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International Journal of Surgery Case... Mar 2024Plexiform neurofibromas (PNs) are characterized by their diffuse masses with tortuous expansion along nerve branches. While surgery is the primary management for PNs,...
INTRODUCTION
Plexiform neurofibromas (PNs) are characterized by their diffuse masses with tortuous expansion along nerve branches. While surgery is the primary management for PNs, the optimal surgical approach remains unestablished.
CASE PRESENTATION
A 35-year-old lady presented with a large hanging mass covering the medial aspect of the thigh and the leg. It caused discomfort, disfigurement, and occasional pain. The patient was planned for the debulking surgery under spinal anesthesia. Incisions were given on the normal-looking skin adjacent to the mass, through the skin layers, subcutaneous tissue and deep fascia until the muscles were seen. The mass was then approached and elevated in the subfascial plane (relatively avascular). Large, dilated, dense tortuous vessels could be seen in the suprafascial and subcutaneous planes. Maximum area that could be removed was marked and excised. The normal contour of the left lower extremity was restored close to achieving a thigh and a leg lift.
DISCUSSION
PNs pose surgical challenges due to their vascularity and difficult locations. The subfascial debulking approach presented in the case aims to reduce intraoperative hemorrhage by avoiding highly vascular areas and preventing entry into blood sinuses within the neurofibromatous tissue. This technique also minimizes the risk of inadvertent injury to nearby neurovascular structures.
CONCLUSION
The proposed subfascial approach, significantly reduces intraoperative hemorrhage during the debulking of a PN.
PubMed: 38350375
DOI: 10.1016/j.ijscr.2024.109373 -
Indian Dermatology Online Journal 2024
PubMed: 38283024
DOI: 10.4103/idoj.idoj_253_23 -
Journal of Medical Case Reports Jan 2024Neurofibromatosis type 1 is a neurocutaneous genetic disorder caused by mutations in the NF1 gene, resulting in the formation of benign tumors called neurofibromas. The...
BACKGROUND
Neurofibromatosis type 1 is a neurocutaneous genetic disorder caused by mutations in the NF1 gene, resulting in the formation of benign tumors called neurofibromas. The most common type of tumor seen in patients with neurofibromatosis type 1 is the slow-growing and benign neurofibroma, with a subtype called plexiform neurofibroma being particularly common and causing pain, functional impairment, and cosmetic disfigurement.
CASE PRESENTATION
We report the case of a 20-year-old North African female patient with a history of neurofibromatosis type 1 who presented with a growing mass in her right gluteal region, which was later diagnosed as a giant cutaneous neurofibroma. Imaging studies revealed infiltration in several regions, including the urinary bladder wall, resulting in significant bilateral hydronephrosis. The patient is currently being monitored, and no excisional procedures are planned.
CONCLUSIONS
Neurofibromatosis type 1 can cause a variety of clinical symptoms, including the development of large plexiform neurofibromas. It is important to closely monitor patients with neurofibromatosis type 1 for the early detection of neurofibromas. Early detection and prompt surgical intervention are essential for preventing complications.
Topics: Humans; Female; Young Adult; Adult; Neurofibroma, Plexiform; Neurofibromatosis 1; Urinary Bladder; Neurofibroma; Skin Neoplasms
PubMed: 38216958
DOI: 10.1186/s13256-023-04315-z -
Heliyon Jan 2024Plexiform neurofibromas (PNs) are peripheral nerve tumors that occur in 25-50 % of patients with neurofibromatosis type 1. PNs may have complex, diffused, and irregular...
Development of a semi-automatic segmentation technique based on mean magnetic resonance imaging intensity thresholding for volumetric quantification of plexiform neurofibromas.
RATIONALE AND OBJECTIVES
Plexiform neurofibromas (PNs) are peripheral nerve tumors that occur in 25-50 % of patients with neurofibromatosis type 1. PNs may have complex, diffused, and irregular shapes. The objective of this work was to develop a volumetric quantification method for PNs as clinical assessment is currently based on unidimensional measurement.
MATERIALS AND METHODS
A semi-automatic segmentation technique based on mean magnetic resonance imaging (MRI) intensity thresholding (SSTMean) was developed and compared to a similar and previously published technique based on minimum image intensity thresholding (SSTMini). The performance (volume and computation time) of the two techniques was compared to manual tracings of 15 tumors of different locations, shapes, and sizes. Performance was also assessed using different MRI sequences. Reproducibility was assessed by inter-observer analysis.
RESULTS
When compared to manual tracing, quantification performed with SSTMean was not significantly different (mean difference: 1.2 %), while volumes computed by SSTMini were significantly different (p < .0001, mean difference: 13.4 %). Volumes quantified by SSTMean were also significantly different than the ones assessed by SSTMini (p < .0001). Using SSTMean, volumes quantified with short TI inversion recovery, T1-, and T2-weighted imaging were not significantly different. Computation times used by SSTMean and SSTMini were significantly lower than for manual segmentation (p < .0001). The highest difference measured by two users was 8 cm.
