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9 pages, 1164 KB  
Review
Genital Disorders in Children: What Does a Biopsy Bring?
by Francoise Plantier and Fiona Lewis
Dermatopathology 2026, 13(1), 12; https://doi.org/10.3390/dermatopathology13010012 - 23 Mar 2026
Cited by 1 | Viewed by 1209
Abstract
Biopsies are only performed in less than 1% of all consultations dedicated to paediatric genital dermatology. The objectives of this paper are to review and clarify the histopathological features of the conditions most often biopsied: first, lichen sclerosus, which has a peak incidence [...] Read more.
Biopsies are only performed in less than 1% of all consultations dedicated to paediatric genital dermatology. The objectives of this paper are to review and clarify the histopathological features of the conditions most often biopsied: first, lichen sclerosus, which has a peak incidence in childhood and progresses over years; secondly, pigmented lesions, including atypical genital naevi and common naevi in the context of lichen sclerosus, both histologically differential diagnoses of melanoma, which probably does not present in childhood. And finally, Crohn’s disease, which is a cause of vulval oedema or genital ulceration. Full article
(This article belongs to the Special Issue New Insights in Paediatric Dermatopathology 2025)
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18 pages, 1042 KB  
Article
Targeting Melanin Production: The Safety of Tyrosinase Inhibition
by Steffen Erler, Ludger Kolbe, Abdulkarim Najjar, Andreas Schepky, Ahmed Kamal, Daniela Lange and Tamara Rogers
Int. J. Mol. Sci. 2026, 27(1), 97; https://doi.org/10.3390/ijms27010097 - 22 Dec 2025
Cited by 5 | Viewed by 6424
Abstract
Hyperpigmentation remains a persistent dermatological challenge with limited treatment options. Among available strategies, tyrosinase inhibition stands out as the current most effective and safest approach for suppressing melanin synthesis. Thiamidol exemplifies a targeted tyrosinase inhibitor developed over a decade of research, guided by [...] Read more.
Hyperpigmentation remains a persistent dermatological challenge with limited treatment options. Among available strategies, tyrosinase inhibition stands out as the current most effective and safest approach for suppressing melanin synthesis. Thiamidol exemplifies a targeted tyrosinase inhibitor developed over a decade of research, guided by rigorous toxicological evaluation. Although it contains a resorcinol moiety, Thiamidol is not a resorcinol derivative and acts through a distinct thiazole 2-amino moiety. In addition to its targeted mode of action of tyrosinase inhibition rather than inactivation, assessments of cytotoxicity and genotoxicity distinguish it from cosmetic and pharmaceutical active ingredients that form highly reactive ortho- or para-quinones. With further exclusion for off-target effects based on pharma profiling and exposure modeling, Thiamidol’s rapid metabolism and absence of bioaccumulation support its safety profile. While an inhibitory mechanism requires repeated application, this characteristic enhances the safety profile and establishes Thiamidol as a cosmetic ingredient rather than a pharmaceutical. In additional to confirmatory clinical studies for efficacy and skin compatibility, a study shows that the use of Thiamidol-containing products does not negatively impact the dermatological diagnostic accessibility of naevi, which is important for skin health monitoring. Full article
(This article belongs to the Special Issue Melanin Pigmentation: Physiology and Pathology)
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11 pages, 216 KB  
Review
Artificial Intelligence in the Detection and Risk Stratification of Choroidal Melanoma: A Critical Comparative Synthesis and Future Directions
by Daire Hurley, Amy Coman, Elizabeth Tallon, Noel Horgan and Patrick Murtagh
Healthcare 2025, 13(24), 3252; https://doi.org/10.3390/healthcare13243252 - 11 Dec 2025
Cited by 3 | Viewed by 739
Abstract
The early differentiation of benign choroidal naevi from malignant melanoma remains one of the most nuanced challenges in ophthalmic oncology, with profound implications for patient survival. Conventional diagnostic pathways rely on multimodal imaging and expert interpretation, but inter-observer variability and the rarity of [...] Read more.
