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British Journal of Anaesthesia Apr 2001The neurofibromatoses are autosomal dominant diseases that have widespread effects on ectodermal and mesodermal tissue. The commonest member of the group is... (Review)
Review
The neurofibromatoses are autosomal dominant diseases that have widespread effects on ectodermal and mesodermal tissue. The commonest member of the group is neurofibromatosis type 1 (NF1) which varies in severity but which can affect all physiological systems. Neurofibromas are the characteristic lesions of the condition and not only occur in the neuraxis but may also be found in the oropharnyx and larynx; these may produce difficulties with laryngoscopy and tracheal intubation. Pulmonary pathology includes pulmonary fibrosis and cystic lung disease. The cardiovascular manifestations of NF1 include hypertension, which may be associated with phaeochromocytoma or renal artery stenosis. Neurofibromas may also affect the gastrointestinal tract and carcinoid tumours may be found in the duodenum. This review documents the aetiology and clinical manifestations of the neurofibromatoses and discusses their relevance to the anaesthetist.
Topics: Anesthesia; Humans; Neurofibromatoses; Neurofibromatosis 1; Neurofibromatosis 2
PubMed: 11573632
DOI: 10.1093/bja/86.4.555 -
Stem Cell Research Dec 2020Plexiform neurofibromas (pNFs) are benign tumors of the peripheral nervous system (PNS) that can progress towards a deadly soft tissue sarcoma termed malignant... (Review)
Review
Plexiform neurofibromas (pNFs) are benign tumors of the peripheral nervous system (PNS) that can progress towards a deadly soft tissue sarcoma termed malignant peripheral nerve sheath tumor (MPNST). pNFs appear during development in the context of the genetic disease Neurofibromatosis type 1 (NF1) due to the complete loss of the NF1 tumor suppressor gene in a cell of the neural crest (NC) - Schwann cell (SC) axis of differentiation. NF1(-/-) cells from pNFs can be reprogrammed into induced pluripotent stem cells (iPSCs) that exhibit an increased proliferation rate and maintain full iPSC properties. Efficient protocols for iPSC differentiation towards NC and SC exist and thus NC cells can be efficiently obtained from NF1(-/-) iPSCs and further differentiated towards SCs. In this review, we will focus on the iPSC modeling of pNFs, including the reprogramming of primary pNF-derived cells, the properties of pNF-derived iPSCs, the capacity to differentiate towards the NC-SC lineage, and how well iPSC-derived NF1(-/-) SC spheroids recapitulate pNF-derived primary SCs. The potential uses of NF1(-/-) iPSCs in pNF modeling and a future outlook are discussed.
Topics: Genes, Tumor Suppressor; Humans; Neurofibroma, Plexiform; Neurofibromatosis 1; Schwann Cells
PubMed: 33160273
DOI: 10.1016/j.scr.2020.102068 -
Journal of Cancer Research and... Aug 2023The present experimental models of cystic diseases are not adequate and require further investigation.
CONTEXT
The present experimental models of cystic diseases are not adequate and require further investigation.
AIM
In this study, a new way of producing a tissue-mimicking model of cysts and cystic neoplasms was evaluated.
SETTINGS AND DESIGN
To simulate cysts and cystic neoplasms, ex vivo rabbit normal bladders and VX2-implanted tumor bladders were produced, fixed, and embedded in agarose gel.
METHODS AND MATERIALS
The samples were classified into four groups based on tumor features and the maximal transverse diameter of the rabbit bladder, which were assessed using computer tomography (CT) imaging and statistically analyzed.
STATISTICAL ANALYSIS USED
Statistical analysis was performed using Statistical Package for the Social Sciences (SPSS) software. The t-test was used for analyzing enumeration data.
RESULTS
Twenty-one rabbit bladders (21/24) were successfully removed and prepped for this experiment, comprising eleven normal bladders (11/24) and ten implanted with VX2 tumors (10/24). The gelling ingredient used to form the visualization and fixation matrix was agarose at a concentration of 4 g/200 mL. The temperature of the agarose solution was kept constant at 40-45°C, which is the optimal temperature range for ex vivo normal bladder and implanted VX2 tumor bladder insertion. The average time required to embed and fix the bladders in agarose gel was 45.0 ± 5.2 minutes per instance. The gel-fixing matrix's strength and light transmittance were enough for building the models.
