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Diagnostics
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Latest Advances in Diagnosis and Management of Skin Cancer
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Latest Advances in Diagnosis and Management of Skin Cancer

A special issue of Diagnostics (ISSN 2075-4418). This special issue belongs to the section "Pathology and Molecular Diagnostics".

Deadline for manuscript submissions: 30 April 2025 | Viewed by 8869

Special Issue Editor

Dr. Choon Chiat Oh

E-Mail Website
Guest Editor
Department of Dermatology, Singapore General Hospital, Singapore 169608, Singapore
Interests: melanoma; skin cancer; dermatology
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Skin cancer incidence is on the rise worldwide, highlighting the importance of this condition as a public health concern. Over the past decade, technological advancements have allowed for more accurate and earlier skin cancer diagnoses. Many novel therapeutics have also been introduced to treat or manage rare and advanced skin cancers.

We invite researchers, clinicians and experts in the field to contribute to this Special Issue focusing on the latest advances in the diagnosis and management of skin cancer (melanocytic tumors, keratinocyte tumors, soft tissue tumors, sarcomas, lymphomas, etc.). Papers discussing advances in diagnostic tools for skin cancer detection via immunohistochemistry, molecular techniques, novel biomarkers, imaging tools (e.g., high-frequency ultrasound line-field confocal optical coherence tomography), machine learning (e.g., artificial intelligence) and genetic analysis, among other tools, are encouraged for submission. In line with the drive toward precision medicine, we also encourage article submissions on new or novel targeted therapies for skin cancers (e.g., newly discovered targets, new surgical techniques, new delivery systems, novel devices, etc.). Management strategies for palliation of advanced skin cancers are also welcomed.

Notably, this Special Issue invites authors to contribute original articles (personal experience applied to the diagnosis of specific pathologic conditions), reviews (a summary to clarify the state of the art of a specific topic) and technical articles (elements for the adoption of these techniques).

We encourage the submission of papers that cover a wide range of topics, including, but not limited to, advances in technologies for skin cancer detection, as well as new/novel therapeutics for skin cancer management. Original research articles, reviews and case studies are welcomed.

Join us in this Special Issue to advance our knowledge and contribute to the development of improved diagnostic approaches and the management of skin cancer. Submissions should adhere to the journal's guidelines and will undergo a rigorous peer review process.

Dr. Choon Chiat Oh
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Diagnostics is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • skin cancers
  • diagnosis
  • artificial intelligence
  • biomarkers
  • targeted therapies
  • melanoma
  • lymphoma
  • surgery
  • topical therapy
  • imaging
 

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Published Papers (7 papers)