The early differentiation of benign choroidal naevi from malignant melanoma remains one of the most nuanced challenges in ophthalmic oncology, with profound implications for patient survival. Conventional diagnostic pathways rely on multimodal imaging and expert interpretation, but inter-observer variability and the rarity of melanoma limit timely and consistent detection. Recent advances in artificial intelligence (AI) offer a promising adjunct to conventional ophthalmic practice. This review provides a critical comparative synthesis of the studies to-date which have looked at AI’s use in the detection, risk stratification, and longitudinal monitoring of choroidal melanoma. While early results are promising—with some models achieving an accuracy comparable to expert clinicians—significant challenges remain regarding generalisability, dataset bias, interpretability, and real-world deployment. We conclude by outlining practical priorities for future research to ensure that AI becomes a safe, effective, and equitable tool for improving patient outcomes. Full article
8 pages, 338 KB  
Article
Psychiatric Comorbidities in Adult Patients with Atopic Dermatitis: A Nationwide Cohort Study Compared to Melanocytic Naevi
by Taeuk Kang
Allergies 2025, 5(4), 36; https://doi.org/10.3390/allergies5040036 - 14 Oct 2025
Viewed by 2713
Abstract
Background/Objectives: Atopic dermatitis (AD) is a chronic inflammatory skin disorder increasingly recognized for its association with psychiatric comorbidities. However, the extent of this association compared to dermatologic controls in Asian populations remains underexplored. We sought to evaluate the prevalence and risk of psychiatric [...] Read more.
Background/Objectives: Atopic dermatitis (AD) is a chronic inflammatory skin disorder increasingly recognized for its association with psychiatric comorbidities. However, the extent of this association compared to dermatologic controls in Asian populations remains underexplored. We sought to evaluate the prevalence and risk of psychiatric comorbidities in adult patients with AD compared to those with melanocytic naevi using a nationwide population-based cohort. Methods: We conducted a retrospective cohort study utilizing the Korean National Health Insurance Service (NHIS) database, including individuals diagnosed with AD (ICD-10 code L20.0) or melanocytic naevi (ICD-10 code D22, excluding melanoma) between 1 January 2010 and 31 December 2023. Patients were required to have at least five years of diagnostic history and be 25 years or older at the end of the study. Psychiatric comorbidities were identified based on ICD-10 codes. Adjusted odds ratios (ORs) and 95% confidence intervals (CIs) were calculated to compare psychiatric morbidity between groups. Results: Among 1,902,114 individuals (1,813,320 with AD and 88,794 with naevi), psychiatric comorbidities were more prevalent in the AD group (28.2%) compared to the naevi group (27.1%) (adjusted OR 1.04, 95% CI 1.02–1.05). While differences for major depression, bipolar disorder, and personality disorders were not statistically significant, other psychiatric categories suggested significantly higher prevalence in the AD group. Sex-stratified analysis revealed a higher overall psychiatric morbidity in women compared to men; however, the relative risk increase associated with AD was slightly greater in men than in women. Comparison with previous international studies suggests that Korea’s healthcare accessibility and nationwide mental health programs may contribute to the smaller observed difference. Conclusions: This large-scale cohort study highlights a modest but significant association between AD and psychiatric comorbidities in adults. Our findings underscore the importance of integrating mental health assessment into routine dermatologic care for AD patients to improve comprehensive disease management. Full article
(This article belongs to the Section Dermatology)
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5 pages, 1163 KB  
Abstract
Raman Spectroscopy Diagnosis of Melanoma
by Gianmarco Lazzini, Daniela Massi, Davide Moroni, Ovidio Salvetti, Paolo Viacava, Marco Laurino and Mario D’Acunto
Proceedings 2025, 129(1), 10; https://doi.org/10.3390/proceedings2025129010 - 12 Sep 2025
Viewed by 1650
Abstract
Cutaneous melanoma is an aggressive form of skin cancer and a leading cause of cancer-related mortality. In this sense, Raman Spectroscopy (RS) could represent a fast and effective method for melanoma-related diagnosis. We therefore introduced a new method based on RS to distinguish [...] Read more.