CONCLUSION
We created an experimental tissue-mimicking model of cysts and cystic neoplasms with stable physicochemical features, a safe manufacturing method, and high repeatability. These models may be used to assist with cystic lesion diagnosis and treatment techniques.
Topics: Animals; Rabbits; Sepharose; Cysts; Neoplasms, Cystic, Mucinous, and Serous; Urinary Bladder Neoplasms; Software
PubMed: 37675727
DOI: 10.4103/jcrt.jcrt_2060_22 -
Medicina Oral, Patologia Oral Y Cirugia... May 2020Dermoid and epidermoid cysts are slow-growing, benign developmental cysts that arise from ectodermal tissue and can occur anywhere in the body. Less than 7% of these... (Review)
Review
BACKGROUND
Dermoid and epidermoid cysts are slow-growing, benign developmental cysts that arise from ectodermal tissue and can occur anywhere in the body. Less than 7% of these cysts involve the head and neck region, with only 1.6% of cases presenting in the oral cavity. To evaluate the clinical and histopathological features of dermoid (DCs) and epidermoid (ECs) cysts stored in the archives of a referred Oral Pathology Service over a 48-year-period, and to review current concepts about these cysts.
MATERIAL AND METHODS
All DCs and ECs were reviewed, and clinical data were obtained from the patient records. Fourteen cases of DCs and thirteen cases of ECs were re-evaluated microscopically by 2 oral pathologists.
RESULTS
Among 15.387 cases, 14 (0.09%) had a histopathological diagnosis of DCs and 13 (0.08%) of ECs. For DCs, ten (71.4%) patients were women, with the mean age of 37.2 years. All DCs were lined by a stratified squamous epithelium (100%), with gut and respiratory epithelium observed in 1 (7.1%) and 2 (14.3%) cases, respectively. Chronic inflammatory cells, melanin, multinucleated giant cell reaction, and Pacini bodies were also observed. For ECs, eight (61.5%) cases were in women, and the mean age was 38.2 years. All ECs were lined by a stratified squamous epithelium (100%). Chronic inflammatory cells, melanin pigmentation, and adipose tissue were observed in the fibrous capsule.
CONCLUSION
Our results suggest that stratified squamous epithelium is the predominant epithelial lining of these cystic lesions. Also, we may find some unusual findings in DCs, such as Pacini bodies.
Topics: Adult; Dermoid Cyst; Epidermal Cyst; Epithelium; Female; Humans; Mouth; Retrospective Studies
PubMed: 32134895
DOI: 10.4317/medoral.23388 -
Experimental Neurology Jan 2018The future of precision medicine is heavily reliant on the use of human tissues to identify the key determinants that account for differences between individuals with... (Review)
Review
The future of precision medicine is heavily reliant on the use of human tissues to identify the key determinants that account for differences between individuals with the same disorder. This need is exemplified by the neurofibromatosis type 1 (NF1) neurogenetic condition. As such, individuals with NF1 are born with a germline mutation in the NF1 gene, but may develop numerous distinct neurological problems, ranging from autism and attention deficit to brain and peripheral nerve sheath tumors. Coupled with accurate preclinical mouse models, the availability of NF1 patient-derived induced pluripotent stem cells (iPSCs) provides new opportunities to define the critical factors that underlie NF1-associated nervous system disease pathogenesis and progression. In this review, we discuss the generation and potential applications of iPSC technology to the study of NF1.
