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Translational Vision Science &... Mar 2024The purpose of this study was to investigate the spectral characteristics of choroidal nevi and assess the feasibility of quantifying the basal diameter of choroidal...
PURPOSE
The purpose of this study was to investigate the spectral characteristics of choroidal nevi and assess the feasibility of quantifying the basal diameter of choroidal nevi using multispectral fundus images captured with trans-palpebral illumination.
METHODS
The study used a widefield fundus camera with multispectral (625 nm, 780 nm, 850 nm, and 970 nm) trans-palpebral illumination to examine eight subjects diagnosed with choroidal nevi. Geometric features of nevi, including border clarity, overlying drusen, and lesion basal diameter, were characterized. Clinical imagers, including scanning laser ophthalmoscopy (SLO), autofluorescence (AF), and optical coherence tomography (OCT), were utilized for comparative assessment.
RESULTS
Fundus images depicted nevi as dark regions with high contrast against the background. Near-infrared (NIR) fundus images provided enhanced visibility of lesion borders compared to visible fundus images and SLO images. Lesion-background contrast measurements revealed 635 nm SLO at 11% and 625 nm fundus at 42%. Significantly enhanced contrasts were observed in NIR fundus images at 780 nm (73%), 850 nm (63%), and 970 nm (67%). For quantifying the diameter of nevi, NIR fundus images at 780 nm and 850 nm yielded a deviation of less than 10% when compared to OCT measurements.
CONCLUSIONS
NIR fundus photography with trans-palpebral illumination enhances nevi visibility and boundary definition compared to SLO. Agreement in diameter measurements with OCT validates the accuracy and reliability of this method for choroidal nevi assessment.
TRANSLATIONAL RELEVANCE
Multispectral fundus imaging with trans-palpebral illumination improves choroidal nevi visibility and accurately measures basal diameter, promising to enhance clinical practices in screening, diagnosis, and monitoring of choroidal nevi.
Topics: Humans; Lighting; Reproducibility of Results; Nevus, Pigmented; Choroid Neoplasms; Nevus; Skin Neoplasms; Photography
PubMed: 38546980
DOI: 10.1167/tvst.13.3.25 -
African Journal of Paediatric Surgery :... Apr 2024Atypical neurofibromatous neoplasm with uncertain biologic potential presenting as a paratesticular scrotal mass in a neonate with congenital giant melanocytic nevus is...
Atypical neurofibromatous neoplasm with uncertain biologic potential presenting as a paratesticular scrotal mass in a neonate with congenital giant melanocytic nevus is rare. Only one such case of neonatal scrotal neurofibroma has been reported earlier. We report an additional case and its management.
Topics: Infant, Newborn; Humans; Skin Neoplasms; Nevus, Pigmented; Neurofibroma; Biological Products
PubMed: 38546256
DOI: 10.4103/ajps.ajps_17_23 -
Cancer Medicine Apr 2024Acral melanoma (AM) is the most common subtype of malignant melanoma in China, with a very poor prognosis. Despite the frequent reporting of trauma events in AM cases,...
INTRODUCTION
Acral melanoma (AM) is the most common subtype of malignant melanoma in China, with a very poor prognosis. Despite the frequent reporting of trauma events in AM cases, the precise etiology of AM remains elusive.
METHODS
A retrospective analysis was conducted on a cohort of 303 AM patients at Nanjing Drum Tower Hospital. The patients were categorized into four distinct groups based on different patterns of disease onset: trauma type (Type 1), pigmented nevus type (Type 2), pigmented nevi with trauma (Type 3), and pigmented nevi with natural ulceration (Type 4). Differences in clinicopathological features, genetic alterations, and tumor immune microenvironment (TIME) were analyzed.
RESULTS
Traumatic events accounted for a large proportion of AM cases. Among these categories, Type 1 patients displayed the least favorable pathological traits and an immunosuppressive TIME. Common copy number variations (CNVs) were observed in CCND1, RB1, FGF19, and IL7R, while CNVs in CDK4 and TERT occurred less frequently in patients with a history of trauma (Type 1 and Type 3). Type 2 patients exhibited the most favorable pathological characteristics and genetic profiles, and demonstrated the lowest incidence of CCDN1 and RB1 CNVs but had the highest CDK4 CNVs. In contrast, the pathological behavior of Type 3 and Type 4 patients was in between Type 1 and Type 2. And patients in Type 3 and Type 4 displayed a more favorable overall microenvironment.