Cutaneous melanoma is an aggressive form of skin cancer and a leading cause of cancer-related mortality. In this sense, Raman Spectroscopy (RS) could represent a fast and effective method for melanoma-related diagnosis. We therefore introduced a new method based on RS to distinguish Compound Naevi (CN) from Primary Cutaneous Melanoma (PCM) from ex vivo solid biopsies. To this aim, integrating Confocal Raman Micro-Spectroscopy (CRM) with four Machine Learning (ML) algorithms: Linear Discriminant Analysis (LDA), Quadratic Discriminant Analysis (QDA), Support Vector Machine (SVM), and Random Forest Classifier (RFC). We focused our attention on the comparison between traditional pre-processing operations with Continuous Wavelet Transform (CWT). In particular, CWT led to the maximum classification accuracy, which was ∼89.0%, which highlighted the method as promising in view of future implementations in devices for everyday use. Full article
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25 pages, 1300 KB  
Article
Primary Cutaneous Melanoma—Management in 2024
by Anthony Joseph Dixon, Michael Sladden, Christos C. Zouboulis, Catalin M. Popescu, Alexander Nirenberg, Howard K. Steinman, Caterina Longo, Zoe Lee Dixon and Joseph Meirion Thomas
J. Clin. Med. 2024, 13(6), 1607; https://doi.org/10.3390/jcm13061607 - 11 Mar 2024
Cited by 22 | Viewed by 13897
Abstract
Background: Maximizing survival for patients with primary cutaneous melanomas (melanomas) depends on an early diagnosis and appropriate management. Several new drugs have been shown to improve survival in high-risk melanoma patients. Despite well-documented guidelines, many patients do not receive optimal management, particularly [...] Read more.
Background: Maximizing survival for patients with primary cutaneous melanomas (melanomas) depends on an early diagnosis and appropriate management. Several new drugs have been shown to improve survival in high-risk melanoma patients. Despite well-documented guidelines, many patients do not receive optimal management, particularly when considering patient age. Objective: to provide an update on melanoma management from the time of the decision to biopsy a suspicious skin lesion. Methods: We reviewed melanoma-management research published between 2018 and 2023 and identified where such findings impact and update the management of confirmed melanomas. Pubmed, Google Scholar, Ovid and Cochrane Library were used as search tools. Results: We identified 81 publications since 2017 that have changed melanoma management; 11 in 2018, 12 in 2019, 10 in 2020, 12 in 2021, 17 in 2022 and 18 in 2023. Discussion: Delayed or inaccurate diagnosis is more likely to occur when a partial shave or punch biopsy is used to obtain the histopathology. Wherever feasible, a local excision with a narrow margin should be the biopsy method of choice for a suspected melanoma. The Breslow thickness of the melanoma remains the single most important predictor of outcome, followed by patient age and then ulceration. The BAUSSS biomarker, (Breslow thickness, Age, Ulceration, Subtype, Sex and Site) provides a more accurate method of determining mortality risk than older currently employed approaches, including sentinel lymph node biopsy. Patients with metastatic melanomas and/or nodal disease should be considered for adjuvant drug therapy (ADT). Further, high-risk melanoma patients are increasingly considered for ADT, even without disease spread. Invasive melanomas less than 1 mm thick are usually managed with a radial excision margin of 10 mms of normal skin. If the thickness is 1 to 2 mm, select a radial margin of 10 to 20 mm. When the Breslow