Topics: Animals; Biological Variation, Individual; Brain; Brain Neoplasms; Cellular Reprogramming Techniques; Disease Models, Animal; Drug Screening Assays, Antitumor; Forecasting; Genes, Neurofibromatosis 1; Germ-Line Mutation; Humans; Induced Pluripotent Stem Cells; Mice; Mice, Knockout; Models, Neurological; Nerve Regeneration; Nerve Sheath Neoplasms; Neurodevelopmental Disorders; Neurofibroma; Neurofibromatosis 1; Neurofibromin 1; Optic Nerve Glioma; Organoids; Precision Medicine
PubMed: 28392281
DOI: 10.1016/j.expneurol.2017.04.001 -
Neurology Jul 2018To present the current terminology and natural history of neurofibromatosis 1 (NF1) cutaneous neurofibromas (cNF).
OBJECTIVE
To present the current terminology and natural history of neurofibromatosis 1 (NF1) cutaneous neurofibromas (cNF).
METHODS
NF1 experts from various research and clinical backgrounds reviewed the terms currently in use for cNF as well as the clinical, histologic, and radiographic features of these tumors using published and unpublished data.
RESULTS
Neurofibromas develop within nerves, soft tissue, and skin. The primary distinction between cNF and other neurofibromas is that cNF are limited to the skin whereas other neurofibromas may involve the skin, but are not limited to the skin. There are important cellular, molecular, histologic, and clinical features of cNF. Each of these factors is discussed in consideration of a clinicopathologic framework for cNF.
CONCLUSION
The development of effective therapies for cNF requires formulation of diagnostic criteria that encompass the clinical and histologic features of these tumors. However, there are several areas of overlap between cNF and other neurofibromas that make distinctions between cutaneous and other neurofibromas more difficult, requiring careful deliberation with input across the multiple disciplines that encounter these tumors and ultimately, prospective validation. The ultimate goal of this work is to facilitate accurate diagnosis and meaningful therapeutics for cNF.
Topics: Humans; Neurofibroma; Neurofibromatosis 1; Quality of Life; Skin Neoplasms
PubMed: 29987130
DOI: 10.1212/WNL.0000000000005792 -
The Pan African Medical Journal 2022
Topics: Humans; Female; Bartholin's Glands; Cysts
PubMed: 36879636
DOI: 10.11604/pamj.2022.43.174.38017 -
The Neuroradiology Journal Dec 2021The purpose of this study was to evaluate computed tomography and magnetic resonance imaging of benign trichilemmal cysts and proliferating trichilemmal tumours.
PURPOSE
The purpose of this study was to evaluate computed tomography and magnetic resonance imaging of benign trichilemmal cysts and proliferating trichilemmal tumours.
METHODS
Nineteen histologically confirmed cutaneous lesions with trichilemmal keratinisation (12 trichilemmal cysts and seven proliferating trichilemmal tumours) were enrolled. Among them, 10 lesions (six trichilemmal cysts and four proliferating trichilemmal tumours) were examined by computed tomography, while 13 lesions (eight trichilemmal cysts and five proliferating trichilemmal tumours) were examined by magnetic resonance imaging. Computed tomography and magnetic resonance imaging characteristics were retrospectively reviewed.
RESULTS
Sixteen lesions (84%, 10 trichilemmal cysts and six proliferating trichilemmal tumours) occurred on the scalp. Lobulated margins were observed in five lesions (26%, three trichilemmal cysts and two proliferating trichilemmal tumours). With respect to computed tomography attenuation, calcification (>200 Hounsfield units) was observed in seven lesions (70%, five trichilemmal cysts and two proliferating trichilemmal tumours), hyperdense areas (≥80 and ≤200 Hounsfield units) in six (60%, three trichilemmal cysts and three proliferating trichilemmal tumours), and soft tissue density areas (<80 Hounsfield units) in nine (90%, five trichilemmal cysts and four proliferating trichilemmal tumours). On T1-weighted images, intratumoral hyperintensity was only observed in eight trichilemmal cysts but no proliferating trichilemmal tumours (100% vs. 0%, <0.01). On T2-weighted images, hypointense rim and intratumoral hypointensity was observed in all 13 lesions (100%, eight trichilemmal cysts and five proliferating trichilemmal tumours), and linear or reticular hypointensity was observed in 10 (77%, six trichilemmal cysts and four proliferating trichilemmal tumours).