CONCLUSION
This study provides a clinical classification of Chinese AM based on diverse clinical onset characteristics and highlights the important role of trauma in AM. These findings may help to guide the diagnosis, treatment, and prognosis of AM patients. Further investigations are imperative to elucidate the underlying mechanisms governing the association between trauma and AM.
Topics: Humans; Melanoma; Retrospective Studies; DNA Copy Number Variations; Skin Neoplasms; Nevus, Pigmented; Tumor Microenvironment
PubMed: 38545846
DOI: 10.1002/cam4.7137 -
Journal Francais D'ophtalmologie Mar 2024
Topics: Humans; Endothelium, Corneal; Nevus, Pigmented; Skin Neoplasms
PubMed: 38536391
DOI: 10.1016/j.jfo.2023.09.006 -
The American Journal of Surgical... May 2024Drivers of Spitz neoplasms include activating point mutations in HRAS and Spitz-associated genomic fusions. It has become evident that some BRAF -mutated melanocytic...
Drivers of Spitz neoplasms include activating point mutations in HRAS and Spitz-associated genomic fusions. It has become evident that some BRAF -mutated melanocytic neoplasms can morphologically mimic Spitz tumors (STs). These have been termed BRAF mutated and morphologically spitzoid (BAMS). In this study, 17 experts from the International Melanoma Pathology Study Group assessed 54 cases which included 40 BAMS and 14 true STs. The participants reviewed the cases blinded to the genomic data and selected among several diagnostic options, including BAMS, ST, melanoma, and other. A total of 38% of all diagnostic selections in the BAMS cases were for BAMS, whereas 32% were for ST. In 22 of the BAMS cases, the favored diagnosis was BAMS, whereas in 17 of the BAMS cases, the favored diagnosis was ST. Among the 20 cases in the total group of 54 with the highest number of votes for ST, half were BAMS. Of BAMS, 75% had a number of votes for ST that was within the SD of votes for ST seen among true ST cases. There was poor interobserver agreement for the precise diagnosis of the BAMS (kappa = 0.16) but good agreement that these cases were not melanoma (kappa = 0.7). BAMS nevi/tumors can closely mimic Spitz neoplasms. Expert melanoma pathologists in this study favored a diagnosis of ST in nearly half of the BAMS cases. There are BAMS cases that even experts cannot morphologically distinguish from true Spitz neoplasms.
Topics: Humans; Melanoma; Skin Neoplasms; Proto-Oncogene Proteins B-raf; Nevus, Epithelioid and Spindle Cell; Nevus; Diagnosis, Differential
PubMed: 38525831
DOI: 10.1097/PAS.0000000000002194 -
Pathology, Research and Practice Apr 2024Among nevus-associated melanomas, which overall account for 20%-30% of all melanomas, those arising specifically in congenital melanocytic nevi are infrequent, but can... (Review)
Review
Among nevus-associated melanomas, which overall account for 20%-30% of all melanomas, those arising specifically in congenital melanocytic nevi are infrequent, but can be disproportionately frequent in childhood and adolescence. Congenital melanocytic nevi (CMNi) are common benign melanocytic tumors that are present at birth or become apparent in early childhood. They are classified based on the projected adult size. Small and medium-sized CMNi are frequent, whereas large/giant CMNi (over 20 cm in diameter) are rare, but can be associated with high morbidity due to marked aesthetic impairment and the risk of neurocutaneous syndrome or melanoma development. In this setting, melanomas can appear in early childhood and are very aggressive, while the risk of small-medium CMNi of developing melanoma is low and similar to non-congenital melanocytic nevi. Histologically, most melanomas on CMNi initiate their growth at the epidermal-dermal junction, but in large/giant CMNi they can develop entirely in the dermis, in deeper tissues, or in extracutaneous sites (especially in the central nervous system). Most CMNi harbour an NRAS mutation, but other genes are rarely involved, and gene translocations have recently been described. However, no prognostic implications have been associated with the CMN genotype. Melanomas developed on CMNi harbour additional molecular alterations to which the aggressive clinical course of these tumors has been attributed. This review covers the distinctive clinical and pathological aspects of melanomas on CMNi, and includes the epidemiology, etiopathogenesis, clinical and dermoscopic presentation, histological and molecular characteristics, as well as tumour behaviour.