CONCLUSION
Our method showed accuracy compared to a current gold standard (manual tracing) and reproducibility between users. The refined segmentation threshold and the possibility to define multiple regions-of-interest to initiate segmentation may have contributed to its performance. The versatility and speed of our method may prove useful to better monitor volumetric changes in lesions of patients enrolled in clinical trials to assessing response to therapy.
PubMed: 38173515
DOI: 10.1016/j.heliyon.2023.e23445 -
Clinical Trials (London, England) Feb 2024Individuals with neurofibromatosis 1 may experience changes in their appearance due to physical manifestations of the disorders and/or treatment sequelae. Appearance...
BACKGROUND/AIMS
Individuals with neurofibromatosis 1 may experience changes in their appearance due to physical manifestations of the disorders and/or treatment sequelae. Appearance concerns related to these physical changes can lead to psychological distress and poorer quality of life. While many neurofibromatosis 1 clinical trials focus on assessing changes in tumor volume, evaluating patients' perspectives on corresponding changes in symptoms such as physical appearance can be key secondary outcomes. We aimed to determine whether any existing patient-reported outcome measures are appropriate for evaluating changes in appearance concerns within neurofibromatosis 1 clinical trials.
METHODS
After updating our previously published systematic review process, we used it to identify and rate existing patient-reported outcome measures related to disfigurement and appearance. Using a systematic literature search and initial triage process, we focused on identifying patient-reported outcome measures that could be used to evaluate changes in appearance concerns in plexiform or cutaneous neurofibroma clinical trials in neurofibromatosis 1. Our revised Patient-Reported Outcome Rating and Acceptance Tool for Endpoints then was used to evaluate each published patient-reported outcome measures in five domains, including (1) respondent characteristics, (2) content validity, (3) scoring format and interpretability, (4) psychometric data, and (5) feasibility. The highest-rated patient-reported outcome measures were then re-reviewed in a side-by-side comparison to generate a final consensus recommendation.
RESULTS
Eleven measures assessing appearance concerns were reviewed and rated; no measures were explicitly designed to assess appearance concerns related to neurofibromatosis 1. The FACE-Q Craniofacial Module-Appearance Distress scale was the top-rated measure for potential use in neurofibromatosis 1 clinical trials. Strengths of the measure included that it was rigorously developed, included individuals with neurofibromatosis 1 in the validation sample, was applicable to children and adults, covered item topics deemed important by neurofibromatosis 1 patient representatives, exhibited good psychometric properties, and was feasible for use in neurofibromatosis 1 trials. Limitations included a lack of validation in older adults, no published information regarding sensitivity to change in clinical trials, and limited availability in languages other than English.
CONCLUSION
The Response Evaluation in Neurofibromatosis and Schwannomatosis patient-reported outcome working group currently recommends the FACE-Q Craniofacial Module Appearance Distress scale to evaluate patient-reported changes in appearance concerns in clinical trials for neurofibromatosis 1-related plexiform or cutaneous neurofibromas. Additional research is needed to validate this measure in people with neurofibromatosis 1, including older adults and those with tumors in various body locations, and explore the effects of nontumor manifestations on appearance concerns in people with neurofibromatosis 1 and schwannomatosis.
Topics: Child; Humans; Aged; Neurofibromatosis 1; Neurofibroma, Plexiform; Quality of Life; Neurofibromatoses; Neurilemmoma; Skin Neoplasms
PubMed: 38140900
DOI: 10.1177/17407745231205577 -
Cancers Dec 2023: Neurofibromatosis type 1 (NF1) is a genetic disorder characterized by heterozygous germline gene mutations that predispose patients to developing plexiform...
: Neurofibromatosis type 1 (NF1) is a genetic disorder characterized by heterozygous germline gene mutations that predispose patients to developing plexiform neurofibromas, which are benign but often disfiguring tumors of the peripheral nerve sheath induced by loss of heterozygosity at the locus. These can progress to malignant peripheral nerve sheath tumors (MPNSTs). There are no approved drug treatments for adults with NF1-related inoperable plexiform neurofibromas, and only one drug (selumetinib), which is an FDA-approved targeted therapy for the treatment of symptomatic pediatric plexiform neurofibromas, highlighting the need for additional drug screening and development. In high-throughput screening, the effectiveness of drugs against cell lines is often assessed by measuring in vitro potency (AC50) or the area under the curve (AUC). However, the variability of dose-response curves across drugs and cell lines and the frequency of partial effectiveness suggest that these measures alone fail to provide a full picture of overall efficacy. : Using concentration-response data, we combined response effectiveness (EFF) and potency (AC50) into (a) a score characterizing the effect of a compound on a single cell line, = log[EFF/AC50], and (b) a relative score, , characterizing the relative difference between a reference (e.g., non-tumor) and test (tumor) cell line. was applied to data from high-throughput screening (HTS) of a drug panel tested on tumor cells, using immortalized non-tumor cells as a reference. : We identified drugs with sensitivity, targeting expected pathways, such as MAPK-ERK and PI3K-AKT, as well as serotonin-related targets, among others. The technique used here, in tandem with a supplemental web tool, simplifies HTS analysis and may provide a springboard for further investigations into drug response in NF1-related cancers. The tool may also prove useful for drug development in a variety of other cancers.