CONCLUSION
Trichilemmal cysts and proliferating trichilemmal tumours predominantly occurred on the scalp with calcification, and usually exhibited linear or reticular T2 hypointensity. Intratumoral T1 hyperintensity may be a useful imaging feature for differentiating trichilemmal cysts from proliferating trichilemmal tumours.
Topics: Epidermal Cyst; Humans; Magnetic Resonance Imaging; Retrospective Studies; Scalp; Skin Neoplasms
PubMed: 34060944
DOI: 10.1177/19714009211017789 -
Journal of Vascular Surgery Jul 2014Cystic adventitial disease (CAD) is a rare condition that affects arteries and veins. The etiology remains controversial and several treatment methods have been... (Review)
Review
BACKGROUND
Cystic adventitial disease (CAD) is a rare condition that affects arteries and veins. The etiology remains controversial and several treatment methods have been described. By understanding the pathogenesis of CAD, we can improve the surgical treatment, reduce recurrence rates, and improve patient outcomes. The objective of this study was to perform a systematic review of the world's literature.
METHODS
We searched across multiple scientific databases and cross-referenced each article to collect the world's literature on CAD. Studies included were those that reported a case or case series of CAD. Each article was analyzed for site of CAD, patient demographic data, type of imaging, surgical management, presence of a joint connection on imaging or at surgery, and recurrences. A regression analysis was used to identify risk factors for cyst recurrence.
RESULTS
We identified 503 reports (724 patients), which were included in our analysis. The most common vessel affected was the popliteal artery with 587 cysts. The mean age was 46 (range, 5-80) years with a male-to-female ratio of approximately 4:1. Magnetic resonance imaging (MRI) or angiography was performed for 182 cysts and conventional angiography was the most advanced imaging modality used in 355 patients who did not receive a MRI or computed tomography scan as part of their assessment. Multiple types of surgical interventions were reported with the most common being cyst resection and saphenous vein graft reconstruction (204 cases). There were 122 joint connections (17%) identified. Sixty-five patients (9%) developed at least one cyst recurrence or persistence. Percutaneous surgery (aspiration or angioplasty) was found to be a risk factor for cyst recurrence (odds ratio, 13.7; 95% confidence interval, 6.5-29.0; P < .0001). Because of the rarity of this condition, publications were limited to level IV evidence consisting of case series and case reports. Several reports had short or no follow-up and few patients had postoperative MRI. These limitations likely underestimate the true rate of cyst recurrence or persistence.
CONCLUSIONS
This article provides a comprehensive review of the world's literature on CAD, which can serve as a baseline for future studies. When analyzed in the context of the literature, this systematic review supplies further evidence that CAD adheres to the articular (synovial) theory. We believe that knowledge of these joint connections can simplify treatment, reduce recurrence rates, and improve patient outcomes.
Topics: Adolescent; Adult; Adventitia; Aged; Aged, 80 and over; Angiography; Child; Child, Preschool; Cysts; Female; Humans; Magnetic Resonance Imaging; Male; Middle Aged; Peripheral Vascular Diseases; Popliteal Artery; Recurrence; Young Adult
PubMed: 24970659
DOI: 10.1016/j.jvs.2014.04.014 -
BMJ Case Reports Apr 2021Neurofibromas are defined as benign tumours arising from peripheral nerve sheaths. Few intraoral palatal cases have been reported. Neurofibromas can occur as part of...
Neurofibromas are defined as benign tumours arising from peripheral nerve sheaths. Few intraoral palatal cases have been reported. Neurofibromas can occur as part of neurofibromatosis, type 1 (NF1) or type 2 (NF2). A 41-year-old patient presented with a slowly enlarging soft tissue mass on the hard palate. An incisional biopsy was performed, which confirmed the diagnosis of a neurofibroma associated with NF1. It should be considered that there is a chance of malignant transformation. Here, we discuss the clinical features, types, diagnosis, histopathology and treatment options.
Topics: Adult; Humans; Neurofibroma; Neurofibromatosis 1; Palate, Hard
PubMed: 33827870
DOI: 10.1136/bcr-2020-239887