thickness is over 2 mm, a 20 mm clinical margin is usually undertaken. In situ melanomas are usually managed with a 5 to 10 mm margin or Mohs margin control surgery. Such wide excisions around a given melanoma is the only surgery that can be regarded as therapeutic and required. Patients who have had one melanoma are at increased risk of another melanoma. Ideal ongoing management includes regular lifelong skin checks. Total body photography should be considered if the patient has many naevi, especially when atypical/dysplastic naevi are identified. Targeted approaches to improve occupational or lifestyle exposure to ultraviolet light are important. Management also needs to include the consideration of vitamin D supplementary therapy. Full article
(This article belongs to the Special Issue Skin Cancer: Prevention, Diagnosis and Treatment)
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13 pages, 2585 KB  
Article
Galectin-3 Is a Natural Binding Ligand of MCAM (CD146, MUC18) in Melanoma Cells and Their Interaction Promotes Melanoma Progression
by Yaoyu Pang, Ellen Maxwell, Paulina Sindrewicz-Goral, Andrew Shapanis, Shun Li, Mark Morgan and Lu-Gang Yu
Biomolecules 2022, 12(10), 1451; https://doi.org/10.3390/biom12101451 - 10 Oct 2022
Cited by 16 | Viewed by 5668
Abstract
Melanoma cell adhesion molecule (MCAM, CD146, MUC18) is a heavily glycosylated transmembrane protein and a marker of melanoma metastasis. It is expressed in advanced primary melanoma and metastasis but rarely in benign naevi or normal melanocytes. More and more evidence has shown that [...] Read more.
Melanoma cell adhesion molecule (MCAM, CD146, MUC18) is a heavily glycosylated transmembrane protein and a marker of melanoma metastasis. It is expressed in advanced primary melanoma and metastasis but rarely in benign naevi or normal melanocytes. More and more evidence has shown that activation of the MCAM on cell surface plays a vital role in melanoma progression and metastasis. However, the natural MCAM binding ligand that initiates MCAM activation in melanoma so far remains elusive. This study revealed that galectin-3, a galactoside-binding protein that is commonly overexpressed in many cancers including melanoma, is naturally associated with MCAM on the surface of both skin and uveal melanoma cells. Binding of galectin-3 to MCAM, via O-linked glycans on the MCAM, induces MCAM dimerization and clustering on cell surface and subsequent activation of downstream AKT signalling. This leads to the increases of a number of important steps in melanoma progression of cell proliferation, adhesion, migration, and invasion. Thus, galectin-3 is a natural binding ligand of MCAM in melanoma, and their interaction activates MCAM and promotes MCAM-mediated melanoma progression. Targeting the galectin-3–MCAM interaction may potentially be a useful therapeutic strategy for melanoma treatment. Full article
(This article belongs to the Collection Galectins and Cancer)
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13 pages, 488 KB  
Article
Nationwide Analysis on Intentional Indoor and Outdoor Tanning: Prevalence and Correlates
by Katharina Diehl, Eckhard W. Breitbart, Rüdiger Greinert, Joel Hillhouse, Jerod L. Stapleton and Tatiana Görig
Int. J. Environ. Res. Public Health 2022, 19(19), 12309; https://doi.org/10.3390/ijerph191912309 - 28 Sep 2022
Cited by 9 | Viewed by 3428
Abstract
Outdoor and indoor tanning are considered as risk factors for the development of skin cancer. The aims of this nationwide representative study were to quantify both behaviors in a sample with a wide age range, to identify those showing both behaviors and to [...] Read more.
