Volumetric measurement techniques for assessment of cutaneous neurofibromas:A review

Cutaneous neurofibroma(cNF)is a prevalent clinical manifestation of neurofibromatosis type 1,significantly affecting the well-being and quality of life of the affected individuals.The adoption of reliable and reproducible volumetric measurement techniques is essential for precisely evaluating tumor burden and plays a critical role in the development of effective treatments for cNF.This study focuses on widely used volumetric measurement techniques,including vernier calipers,ultrasound,computed tomography,magnetic resonance imaging,and three-dimensional scanning imaging.It outlines the merits and drawbacks of each technique in assessing the cNF load,providing an overview of their current applications and ongoing research advancements in this domain.

History and prospect of melanocytic nevus treatment:A bibliometric analysis

Background:Melanocytic nevus is mainly treated by complete or partial removal.However,predicting the risk of malignant transformation of melanocytic nevi and which treatment patients should receive,surgical or nonsurgical management,to gain the best results and aesthetic outcomes is controversial.Methods:Global literature on melanocytic nevus treatment,published between 1997 and 2022,was scanned using the Web of Science Core Collection database.Microsoft Office Excel,CiteSpace V,VOSviewer,Scimago Graphica,Bibliometrix,and Biblioshiny packages in R were used for the bibliometric analysis to summarize the leading countries,institutions,professors,and research trends in this field.Results:This study included 1723 articles.Publications and citations exhibited positive trends over the past 20 years.The United States had the most productive organizations and publications in the comprehensive worldwide cooperation network,and China was recently one of the most active major participants.Professor Giovanni Pellacani,whose H-index,G-index,and M-index ranked first in this field,founded a virtual biopsy using reflectance confocal microscopy.In addition,Krengel and Kinsler contributed significantly to diagnosing and treating melanocytic nevi.The top 25 keywords in recent years were mostly about the mechanisms and risk factors for the malignant transformation of nevi.Conclusion:The future trend for melanocytic nevi treatment is to specify genotype-phenotype and genotypeoutcome correlations,choose proper therapy to reduce the risk of malignant transformation,and simultaneously achieve the best aesthetic outcomes.

Analysis of the current Covid-19 infection and vaccination status in patients with neurofibromatosis type 1

Background:To investigate the common symptoms after Covid-19 infection,characteristics of adverse events after vaccination,changes in clinical manifestations related to Neurofibromatosis type 1(NF1),as well as the current vaccination status and factors related to vaccine hesitation among NF1 patients,in order to provide a basis for scientific protection and vaccine acceptance in NF1 individuals in the new phase of pandemic management.Methods:From December 29,2022,to January 10,2023,we conducted a self-assessment questionnaire survey among diagnosed NF1 patients.General data were provided including sex,age,main clinical presentations,and current treatment.This study mainly focused on the infection and vaccination status of Covid-19 among these patients with NF1.The data were statistically analyzed using SPSS26.0 software.Results:Of the 250 questionnaires distributed,226 were valid.Among the 164 patients(72.6%)with Covid-19 infection,the most common infection symptoms and incidence of patients were not significantly different from those in the normal population(P>0.05),but the incidence of symptoms such as nasal congestion,headache,myalgia,sore throat,abdominal pain,diarrhea,and eye discomfort was higher than that in the normal population(P<0.05),and no severe infection was observed;186 patients(82.3%)had completed the Covid-19 vaccination,and more than half of those who were not vaccinated had no plans for vaccination.Among the vaccinated patients,there was no significant difference in the incidence of adverse events,such as fever,pain,redness,and swelling at the injection site after vaccination,compared to the normal population(P>0.05),but the incidence of fatigue and headache was higher in NF1 patients(P<0.001).Most patients with NF1 believe that there is no significant progressive change in NF1-related clinical manifestations after Covid-19 infection and vaccination.Conclusion:Currently,some NF1 patients appear to be worried about the evolution of their disease after Covid-19 infection in the face of large fluctuations in the pandemic situation,and some patients hesitate to receive the vaccine due to their special disease condition.Thus,clinical trials should be conducted to develop a refined pandemic response and vaccination program for this special group.

