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Anais Brasileiros de Dermatologia 2023A lot of congenital melanocytic nevi (CMN) carry the somatic mutation in the oncogene BRAF V600E. But the detailed histopathologic characteristics and the proliferative...
BACKGROUND
A lot of congenital melanocytic nevi (CMN) carry the somatic mutation in the oncogene BRAF V600E. But the detailed histopathologic characteristics and the proliferative activity of CMN with BRAF V600E gene mutation have not been systematically documented.
OBJECTIVE
To identify the proliferative activity and histopathological features correlating them with BRAF V600E gene mutation status in CMN.
METHODS
CMN were retrospectively identified from the laboratory reporting system. Mutations were determined by Sanger sequencing. The CMN were divided into a mutant group and control group according to whether there was BRAF gene mutation and were strictly matched according to gender, age, nevus size, and location. Histopathological analysis, analysis of Ki67 expression by immunohistochemistry and laser confocal fluorescence microscopy were performed.
RESULTS
The differences in Ki67 index, the depth of nevus cell involvement and the number of nevus cell nests between the mutant group and the control group was statistically significant, with p-values of 0.041, 0.002 and 0.007, respectively. Compared with BRAF V600E negative nevi, BRAF V600E positive nevi often exhibited predominantly nested intraepidermal melanocytes, and larger junctional nests, but the difference in this data sets were not statistically significant. The number of nests (p = 0.001) was positively correlated with the proportion of Ki67 positive cells.
STUDY LIMITATIONS
A small sample of patients were included and there was no follow-up.
CONCLUSIONS
BRAF V600E gene mutations were associated with high proliferative activity and distinct histopathological features in congenital melanocytic nevi.
Topics: Humans; Child; Proto-Oncogene Proteins B-raf; Skin Neoplasms; Retrospective Studies; Ki-67 Antigen; Nevus, Pigmented; Nevus; Mutation
PubMed: 37156689
DOI: 10.1016/j.abd.2022.01.016 -
Anais Brasileiros de Dermatologia 2020Spitz nevus is a benign melanocytic lesion, which presents in several ways: solitary, agminated, or disseminated. The disseminated variant is uncommon; it may have a...
Spitz nevus is a benign melanocytic lesion, which presents in several ways: solitary, agminated, or disseminated. The disseminated variant is uncommon; it may have a rapid evolution (the eruptive form) and be difficult to manage. This report presents the case of a 24-year-old patient with multiple papules on his limbs, which had appeared four years previously. On physical examination, 120 pink and skin-colored papules were seen, which under dermoscopy were observed to be homogeneous, pink vascular lesions. Histopathologic study revealed epithelioid cells arranged in groups or singly in the dermis and dermo-epidermal junction. They were HMB-45 positive in the superficial dermis, and Ki-67<1%. Given these findings, a diagnosis of eruptive disseminated Spitz nevi was made.
Topics: Biopsy; Dermoscopy; Humans; Immunohistochemistry; Male; Melanocytes; Nevus, Epithelioid and Spindle Cell; Skin Neoplasms; Young Adult
PubMed: 31899063
DOI: 10.1016/j.abd.2019.01.010 -
International Journal of Molecular... Sep 20235-Hydroxymethylcytosine (5-hmC) is an important intermediate of DNA demethylation. Hypomethylation of DNA is frequent in cancer, resulting in deregulation of 5-hmC...
5-Hydroxymethylcytosine (5-hmC) is an important intermediate of DNA demethylation. Hypomethylation of DNA is frequent in cancer, resulting in deregulation of 5-hmC levels in melanoma. However, the interpretation of the intensity and distribution of 5-hmC immunoreactivity is not very standardized, which makes its interpretation difficult. In this study, 5-hmC-stained histological slides of superficial spreading melanomas (SSM) and dysplastic compound nevi (DN) were digitized and analyzed using the digital pathology and image platform QuPath. Receiver operating characteristic/area under the curve (ROCAUC) and t-tests were performed. A -value of <0.05 was used for statistical significance, and a ROCAUC score of >0.8 was considered a "good" result. In total, 92 5-hmC-stained specimens were analyzed, including 42 SSM (45.7%) and 50 DN (54.3%). The mean of 5-hmC-positive cells/mm for the epidermis and dermo-epidermal junction and the entire lesion differed significantly between DN and SSM ( = 0.002 and = 0.006, respectively) and showed a trend towards higher immunoreactivity in the dermal component ( = 0.069). The ROCAUC of 5-hmC-positive cells of the epidermis and dermo-epidermal junction was 0.79, for the dermis 0.74, and for the entire lesion 0.76. These results show that the assessment of the epidermal with junctional expression of 5-hmC is slightly superior to dermal immunoreactivity in distinguishing between DN and SSM.