Outdoor and indoor tanning are considered as risk factors for the development of skin cancer. The aims of this nationwide representative study were to quantify both behaviors in a sample with a wide age range, to identify those showing both behaviors and to explore and compare determinants of both behaviors. We used data from the fifth wave (2019) of the National Cancer Aid Monitoring (NCAM). We surveyed the representative sample including 4000 individuals, aged 16–65 years, living in Germany. Data were collected through telephone interviews. In addition to descriptive statistics, we used logistic regression analyses to identify determinants. The one-year-prevalence of tanning bed use was 7.5%, while 31.9% tanned (very) often intentionally outdoors in at least one situation (weekdays, holidays, and weekends). A total of 3.2% reported both risk behaviors. Regression analyses revealed that tanning bed use is associated with employment, an increased number of naevi, and lack of risk awareness. Intentional outdoor tanning was associated with male sex, younger age, past tobacco use, and low risk awareness of UV radiation. Our findings suggest that only a minority of subjects showed both risk behaviors. This implies that individuals seem to perform either one behavior or the other. In addition, the associated determinants differed between both behaviors, implying that specific preventive measures tailored to address to each tanning behavior are needed. Full article
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12 pages, 1135 KB  
Article
Genome-Wide Association Study Suggests the Variant rs7551288*A within the DHCR24 Gene Is Associated with Poor Overall Survival in Melanoma Patients
by Annette Pflugfelder, Xuan Ling Hilary Yong, Kasturee Jagirdar, Thomas K. Eigentler, H. Peter Soyer, Richard A. Sturm, Lukas Flatz and David L. Duffy
Cancers 2022, 14(10), 2410; https://doi.org/10.3390/cancers14102410 - 13 May 2022
Cited by 4 | Viewed by 3440
Abstract
Melanoma incidence rates are high among individuals with fair skin and multiple naevi. Established prognostic factors are tumour specific, and less is known about prognostic host factors. A total of 556 stage I to stage IV melanoma patients from Germany with phenotypic and [...] Read more.
Melanoma incidence rates are high among individuals with fair skin and multiple naevi. Established prognostic factors are tumour specific, and less is known about prognostic host factors. A total of 556 stage I to stage IV melanoma patients from Germany with phenotypic and disease-specific data were analysed; 64 of these patients died of melanoma after a median follow-up time of 8 years. Germline DNA was assessed by the HumanCoreExome BeadChip and data of 356,384 common polymorphisms distributed over all 23 chromosomes were used for a genome-wide analysis. A suggestive genome-wide significant association of the intronic allele rs7551288*A with diminished melanoma-specific survival was detected (p = 2 × 10−6). The frequency of rs7551288*A was 0.43 and was not associated with melanoma risk, hair and eye colour, tanning and total naevus count. Cox regression multivariate analyses revealed a 5.31-fold increased risk of melanoma-specific death for patients with the rs7551288 A/A genotype, independent of tumour thickness, ulceration and stage of disease at diagnoses. The variant rs7551288 belongs to the DHCR24 gene, which encodes Seladin-1, an enzyme involved in the biosynthesis of cholesterol. Further investigations are needed to confirm this genetic variant as a novel prognostic biomarker and to explore whether specific treatment strategies for melanoma patients might be derived from it. Full article
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8 pages, 1658 KB  
Case Report
A Case of Non-Irradiated Balloon Cell Melanoma of the Choroid: Expanding the Morphological Spectrum of Primary Uveal Melanomas
by Maria Failla, Rosario Caltabiano, Antonio Longo, Andrea Russo, Michele Reibaldi, Teresio Avitabile, Eliana Piombino, Cristina Colarossi, Lorenzo Colarossi, Elena Tirrò, Paolo Vigneri, Pietro Valerio Foti and Giuseppe Broggi
Diagnostics 2022, 12(3), 642; https://doi.org/10.3390/diagnostics12030642 - 5 Mar 2022
Cited by 2 | Viewed by 2623
Abstract
Uveal melanoma (UM) is the most common primary intraocular tumor in adults and usually has a very poor prognosis. Histologically, UMs have been classified in epithelioid cell type, spindle cell type, and mixed cell type. Balloon cells are large pale cells that contain [...] Read more.