PubMed: 38136356
DOI: 10.3390/cancers15245811 -
GMS Interdisciplinary Plastic and... 2023Neurofibromatosis type 1 (NF1) is an is an autosomal dominant heritable tumor predisposition syndrome.. Peripheral nerve sheath tumors (PNST) are a hallmark of NF1....
INTRODUCTION
Neurofibromatosis type 1 (NF1) is an is an autosomal dominant heritable tumor predisposition syndrome.. Peripheral nerve sheath tumors (PNST) are a hallmark of NF1. Plexiform neurofibromas (PNF) are neoplasms that are characteristic of NF1, often causing disfiguring effects (e.g., on the face), and are considered precancerous lesions. Previous studies have shown that facial PNF (FPNF) have an impact on the shape of facial bones. This study examines deviations of mandibular symmetry from cephalometric reference planes considering the topography of FPNF.
MATERIAL AND METHODS
The posterior-anterior (PA) cephalograms of 168 patients with NF1 were examined. We compared three groups: patients with FPNF (n=74), with disseminated cutaneous neurofibroma (DNF (n=94)), and control subjects without NF1 (n=23). The PNF group was subtyped with respect to facial PNST type and location. Typical mandibular cephalometric reference points were determined (condyle, antegonion, and menton).
RESULTS
The skeletal measurement points of the mandible in FPNF patients often differ significantly from those of the DNF group. It has been proven that typical asymmetries of the median-sagittal measurement points are indicators of PNF. Differences within the trigeminal tumor spread patterns are indicated in the measured values. A local tumor effect (PNF) on the relation of the measurement points to the reference planes is made plausible by the study results. The investigations prove that tumor type (FPNF) and the number of FPNF affected branches of the trigeminal nerve may correlate with significant deviations of mandible from symmetry on PA projections.
CONCLUSION
The presented study shows that characteristic patterns of mandibular deformity can be measured on standardized radiographs in NF1 patients with FPNF. Mandibular deformities imaged on standardized radiographs may be initial indicators of a previously unrecognized NF1. Tumor-associated alterations of the mandible should be considered in the classification systems of pathognomonic, diagnostically pioneering osseous findings in NF1. The radiological findings provide clues for planning mandibular osteotomies in NF1 patients, especially for assessing facial regions typically highly vascularized by tumor spread. Furthermore, the radiological findings are an indication of a tumor potentially invading and destroying adjacent masticatory and mimic muscle, findings that may have an influence on surgical measures (function, aesthetics, and wound healing).
PubMed: 38111842
DOI: 10.3205/iprs000181 -
Indian Journal of Dermatology 2023
PubMed: 38099114
DOI: 10.4103/ijd.ijd_47_23 -
International Journal of Surgery Case... Aug 2023This article has been withdrawn at the request of the author(s) and/or editor. The Publisher apologizes for any inconvenience this may cause. The full Elsevier Policy on...
This article has been withdrawn at the request of the author(s) and/or editor. The Publisher apologizes for any inconvenience this may cause. The full Elsevier Policy on Article Withdrawal can be found at https://www.elsevier.com/about/policies/article-withdrawal.
PubMed: 38092617
DOI: 10.1016/j.ijscr.2023.108617 -
Radiology Case Reports Jan 2024Plexiform schwannoma is a rare subtype of schwannoma. In this report, we present a case of plexiform schwannoma arising from the sciatic, tibial, and peroneal nerves. A...
Plexiform schwannoma is a rare subtype of schwannoma. In this report, we present a case of plexiform schwannoma arising from the sciatic, tibial, and peroneal nerves. A 54-year-old man presented with a painful palpable mass extending from the left posterior thigh to the calf. Magnetic resonance imaging showed multiple bead-like nodular structures along the sciatic, tibial, and peroneal nerve pathway. The nodular lesions showed uniform signal intensity on T1-weighted imaging. On T2-weighted imaging, each nodule showed an eccentric area of relatively low signal intensity surrounded by an area of higher signal intensity and a low-intensity rim. Plexiform schwannoma or neurofibroma was considered as the preoperative diagnosis. Because of the patient's severe symptoms and strong desire for relief, tumor enucleation of the largest painful nodule was performed, and plexiform schwannoma was confirmed pathologically.
PubMed: 38028287
DOI: 10.1016/j.radcr.2023.10.009