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12 pages, 2739 KiB  
Article
PRAME Immunohistochemistry in Thin Melanomas Compared to Melanocytic Nevi
by Iulia Zboraș, Loredana Ungureanu, Simona Șenilă, Bobe Petrushev, Paula Zamfir, Doinița Crișan, Flaviu Andrei Zaharie, Ștefan Cristian Vesa and Rodica Cosgarea
Diagnostics 2024, 14(18), 2015; https://doi.org/10.3390/diagnostics14182015 - 12 Sep 2024
Cited by 1 | Viewed by 558
Abstract
PRAME (PReferentially expressed Antigen in Melanoma) immunohistochemistry has proven helpful in distinguishing malignant from benign melanocytic tumors. We studied PRAME IHC expression in 46 thin melanomas and 39 melanocytic nevi, mostly dysplastic nevi. Twenty-six percent (26.09%) of the melanomas showed diffuse PRAME staining [...] Read more.
PRAME (PReferentially expressed Antigen in Melanoma) immunohistochemistry has proven helpful in distinguishing malignant from benign melanocytic tumors. We studied PRAME IHC expression in 46 thin melanomas and 39 melanocytic nevi, mostly dysplastic nevi. Twenty-six percent (26.09%) of the melanomas showed diffuse PRAME staining in over 76% of the tumor cells (4+), and 34.78% of the melanomas showed PRAME expression in over 51% of the tumor cells (3+ or 4+), while 8% were entirely negative for PRAME. No melanocytic nevi were PRAME 4+ or 3+. More than half of the nevi (64%) were entirely negative for PRAME staining, and 36% of the nevi showed staining expression in 1–25% (1+) or 26–50% of the cells (2+). No nevi were stained with a color intensity of 3, while 16.67% of the melanomas were stained with this color intensity. Most nevi (78.57%) were stained with an intensity of 1. With a lower positivity threshold, sensitivity increases with still reasonable specificity. The best accuracy was obtained for the 2+ positivity threshold. In conclusion, PRAME staining helps distinguish thin melanomas from dysplastic nevi. However, the threshold of positivity should be lowered in order not to miss thin melanomas. Full article
(This article belongs to the Special Issue Latest Advances in Diagnosis and Management of Skin Cancer)
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11 pages, 468 KiB  
Article
Cutaneous Adverse Reactions and Survival Outcomes of Advanced Melanoma Treated with Immune Checkpoint Inhibitors in an Academic Medical Centre in Singapore
by Agnes Yeok-Loo Lim, Jason Yongsheng Chan and Choon Chiat Oh
Diagnostics 2024, 14(15), 1601; https://doi.org/10.3390/diagnostics14151601 - 25 Jul 2024
Viewed by 674
Abstract
Programmed cell death-1 (PD1) inhibitors, a form of immune checkpoint inhibitor, are efficacious for metastatic melanoma but are associated with cutaneous adverse reactions (CARs). Studies in Europe and North America showed that CARs are associated with an increased overall survival. However, studies from [...] Read more.
Programmed cell death-1 (PD1) inhibitors, a form of immune checkpoint inhibitor, are efficacious for metastatic melanoma but are associated with cutaneous adverse reactions (CARs). Studies in Europe and North America showed that CARs are associated with an increased overall survival. However, studies from Asia showed mixed results. There is a paucity of data regarding the efficacy of PD1 inhibitors and the effect of CARs on overall survival from Southeast Asia. A retrospective study of patients in the National Cancer Centre Singapore who were diagnosed with melanoma between 2015 and 2020 was conducted. Patients were included in the study if they had stage IV melanoma (advanced melanoma). Sixty-two patients were included in the study. The median age was 62.5 years and acral melanoma was the commonest subtype. Forty-three patients received PD1 inhibitors. Comparing patients who did not receive PD1 inhibitors to patients who received PD1 inhibitors, the former had a median overall survival of 6 months (95% CI: 5.07, 6.93), whereas the latter had a median overall survival of 21 months (95% CI: 13.33, 28.67; p < 0.001) (Hazard ratio 0.32; 95% CI: 0.16, 0.63; p = 0.001). Amongst patients who received PD1 inhibitors, patients who developed CARs had a greater median overall survival of 33 months (95% CI: 17.27, 48.73) compared to 15 months (95% CI: 9.20, 20.80; p = 0.013) for patients who did not (HR 0.29; 95% CI: 0.098, 0.834; p = 0.022). This study provides insight into the outcomes of metastatic melanoma in Singapore, and adds to the body of evidence supporting the use of PD1 inhibitors in Asians. Full article
(This article belongs to the Special Issue Latest Advances in Diagnosis and Management of Skin Cancer)
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26 pages, 6804 KiB  
Article
Advancing Dermatological Diagnostics: Interpretable AI for Enhanced Skin Lesion Classification
by Carlo Metta, Andrea Beretta, Riccardo Guidotti, Yuan Yin, Patrick Gallinari, Salvatore Rinzivillo and Fosca Giannotti
Diagnostics 2024, 14(7), 753; https://doi.org/10.3390/diagnostics14070753 - 2 Apr 2024
Cited by 2 | Viewed by 1692
Abstract
A crucial challenge in critical settings like medical diagnosis is making deep learning models used in decision-making systems interpretable. Efforts in Explainable Artificial Intelligence (XAI) are underway to address this challenge. Yet, many XAI methods are evaluated on broad classifiers and fail to [...] Read more.