Uveal melanoma (UM) is the most common primary intraocular tumor in adults and usually has a very poor prognosis. Histologically, UMs have been classified in epithelioid cell type, spindle cell type, and mixed cell type. Balloon cells are large pale cells that contain small, hyperchromatic, central nuclei with vesiculated, clear, and lipid-rich cytoplasm. A balloon cell morphology is infrequently observed in naevi and even less frequently in malignant melanomas of the skin, conjunctiva, ciliary body and choroid. In this regard, UMs that exhibit balloon cell features are generally those previously treated with proton beam irradiation and then enucleated, rather than those that directly underwent primary surgery. To the best of our knowledge, very few cases of primary UM showing extensive balloon cell morphology have been reported in scientific literature to date. We herein present an unusual case of primary UM with diffuse balloon cell changes in a 69-year-old woman. Full article
(This article belongs to the Special Issue Eye Diseases: Diagnosis and Management)
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17 pages, 16862 KB  
Article
Cutaneous Malignancies in Tattoos, a Case Series of Six Patients
by Marike Leijs, Hannah Schaefer, Albert Rübben, Claudio Cacchi, Thomas Rustemeyer and Sebastiaan van der Bent
Curr. Oncol. 2021, 28(6), 4721-4737; https://doi.org/10.3390/curroncol28060398 - 15 Nov 2021
Cited by 24 | Viewed by 14008
Abstract
Background: A variety of side effects following the tattooing of the skin were reported over the years. Analytical studies showed that some tattoo inks contain harmful compounds. Methods: We presented six patient cases with cutaneous malignancies in tattooed skin and performed an extensive [...] Read more.
Background: A variety of side effects following the tattooing of the skin were reported over the years. Analytical studies showed that some tattoo inks contain harmful compounds. Methods: We presented six patient cases with cutaneous malignancies in tattooed skin and performed an extensive literature research. Results: Two patients with black ink tattoos that were diagnosed with malignant melanoma raises the number of described cases to 36 patients. One of the patients developed an immunologic reaction limited to the tattoo area after treatment with a targeted immune therapy. In the other patient, the malignancy (malignant melanoma) was fatal. Basal cell carcinoma was seen in four patients with tattoos containing varying ink colors (black, green, red). This increased the number of described patient cases to 18. Although some ink components and their cleavage products have carcinogenic properties, epidemiological evidence for a causative correlation fails. Further epidemiologic studies on tattoos and malignancies, as well as on the appearance of naevi in tattoos, are necessary. Determining the type of mutation might be helpful to separate sun-induced tumors from skin cancers due to other pathogenic mechanisms. Full article
(This article belongs to the Section Dermato-Oncology)
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15 pages, 2586 KB  
Article
SOX11, SOX10 and MITF Gene Interaction: A Possible Diagnostic Tool in Malignant Melanoma
by Marius-Alexandru Beleaua, Ioan Jung, Cornelia Braicu, Doina Milutin and Simona Gurzu
Life 2021, 11(4), 281; https://doi.org/10.3390/life11040281 - 27 Mar 2021
Cited by 16 | Viewed by 5064
Abstract
Malignant melanoma (MM) is a highly heterogenic tumor whose histological diagnosis might be difficult. This study aimed to investigate the diagnostic and prognostic utility of the conventional pan-melanoma cocktail members (HMB-45, melan-A and tyrosinase), in conjunction with SOX10 and SOX11 immunohistochemical (IHC) expression. [...] Read more.