PD-L1 Expression and Tumor Infiltrating Lymphocytes in Neurofibromatosis Type 1-Related Benign Tumors and Malignant Peripheral Nerve Sheath Tumors:An Implication for Immune Checkpoint Inhibition Therapy

Background Neurofibromatosis type 1(NF1)is an autosomal dominant inherited disorder.It can affect multiple systems of the body and cause severe disfigurement and discomfort in these patients.There are two types of neurofibromas,named cutaneous and plexiform neurofibromas.The latter type may transform into malignant peripheral nerve sheath tumors(MPNSTs).Surgical resection is difficult to perform owing to the complex tissue structure of neurofibromas;therefore,it is necessary to develop novel and effective therapies for the treatment of these tumors.Programmed cell death protein 1(PD-1)/programmed cell death-ligand 1(PD-L1)-related immune checkpoint inhibitors have been proven effective for various cancers,and the positive expression of PD-L1 and tumor-infiltrating lymphocytes(TILs)has been recognized as a biomarker for the response to immune checkpoint therapy.Methods We conducted immunohistochemistry(IHC)staining to detect PD-L1 expression in plexiform neurofibroma and MPNST tissue samples.Reverse transcription-polymerase chain reaction(RT-PCR)and western blotting were performed to detect PD-L1 and PD-1 expression in MPNST cell lines.IHC staining was used to show immune cell infiltration in NF1 and MPNST tissues.Results IHC staining showed PD-L1 positive expression in neurofibromas and MPNST tumor tissues.In addition,qPCR and western blotting showed high expression of PD-L1 in MPNST tumor cells.IHC staining revealed that aberrant T lymphocytes infiltrated the plexiform neurofibroma and MPNST tumor tissues.Conclusion These results indicate that immune checkpoint mechanisms may play a pivotal role in the development of NF1-related tumors,and immune checkpoint inhibitors may be effective for managing neurofibromas and MPNSTs.Combined therapy with other molecular agents may be explored in the future.

Genotype-phenotype correlations and treatment innovation of neurofibromatosis type 1(NF1):Current understanding and perspective

Neurofibromatosis type 1(NF1)is an autosomal dominant inherited disease caused by mutations in the NF1 gene.It is characterized by cafe-au-lait macules(CALMs),cutaneous neurofibromas(CNF),plexiform neurofibromas(PNF),Lisch nodules,optic pathway gliomas(OPG),potential skeletal abnormalities,and other complications involving multiple organs and systems.[1]Additionally,approximately 10%of individuals with NF1 may progress to develop malignant peripheral nerve sheath tumors(MPNST).[1]The NF1 gene encodes neurofibromin,which regulates Ras and its downstream signaling pathways,such as the mitogen-activated protein kinase(MEK)/extracellular signal-regulated kinase(ERK)and phosphatidylinositol-3-kinase(PI3K)/Akt/mammalian target of rapamycin(mTOR)pathways.

The role of macrophages in the formation of hypertrophic scars and keloids

Numerous studies have shown that macrophages can orchestrate the microenvironment from the early stage of wound healing to the later stages of scar formation.However,few reviews have highlighted the significance of macrophages during the formation of abnormal scars.The purpose of this reviewwas to outline the polarization of macrophages from early to late stage of pathological scar formation,focusing on spatiotemporal diversity of M1 and M2 macrophages.In this review,the role of macrophages in the formation of hypertrophic scars and keloids is summarized in detail.First,an increased number of M2 cells observed before injuries are significantly associated with susceptibility to abnormal scar pathogenesis.Second,decreased expression of M1 at the early stage and delayed expression of M2 at the late stage results in pathological scar formation.Third,M2 cells are highly expressed at both the margin and the superficial region,which is consistent with the invasive property of keloids.Finally,this review helps to characterize strategies for the prediction and prevention of pathological scar formation.