Topics: Humans; Dysplastic Nevus Syndrome; Skin Neoplasms; Melanoma; Computers; Melanoma, Cutaneous Malignant
PubMed: 37834158
DOI: 10.3390/ijms241914711 -
PloS One 2022Some melanocytic lesions do not present enough clinical and dermoscopic features to allow ruling out a possible melanoma diagnosis. These "doubtful melanocytic lesions"...
Some melanocytic lesions do not present enough clinical and dermoscopic features to allow ruling out a possible melanoma diagnosis. These "doubtful melanocytic lesions" pose a very common and challenging scenario in clinical practice and were selected at this study for reflectance confocal microscopy evaluation and subsequent surgical excision for histopathological diagnosis. The study included 110 lesions and three confocal features were statistically able to distinguish benign melanocytic lesions from melanomas: "peripheral hotspot at dermo-epidermal junction", "nucleated roundish cells at the dermo-epidermal junction" and "sheet of cells". The finding of a peripheral hotspot (atypical cells in 1mm2) at the DEJ is highlighted because has not been previously reported in the literature as a confocal feature related to melanomas.
Topics: Diagnosis, Differential; Humans; Melanoma; Microscopy, Confocal; Nevus, Pigmented; Retrospective Studies; Sensitivity and Specificity
PubMed: 35157706
DOI: 10.1371/journal.pone.0263819 -
Journal of Clinical Imaging Science 2024Neural crest cells (NCCs) are transient structures in the fetal life in vertebrates, which develop at the junctional site of the non-neural and neural ectoderm, sharing...
OBJECTIVES
Neural crest cells (NCCs) are transient structures in the fetal life in vertebrates, which develop at the junctional site of the non-neural and neural ectoderm, sharing a common developmental origin for diverse diseases. After Epithelio-mesenchymal (EMT) of the NCCs within the neural tube, delamination of NCCs occurs. After delamination, the transformation of these cells into various cell lineages produces melanocytes, bones, and cartilage of the skull, cells of the enteric and peripheral nervous system. After the conversion, these cells migrate into various locations of the entire body according to the cell lineage. Abnormalities in neural crest (NC) formation and migration result in various malformations and tumors, known as neurocristopathy.
MATERIAL AND METHODS
Herein, this case series describes a single-center experience in cephalic NC disorders over the past 3 years, including 17 cases of varying composition (i.e., vascular, dysgenetic, mixed, and neoplastic forms) involving the brain and occasionally skin, eyes, and face of the patients.
RESULTS
In our study of 17 patients with cephalic NC disease, 6 (35.3%) patients had vascular form, 5 (29.4%) had dysgenetic form, 4 (23.5%) had mixed form, and 2 (11.7%) had neoplastic form. Brain involvement in the form of vascular or parenchyma or both vascular and parenchymal was seen in all of our patients (100%), skin in 6 (35.3%) patients, eye in 2 (11.7%), and face in 1 (5.9%) patient. Treatment was planned according to the various manifestations of the disease.
CONCLUSION
Neural crest diseases (NCDs) are a rare and under-recognized group of disorders in the literature and may have been under-reported due to a lack of awareness regarding the same. More such reporting may increase the repertoire of these rare disorders such that clinicians can have a high degree of suspicion leading to early detection and timely counseling and also improve preventive strategies and help in developing new drugs for these disorders or prevent them.
PubMed: 38469176
DOI: 10.25259/JCIS_87_2023 -
Chinese Medical Journal Sep 2019Compared with Caucasians, unique demographic and clinical features have been reported in Chinese patients with malignant melanoma, but similar comparative studies of...
BACKGROUND
Compared with Caucasians, unique demographic and clinical features have been reported in Chinese patients with malignant melanoma, but similar comparative studies of melanocytic nevi (MN) are lacking. This study examined the clinical and dermoscopic features of MN in surgically treated Chinese cases.
METHODS
Clinical data and dermoscopic findings from 1046 cases of MN were collected and analyzed. Cases were treated from January 1 to December 31, 2014 at the Department of Dermatology and Venerology, Peking University First Hospital. The association between nevi location and histologic subtypes was examined with Chi-squared test and univariate logistic regression. Chi-squared test was also used to analyze the proportion of globular patterns across different body sites, and proportion of parallel furrow patterns across different histologic subtypes.