Malignant melanoma (MM) is a highly heterogenic tumor whose histological diagnosis might be difficult. This study aimed to investigate the diagnostic and prognostic utility of the conventional pan-melanoma cocktail members (HMB-45, melan-A and tyrosinase), in conjunction with SOX10 and SOX11 immunohistochemical (IHC) expression. In 105 consecutive cases of MMs and 44 of naevi, the IHC examination was performed using the five-abovementioned markers, along with microphthalmia transcription factor (MITF), S100, and Ki67. Correlation with the clinicopathological factors and a long-term follow-up was also done. Survival analysis was performed with Kaplan–Meier curves and compared with TCGA public datasets. None of the 44 naevi expressed SOX11, but its positivity was seen in 52 MMs (49.52%), being directly correlated with lymphovascular invasion, the Ki67 index, and SOX10 expression. HMB-45, SOX10, and tyrosinase, but not melan-A, proved to differentiate the naevi from MMs successfully, with high specificity. Triple MITF/SOX10/SOX11 co-expression was seen in 9 out of 15 negative conventional pan-melanoma-cocktail cases. The independent prognostic value was proved for the conventional pan-melanoma cocktail (triple positivity for HMB-45, melan-A, and tyrosinase) and, independently for HMB-45 and tyrosinase, but not for melan-A, SOX10, or SOX11. As consequence, to differentiate MMs from benign naevi, melan-A should be substituted by SOX10 in the conventional cocktail. Although the conventional pan-melanoma cocktail, along with S100 can be used for the identification of melanocytic origin of tumor cells and predicting prognosis of MMs, the conventional-adapted cocktail (triple positivity for HMB-45, SOX10, and tyrosinase) has a slightly higher diagnostic specificity. SOX11 can be added to identify the aggressive MMs with risk for lymphatic dissemination and the presence of circulating tumor cells. Full article
(This article belongs to the Special Issue Serum and Tissue Biomarkers in Cancer: A Translational Approach)
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14 pages, 899 KB  
Article
Detecting Progression of Melanocytic Choroidal Tumors by Sequential Imaging: Is Ultrasonography Necessary?
by Kelsey A. Roelofs, Roderick O’Day, Lamis Al Harby, Gordon Hay, Amit K. Arora, Victoria M. L. Cohen, Mandeep S. Sagoo and Bertil E. Damato
Cancers 2020, 12(7), 1856; https://doi.org/10.3390/cancers12071856 - 10 Jul 2020
Cited by 22 | Viewed by 3485
Abstract
Purpose: To determine if ultrasonography is necessary to detect progression of choroidal melanocytic tumors undergoing sequential multi-modal imaging with color photography, autofluorescence (AF) and optical coherence tomography (OCT). Methods: All patients with choroidal melanoma undergoing treatment at Moorfields Eye Hospital between January 2016 [...] Read more.
Purpose: To determine if ultrasonography is necessary to detect progression of choroidal melanocytic tumors undergoing sequential multi-modal imaging with color photography, autofluorescence (AF) and optical coherence tomography (OCT). Methods: All patients with choroidal melanoma undergoing treatment at Moorfields Eye Hospital between January 2016 and March 2020 were reviewed to identify those with treatment deferred by ≥2 months. Tumors that showed progression prior to treatment, defined as an increase in (a) basal dimensions (b) thickness (c) orange pigment and/or (d) sub-retinal fluid, were included. Mushroom shape, Orange pigment, Large size, Enlargement and Sub-retinal fluid (MOLES) scores were assigned to all tumors at earliest date and date of treatment. Results: A total of 99 patients with a mean age of 66 years (range: 26–90) were included. The initial MOLES score was 1 in 2 cases, 2 in 23 cases, and ≥3 in 74 cases. Progression was detected with sequential color photography alone in 100% of MOLES 1/2 and 97% of lesions with a MOLES score of ≥3. When findings on AF and OCT were included, sensitivity for detecting subtle change without ultrasonography improved to 100% for MOLES 3 and 97% for MOLES 4/5. Only one patient included in this study had an isolated increase in thickness that may have been missed had sequential ultrasonography not been performed. Overall, the sensitivity for detecting progression with color photographs alone was 97% (95% CI 93–100%) and increased to 99% (95% CI 97–100%) by including autofluorescence and OCT. Conclusions: Monitoring of choroidal nevi, particularly those classified as MOLES 1 or 2 (i.e., low-risk or high-risk naevi), can be accomplished safely without the need for ultrasonography. The findings of this study may remove barriers to the implementation of tele-oncology clinics for the monitoring of choroidal melanocytic tumors. Full article
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9 pages, 751 KB  
Case Report
Multiple Sclerosis Treatment and Melanoma Development
by Maria Luigia Carbone, Pedro Miguel Lacal, Serena Messinese, Laura De Giglio, Carlo Pozzilli, Severino Persechino, Cinzia Mazzanti, Cristina Maria Failla and Gianluca Pagnanelli
Int. J. Mol. Sci. 2020, 21(8), 2950; https://doi.org/10.3390/ijms21082950 - 22 Apr 2020
Cited by 24 | Viewed by 5078
Abstract
Therapy of multiple sclerosis (MS) with disease-modifying agents such as natalizumab or fingolimod has been associated with the development of cutaneous melanoma. Here we briefly revise literature data and report of a case of a 48-year old woman who developed a melanoma and [...] Read more.
