. Microscopy revealed an unencapsulated tumor mass comprising of well organized mixture of multiple nerve bundles with interlacing neural tissue in background of spindle shaped cells along with myxoid areas and numerous blood vessels.DiscussionThe NF1 gene responsible for the disease is located on chromosome 17 at locus 17q11.2 that codes for the protein neurofibromin. The frequency of neomutations is particularly high and almost half of the cases are sporadic. NF1 is characterized by a wide variability of clinical expressions, even within a given family. Majority of patients can be diagnosed only after thorough physical examination.ConclusionThe wide variation of the clinical expression, the tumor risk and the totally unpredictable evolution of the disease impose regular monitoring of NF1 patients. This surveillance is mainly clinical and has to be adapted to the patient's age in order to assure early management of complications.
| S-EPMC7473834 | biostudies-literature
Project description:Neurofibromatosis type I (NF1) is an autosomal dominant genetic condition characterized by peripheral nervous system tumors (PNSTs), including plexiform neurofibromas (pNFs) that cause nerve dysfunction, deformity, pain damage to adjacent structures, and can undergo malignant transformation. There are no effective therapies to prevent or treat pNFs. Drug discovery efforts are slowed by the 'benign' nature of the Schwann cells that are the progenitor cells of pNF. In this work we characterize a set of pNF-derived cell lines at the genomic level (via SNP Arrays, RNAseq, and Whole Exome- Sequencing), and carry out dose response-based quantitative high-throughput screening (qHTS) with a collection of 1,912 oncology-focused compounds in a 1536-well microplate cell proliferation assays. Through the characterization and screening of NF1-/-, NF1+/+ and NF1+/- Schwann cell lines, this resource introduces novel therapeutic avenues for the development for NF1 associated pNF as well as all solid tumors with NF1 somatic mutations. The integrated data sets are openly available for further analysis at http://www.synapse.org/pnfCellCulture.
| S-EPMC5996849 | biostudies-literature
Project description:Neurofibromatosis type 1 is a tumor-predisposing genetic disorder. Plexiform neurofibromas are common NF1 tumors carrying a risk of malignant transformation, which is typically fatal. Little is known about mechanisms mediating initiation and identity of specific cell type that gives rise to neurofibromas. Using cell-lineage tracing, we identify a population of GAP43(+) PLP(+) precursors in embryonic nerve roots as the cells of origin for these tumors and report a non-germline neurofibroma model for preclinical drug screening to identify effective therapies. The identity of the tumor cell of origin and facility for isolation and expansion provides fertile ground for continued analysis to define factors critical for neurofibromagenesis. It also provides unique approaches to develop therapies to prevent neurofibroma formation in NF1 patients.
| S-EPMC4254535 | biostudies-literature