RESULTS
The majority of the nevi were from female patients, irrespective of location. The range of age at the time of nevi onset was from 0 (birth) to 79 years. There were 381 (36.4%, 381/1046) congenital nevi; of these 81.6% (311/381) were present at birth. Nevi appeared before 30 years of age in 83.2% (870/1046) of the cases. Median values of length growth rate in congenital and acquired MN were 2.0 and 1.6, respectively. Median values of length growth rates in four age groups (0-9, 10-19, 20-29, and ≥30 years) of congenital nevi were 2.2, 2.0, 2.4, and 2.0, respectively. In acral nevi, which often need to be differentiated from acral lentiginous melanoma, 50.2% (109/217) were junctional (odds ratio [OR]; 95% confidence interval [CI]: 91.572 [52.210-160.959], P < 0.05). Acral location was also associated with a higher likelihood of compound nevi subtype (OR [95% CI]: 14.468 [8.981-23.306], P < 0.05). The globular (59.4%, 354/596) and pseudonetwork (48.8%, 291/596) dermoscopic patterns were often seen in the head and neck region. In areas other than head and neck and acral regions, the globular pattern was the commonest pattern (34.8%, 71/204) regardless of age. Parallel furrow pattern occurred in 46.0% (87/189) of acral MN, followed by fibrillar pattern (21.7%, 41/189).
CONCLUSION
Unique clinical and dermoscopic features exist in Chinese patients with MN compared with observations reported in other population.
Topics: Adolescent; Adult; Aged; Chi-Square Distribution; Child; Dermoscopy; Female; Humans; Logistic Models; Male; Melanoma; Middle Aged; Nevus, Pigmented; Retrospective Studies; Young Adult
PubMed: 31460902
DOI: 10.1097/CM9.0000000000000416 -
Annals of the Royal College of Surgeons... Oct 2021Malignant melanoma of the gastrointestinal tract is usually a metastasis from a cutaneous source. Primary gastric melanoma is an extremely rare clinical entity, with few...
Malignant melanoma of the gastrointestinal tract is usually a metastasis from a cutaneous source. Primary gastric melanoma is an extremely rare clinical entity, with few reported cases worldwide. It is often advanced at the time of diagnosis and is associated with a poor outcome. We report a case of a 57-year-old male who presented to the emergency department with complaints of fatigue, haematemesis and melena. Laboratory investigation indicated a haemoglobin level of 7.4g/dl, for which the patient received a transfusion. Upper gastrointestinal endoscopy revealed a bleeding mass in the body of stomach which provisional histology was suggestive of a malignant mesenchyimal tumour but subsequent cytomorphology and immunophenotyping were consistent with malignant melanoma, with positive S-100, HMB-45 and Melan-A. Dermatological exam indicated two lesions suspicious for the primary site of metastasis but were ultimately diagnosed as benign lesions, one junctional nevus and other one seborrheic keratosis, on biopsies. Ophthalmologic exam showed no other probable sites of origin. PET/CT showed accumulation of tracer in the stomach, jejunum and perigastric lymph nodes. For this reason, primary advanced gastric melanoma was suspected in this patient. Since the patient had recurrent upper gastrointestinal bleeding that required frequent blood transfusion, a total gastrectomy with partial small bowel resection was performed. We report this case to present initial diagnostic challange and discuss performing surgery for recurrent tumour bleeding.
Topics: Gastrointestinal Hemorrhage; Humans; Male; Melanoma; Middle Aged; Recurrence; Stomach Neoplasms; Upper Gastrointestinal Tract
PubMed: 34431710
DOI: 10.1308/rcsann.2020.7139 -
Journal of Biomedical Optics Sep 2022Skin malformations in dermatology are mostly evaluated subjectively, based on a doctor's experience and visual perception; an option for objective quantitative skin...
SIGNIFICANCE
Skin malformations in dermatology are mostly evaluated subjectively, based on a doctor's experience and visual perception; an option for objective quantitative skin assessment is camera-based spectrally selective diagnostics. Multispectral imaging is a technique capable to provide information about concentrations of the absorbing chromophores and their distribution over the malformation in a noncontact way. Conversion of spectral images into distribution maps of chromophores can be performed by means of the modified Beer-Lambert law. However, such distribution maps represent only single specific cases, therefore, some extensive method for data comparison is needed.
AIM
This study aims to develop a more informative approach for identification and characterization of skin malformations using three-dimensional (3D) representation of triple spectral line imaging data.
APPROACH
The 3D-representation method is experimentally tested on eight different skin pathology types, including both benign and malignant pathologies; an imaging device ensuring uniform three laser line (448, 532, and 659 nm) illumination is used. Three spectral line images are extracted from a single snapshot RGB image data, with subsequent calculation of attenuation coefficients for each working wavelength at every image pixel and represented as 3D graphs. Skin chromophore content variations in malformations are represented in a similar way.