Therapy of multiple sclerosis (MS) with disease-modifying agents such as natalizumab or fingolimod has been associated with the development of cutaneous melanoma. Here we briefly revise literature data and report of a case of a 48-year old woman who developed a melanoma and several atypical naevi after sub sequential treatment with natalizumab (1 year) and fingolimod (7 years). By immunohistochemistry we observed the presence of T cells and leukocyte infiltration as well as of vascular endothelial growth factor (VEGF)-A expression in the patient melanoma biopsy. Then, we analyzed proliferation, migration and VEGF-A expression in three melanoma cell lines and found out that both natalizumab and fingolimod inhibited tumor cell proliferation but promoted or blocked cell migration depending on the cell line examined. VEGF-A secretion was augmented in one melanoma cell line only after fingolimod treatment. In conclusion, our in vitro data do not support the hypothesis of a direct action of natalizumab or fingolimod on melanoma progression but acting on the tumor microenvironment these treatments could indirectly favor melanoma evolution. Full article
(This article belongs to the Special Issue Skin Cancer: From Pathophysiology to Novel Therapeutic Approaches)
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11 pages, 959 KB  
Article
Frequent Occurrence of NRAS and BRAF Mutations in Human Acral Naevi
by Philipp Jansen, Ioana Cosgarea, Rajmohan Murali, Inga Möller, Antje Sucker, Cindy Franklin, Annette Paschen, Anne Zaremba, Titus J. Brinker, Ingo Stoffels, Dirk Schadendorf, Joachim Klode, Eva Hadaschik and Klaus G. Griewank
Cancers 2019, 11(4), 546; https://doi.org/10.3390/cancers11040546 - 16 Apr 2019
Cited by 13 | Viewed by 6001
Abstract
Acral naevi are benign melanocytic tumors occurring at acral sites. Occasionally they can progress to become malignant tumors (melanomas). The genetics of acral naevi have not been assessed in larger studies. In our study, a large cohort of 130 acral naevi was screened [...] Read more.
Acral naevi are benign melanocytic tumors occurring at acral sites. Occasionally they can progress to become malignant tumors (melanomas). The genetics of acral naevi have not been assessed in larger studies. In our study, a large cohort of 130 acral naevi was screened for gene mutations known to be important in other naevi and melanoma subtypes by targeted next-generation sequencing. Mutation status was correlated with clinicopathological parameters. Frequent mutations in genes activating the MAP kinase pathway were identified, including n = 87 (67%) BRAF, n = 24 (18%) NRAS, and one (1%) MAP2K1 mutations. BRAF mutations were almost exclusively V600E (n = 86, 99%) and primarily found in junctional and compound naevi. NRAS mutations were either Q61K or Q61R and frequently identified in dermal naevi. Recurrent non-V600E BRAF, KIT, NF1, and TERT promoter mutations, present in acral melanoma, were not identified. Our study identifies BRAF and NRAS mutations as the primary pathogenic event in acral naevi, however, distributed differently to those in non-acral naevi. The mutational profile of acral naevi is distinct from acral melanoma, which may be of diagnostic value in distinguishing these entities. Full article
(This article belongs to the Special Issue Application of Next-Generation Sequencing in Cancers)
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