Neurofibroma

Neurofibromatosis 1 (NF1) is a multisymptomatic disorder with highly variable presentations, which include short stature, susceptibility to formation of the characteristic benign tumors known as neurofibromas, intense freckling and skin discoloration, and cognitive deficits, which characterize most children with the condition. Attention deficits and Autism Spectrum manifestations augment the compromised learning presented by most patients, leading to behavioral problems and school failure, while fragmented sleep contributes to chronic fatigue and poor quality of life...

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BACKGROUND: Neurofibromatosis type I (NF1) is a genetic disorder characterized by the tumor's development in nerve tissue. Complications of NF1 can include pigmented lesions, skin neurofibromas, and heart problems such as cardiomyopathy. In this study, we performed whole-exome sequencing (WES) on an Iranian patient with NF1 to identify the genetic cause of the disease. METHODS: Following clinical assessment, WES was used to identify genetic variants in a family with a son suffering from NF1...

INTRODUCTION: Peripheral nerve tumors are a group of rare soft tissue tumors of neuro-ectodermal origin. Although the majority of them are benign in nature, up to 10% can be malignant. The symptoms depend on the site, size, and structures compressed by the tumor. AIM: To highlight the heterogeneity of signs and symptoms and their presentations, which has often made it difficult for the attending physician to accurately diagnose and direct the patient toward appropriate treatment...

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A 24-year-old man with von Recklinghausen's disease presented with complaints of difficulty in swallowing for 6 months and change of voice for 3 months. He also had recent-onset difficulty in breathing. Telelaryngoscopy and subsequent contrast-enhanced computed tomography scan revealed a well-defined, smooth submucosal mass in the oropharynx (attached to the posterior pharyngeal wall, superior to the level of left aryepiglottic fold), obscuring the ipsilateral pyriform fossa, and nearly blocking the pharyngeal lumen...

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Malignant peripheral nerve sheath tumors (MPNST) are rare and aggressive soft tissue sarcomas. MPNST diagnosis is made based on biopsy, but distinct features are present on ultrasound, computed tomography (CT), and magnetic resonance imaging (MRI). We present a case of a 24-year-old man presenting with abdominal pain and lower-extremity weakness found to have a large MPNST originating from the left femoral nerve and describe findings on imaging and their histopathologic correlation.

INTRODUCTION: Peripheral nerve sheath tumors are the most common tumor of the peripheral nerves. In general, surgery has a favorable outcome and is the treatment of choice. However, postoperative neurologic deficits are not uncommon, and predictors of outcome are poorly defined. OBJECTIVE: To evaluate clinical outcomes after surgical treatment of benign peripheral nerve sheath tumors and identify outcome predictors that may affect preoperative decision making and improve surgical outcomes...

In Neurofibromatosis type 1 (NF1), peripheral nerve sheaths tumors are common, with cutaneous neurofibromas resulting in significant aesthetic, painful and functional problems requiring surgical removal. To date, determination of adequate surgical resection margins-complete tumor removal while attempting to preserve viable tissue-remains largely subjective. Thus, residual tumor extension beyond surgical margins or recurrence of the disease may frequently be observed. Here, we introduce Shifted-Excitation Raman Spectroscopy in combination with deep neural networks for the future perspective of objective, real-time diagnosis, and guided surgical ablation...

BACKGROUND: Neurofibromatosis type 1 (NF1) is an autosomal dominant inherited tumor predisposition disease with a highly variable phenotype. The influence of the characteristic NF1 tumors (neurofibromas) on dentition has not yet been examined in detail. The aim of the study was to assess the dentition of NF1 children and adolescents, considering the symmetry of tooth development. MATERIAL AND METHODS: The panoramic radiographs of 59 patients with a confirmed NF1 diagnosis were compared with 59 age-and-sex-matched controls...