Topics: Adult; Infant, Newborn; Adolescent; Humans; Child, Preschool; Melanoma; Skin Neoplasms; Nevus, Pigmented; Nevus, Epithelioid and Spindle Cell; Nitroimidazoles
PubMed: 38518732
DOI: 10.1016/j.prp.2024.155262 -
The American Journal of Dermatopathology May 2024
Topics: Humans; Nevus, Pigmented; Skin Neoplasms; Nevus
PubMed: 38513122
DOI: 10.1097/DAD.0000000000002673 -
Pediatric and Developmental Pathology :... 2024Blue rubber bleb nevus syndrome (BRBNS) is an uncommon vascular anomaly characterized by multifocal cutaneous, visceral, and other soft tissue or solid organ venous...
INTRODUCTION
Blue rubber bleb nevus syndrome (BRBNS) is an uncommon vascular anomaly characterized by multifocal cutaneous, visceral, and other soft tissue or solid organ venous malformations. We observed that BRBNS lesions express immunohistochemical markers of lymphatic differentiation.
METHODS
BRBNS histopathologic specimens assessed at our institution during the past 27 years were reviewed. Slides from 19 BRBNS lesions were selected from 14 patients (9 cutaneous, 9 gastrointestinal, and 1 hepatic). We recorded the involved anatomical compartments and presence/absence of thrombi or vascular smooth muscle. Immunohistochemical endothelial expression of PROX1 (nuclear) and D2-40 (membranous/cytoplasmic) was evaluated semi-quantitatively.
RESULTS
Endothelial PROX1 immunopositivity was noted in all specimens; the majority (89.5%) demonstrated staining in more than 10% of cells. D2-40 immunopositivity was present in one-third (33%) of cutaneous lesions and only 1 gastrointestinal lesion.
CONCLUSION
Endothelial cells in BRBNS almost always express 1 or more immunohistochemical markers of lymphatic differentiation.
Topics: Humans; Nevus, Blue; Skin Neoplasms; Male; Child; Female; Immunohistochemistry; Child, Preschool; Adolescent; Gastrointestinal Neoplasms; Biomarkers, Tumor; Infant; Tumor Suppressor Proteins; Homeodomain Proteins; Endothelium, Lymphatic; Antibodies, Monoclonal, Murine-Derived
PubMed: 38512910
DOI: 10.1177/10935266241228930 -
Journal of the American Academy of... Jul 2024
Topics: Humans; Nevus, Pigmented; Skin Neoplasms; Magnetic Resonance Imaging; Practice Guidelines as Topic; Female; Male
PubMed: 38508417
DOI: 10.1016/j.jaad.2024.01.090 -
Lasers in Surgery and Medicine Apr 2024Limited research exists on laser treatment of giant congenital melanocytic nevus (GCMN).
BACKGROUND
Limited research exists on laser treatment of giant congenital melanocytic nevus (GCMN).
OBJECTIVE
We sought to elucidate the efficacy of the Erbium: YAG laser on GCMN and the histologic factors associated with a positive clinical response.
METHODS AND MATERIALS
Between 2019 and 2022, we enrolled 30 medium-to-giant CMN patients who underwent Er: YAG laser treatment. All patients received biopsies before and after laser treatments. Clinical efficacy outcomes were evaluated by the investigator's global assessment (IGA), 5-point scale of depigmentation, and Vancouver Scar Scale (VSS) scores at least 6 months after treatment.
RESULTS
Of the 30 cases, 18 (60.0%) showed improvement (IGA score ≥3). Eight (26.7%) patients showed repigmentation. Eight (26.7%) patients developed hypertrophic scars. The average IGA, depigmentation, and VSS scores were 2.93, 3.57, and 3.20. The IGA score was higher (3.24 ± 1.18 vs. 2.22 ± 0.97, p = 0.031) and a lower repigmentation rate (14.3% vs. 55.6%, p = 0.032) was observed in the cases with Grenz zone. The IGA score was higher (3.33 ± 1.24 vs. 2.13 ± 0.89, p = 0.023) and the repigmentation rate was lower (11.1% vs. 50.0%, p = 0.034) also in the cases with the melanocytes nests with aggregation of melanin. Lesions with superficial ablation resulted in less hypertrophic scar formation than those with deep ablation (5.9% vs. 53.8%, p < 0.05).
CONCLUSION
The Er: YAG laser demonstrated effective clinical results for GCMNs. The grenz zone and the melanocytes nests with aggregation of melanin are promising predictors of laser efficacy.
Topics: Humans; Erbium; Melanins; Lasers, Solid-State; Laser Therapy; Treatment Outcome; Nevus, Pigmented; Cicatrix, Hypertrophic; Immunoglobulin A; Skin Neoplasms
PubMed: 38506244
DOI: 10.1002/lsm.23776