RESULTS
Clinical measurement results for 99 skin pathologies, including basal cell carcinomas, melanoma, dermal nevi, combined nevi, junctional nevi, blue nevi, seborrheic keratosis, and hemangiomas. They are presented as 3D spectral attenuation maps exhibiting specific individual features for each group of pathologies. Along with intensity attenuation maps, 3D maps for content variations of three main skin chromophores (melanin, oxyhemoglobin, and deoxyhemoglobin), calculated in frame of a model based on modified Beer-Lambert law, are also presented. Advantages and disadvantages of the proposed data representation method are discussed.
CONCLUSIONS
The described 3D-representation method of triple spectral line imaging data shows promising potential for objective quantitative noncontact diagnosis of skin pathologies.
Topics: Diagnostic Imaging; Humans; Melanins; Nevus; Oxyhemoglobins; Skin
PubMed: 36114603
DOI: 10.1117/1.JBO.27.9.095005 -
Dermatology and Therapy Feb 2022Topical imiquimod is an off-label alternative treatment for lentigo maligna used when surgery cannot be performed. Severe inflammatory response induced by this drug may...
Topical imiquimod is an off-label alternative treatment for lentigo maligna used when surgery cannot be performed. Severe inflammatory response induced by this drug may generate many complaints and force patients to discontinue use. We present a case in which interval treatment with 5% topical imiquimod was implemented for severe inflammatory response. An 82-year-old Caucasian woman presented with a large, irregularly pigmented lesion on her left cheek within the scar of a previously excised melanocytic lesion diagnosed as junctional nevus. Based on dermatoscopical examination confirmed by histopathological description, lentigo maligna was diagnosed. Since the lesion was large and covered the lower left eyelid and due to the risk of disfigurement, the patient refused surgical excision. Therefore, treatment with imiquimod 5% once daily, five times per week, was offered. After 5 weeks, the treatment was stopped because of intense inflammatory reaction and ulceration. On the follow-up visit after 3 months, videodermatoscopical examination revealed changes in the pigmentation of the lentigo maligna including the presence of residual gray dots and fading of the previous dark brown and black colors. The inflammatory response had almost resolved. The second course of treatment with imiquimod five times a week was implemented again for 5 weeks, and after a 2-month interval the third course with the same regimen was started. Total clearance of the lesion was achieved, which was confirmed by videodermatoscopical examination. During the 2-year follow-up, no relapse was observed based on dermatoscopical examination. We propose interval treatment with topical imiquimod 5% lentigo maligna for severe inflammatory reactions in patients with contraindications to surgery. This could help patients overcome this typical response effect and decrease their cessation of treatment.
PubMed: 35083713
DOI: 10.1007/s13555-021-00667-w -
Actas Dermo-sifiliograficas Mar 2021Nevi of special sites (NOSS) are benign melanocytic lesions that occur at particular sites. Although the histological features of NOSS have been described, their...
BACKGROUND
Nevi of special sites (NOSS) are benign melanocytic lesions that occur at particular sites. Although the histological features of NOSS have been described, their immunophenotypic features have not been fully characterized.
AIMS
To present the clinicopathological characteristics of a case series of NOSS and to characterize their immunohistochemical profile.
MATERIALS AND METHODS
Thirty-five NOSS were assessed using immunoperoxidase staining techniques for the melanocytic (S100, Melan-A, and HMB45) and proliferation (Ki-67) markers RESULTS: All of the cases of NOSS showed concerning architectural changes (prominent lentiginous melanocytic proliferation, irregularities, crowdedness, and dyhesiveness of the nests), and cytological atypia (large nevomelanocytes with vesicular nuclei, clear cytoplasm, and dusty melanin pigment) that can lead to a misdiagnosis of atypical nevi or even melanomas. All of the cases of NOSS showed diffuse expression of S100 and Melan-A proteins. Ki-67 labeling index of the nevomelanocytes was extremely low. HMB45 protein expression was limited to the junctional and superficial dermal nevomelanocytes.
CONCLUSIONS
NOSS can show histological features that can easily mimic atypical nevi or melanomas and this diagnostic consideration should be kept in mind to avoid their misdiagnosis. The expression of HMB45 protein in NOSS indicates that their nevomelanocytic cells have an activated phenotype. The decreased HMB45 protein expression following a gradient from junctional to deeper dermal localization in NOSS is indicative of their immunohistochemical maturation.
Topics: Humans; Melanoma; Nevus; Nevus, Epithelioid and Spindle Cell; Nevus, Pigmented; Skin Neoplasms
PubMed: 33232704
DOI: 10.1016/j.ad.2020.11.009