The occurrence of cutaneous metastases in prostate cancer is exceedingly rare. Many benign lesions and nonprostatic cancers can express the prostate-specific membrane antigen (PSMA). They can potentially mimic metastasis of prostate cancer and lead to misinterpretation of PSMA PET/CT findings. Additionally, it has significant management and prognostic implications. We present a rare case of an 88-year-old man with metastatic castration-resistant prostate cancer who showed a PSMA-expressing subcutaneous nodule in the scalp on 18F-PSMA-1007 PET/CT, raising the suspicion of cutaneous metastasis...

Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic condition with complete age-dependent penetrance, variable expressivity and a global prevalence of ∼1/3,000. It is characteriszed by numerous café-au-lait macules, skin freckling in the inguinal or axillary regions, Lisch nodules of the iris, optic gliomas, neurofibromas, and tumour predisposition. The diagnostic testing strategy for NF1 includes testing for DNA single nucleotide variants (SNVs), copy number variants (CNVs) as well as RNA analysis for deep intronic and splice variants, which can cumulatively identify the causative variant in 95% of patients...

Isolated intraparotid neurofibromas are exceptionally rare and often associated with neurofibromatosis type 1 (NF1). Diagnosing these tumors proves challenging because of the clinical resemblance to primary salivary gland masses. This case report details an 18-year-old with a painful, enlarging parotid mass, diagnosed through fine needle aspiration biopsy (FNAB) revealing myxoid stroma and spindle cells. Magnetic resonance imaging confirmed a plexiform neurofibroma involving the parotid gland and facial nerve...

Selumetinib is clinically used for pediatric patients with neurofibromatosis type 1 and symptomatic, inoperable plexiform neurofibromas. Until recently, selumetinib had to be taken twice daily, after 2 hours of fasting and followed by 1 hour of fasting, which could be inconvenient. This population analysis evaluated the effect of low- and high-fat meals on the pharmacokinetic (PK) parameters of selumetinib and its active metabolite N-desmethyl selumetinib. The dataset comprised 511 subjects from 15 clinical trials who received ≥1 dose of selumetinib and provided ≥1 measurable postdose concentration of selumetinib and N-desmethyl selumetinib...

Neurofibromatosis Type 1 (NF1) is a common cancer predisposition syndrome, caused by heterozygous loss of function mutations in the tumor suppressor gene NF1 . Individuals with NF1 develop benign tumors of the peripheral nervous system (neurofibromas), originating from the Schwann cell linage after somatic loss of the wild type NF1 allele, some of which progress further to malignant peripheral nerve sheath tumors (MPNST). There is only one FDA approved targeted therapy for symptomatic plexiform neurofibromas and none approved for MPNST...

No abstract text is available yet for this article.

BACKGROUND: Malignant triton tumors (MTT) are subtype of malignant peripheral nerve sheath tumor (MPNST) which develop from Schwan cells of peripheral nerves or within neurofibromas, and shows rhabdomyoblastic differentiation. It is a rare soft tissue tumor with poor prognosis. OBJECTIVE: We report a case of Malignant Triton Tumor (MTT) arising in the right shoulder in a 46 year old male patient presented to our Musculoskeletal Oncology Clinic at Royal Rehabilitation center at King Hussein Medical Center during June 2018...

Plexiform neurofibroma is a benign peripheral nerve sheath tumor known to be pathognomonic for neurofibromatosis type 1. However, solitary plexiform neurofibroma in the oral cavity is extremely rare. Herein, we presented a 73-year-old Saudi male with solitary plexiform neurofibroma located on the maxillary alveolar ridge, which was excised successfully using a 940 nm diode laser. Microscopic examination revealed a multinodular arrangement of benign spindle cells in a haphazard pattern. Immunohistochemical analysis showed positive staining for S100 and CD34 in the tumor cells...

A 4-month-old male presented for a large, hypertrichotic brown patch on the upper back with several scattered 0.5-1.5 cm, round to oval, brown macules and patches on the trunk and extremities. The lesion was initially diagnosed as a giant congenital melanocytic nevus based on clinical exam and histopathology with immunohistochemical stains. The patient was later diagnosed with neurofibromatosis type 1, and the lesion on the back developed a "bag of worms" texture consistent with a plexiform neurofibroma and found to harbor a pathogenic variant in the NF1 gene...