A crucial challenge in critical settings like medical diagnosis is making deep learning models used in decision-making systems interpretable. Efforts in Explainable Artificial Intelligence (XAI) are underway to address this challenge. Yet, many XAI methods are evaluated on broad classifiers and fail to address complex, real-world issues, such as medical diagnosis. In our study, we focus on enhancing user trust and confidence in automated AI decision-making systems, particularly for diagnosing skin lesions, by tailoring an XAI method to explain an AI model’s ability to identify various skin lesion types. We generate explanations using synthetic images of skin lesions as examples and counterexamples, offering a method for practitioners to pinpoint the critical features influencing the classification outcome. A validation survey involving domain experts, novices, and laypersons has demonstrated that explanations increase trust and confidence in the automated decision system. Furthermore, our exploration of the model’s latent space reveals clear separations among the most common skin lesion classes, a distinction that likely arises from the unique characteristics of each class and could assist in correcting frequent misdiagnoses by human professionals. Full article
(This article belongs to the Special Issue Latest Advances in Diagnosis and Management of Skin Cancer)
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13 pages, 2698 KiB  
Article
Advancing Differentiation of Hepatic Metastases in Malignant Melanoma through Dual-Energy Computed Tomography Rho/Z Maps
by Ibrahim Yel, Vitali Koch, Leon D. Gruenewald, Scherwin Mahmoudi, Leona S. Alizadeh, Aynur Goekduman, Katrin Eichler, Thomas J. Vogl, Mirela Dimitrova and Christian Booz
Diagnostics 2024, 14(7), 742; https://doi.org/10.3390/diagnostics14070742 - 30 Mar 2024
Viewed by 1237
Abstract
Objectives: The aim of this study is to evaluate the diagnostic accuracy of dual-energy computed tomography (DECT)-based Rho/Z maps in differentiating between metastases and benign liver lesions in patients diagnosed with malignant melanoma compared to conventional CT value measurements. Methods: This retrospective study [...] Read more.
Objectives: The aim of this study is to evaluate the diagnostic accuracy of dual-energy computed tomography (DECT)-based Rho/Z maps in differentiating between metastases and benign liver lesions in patients diagnosed with malignant melanoma compared to conventional CT value measurements. Methods: This retrospective study included 73 patients (mean age, 70 ± 13 years; 43 m/30 w) suffering from malignant melanoma who had undergone third-generation DECT as part of tumor staging between December 2017 and December 2021. For this study, we measured Rho (electron density) and Z (effective atomic number) values as well as Hounsfield units (HUs) in hypodense liver lesions. Values were compared, and diagnostic accuracy for differentiation was computed using receiver operating characteristic (ROC) curve analyses. Additional performed MRI or biopsies served as a standard of reference. Results: A total of 136 lesions (51 metastases, 71 cysts, and 14 hemangiomas) in contrast-enhanced DECT images were evaluated. The most notable discrepancy (p < 0.001) between measured values and the highest diagnostic accuracy for distinguishing melanoma metastases from benign cysts was observed for the Z (0.992; 95% CI, 0.956–1) parameters, followed by Rho (0.908; 95% CI, 0.842–0.953) and finally HU120kV (0.829; 95% CI, 0.751–0.891). Conversely, when discriminating between liver metastases and hemangiomas, the HU120kV parameters showed the most significant difference (p < 0.001) and yielded the highest values for diagnostic accuracy (0.859; 95% CI, 0.740–0.937), followed by the Z parameters (0.790; 95% CI, 0.681–0.876) and finally the Rho values (0.621; 95% CI, 0.501–0.730). Conclusions: Rho and Z measurements derived from DECT allow for improved differentiation of liver metastases and benign liver cysts in patients with malignant melanoma compared to conventional CT value measurements. In contrast, in differentiation between liver hemangiomas and metastases, Rho/Z maps show inferior diagnostic accuracy. Therefore, differentiation between these two lesions remains a challenge for CT imaging. Full article
(This article belongs to the Special Issue Latest Advances in Diagnosis and Management of Skin Cancer)
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17 pages, 1138 KiB  
Article
A European Multicentric Investigation of Atypical Melanocytic Skin Lesions of Palms and Soles: The iDScore-PalmoPlantar Database
by Linda Tognetti, Alessandra Cartocci, Aimilios Lallas, Elvira Moscarella, Ignazio Stanganelli, Gianluca Nazzaro, John Paoli, Maria Concetta Fargnoli, Paolo Broganelli, Harald Kittler, Jean-Luc Perrot, Gennaro Cataldo, Gabriele Cevenini, Sofia Lo Conte, Leonardelli Simone, Elisa Cinotti and Pietro Rubegni
Diagnostics 2024, 14(5), 460; https://doi.org/10.3390/diagnostics14050460 - 20 Feb 2024
Cited by 1 | Viewed by 1594
Abstract
Background: The differential diagnosis of atypical melanocytic palmoplantar skin lesions (aMPLs) represents a diagnostic challenge, including atypical nevi (AN) and early melanomas (MMs) that display overlapping clinical and dermoscopic features. We aimed to set up a multicentric dataset of aMPL dermoscopic cases paired [...] Read more.
Background: The differential diagnosis of atypical melanocytic palmoplantar skin lesions (aMPLs) represents a diagnostic challenge, including atypical nevi (AN) and early melanomas (MMs) that display overlapping clinical and dermoscopic features. We aimed to set up a multicentric dataset of aMPL dermoscopic cases paired with multiple anamnestic risk factors and demographic and morphologic data. Methods: Each aMPL case was paired with a dermoscopic and clinical picture and a series of lesion-related data (maximum diameter value; location on the palm/sole in 17 areas; histologic diagnosis; and patient-related data (age, sex, family history of melanoma/sunburns, phototype, pheomelanin, eye/hair color, multiple/dysplastic body nevi, and traumatism on palms/soles). Results: A total of 542 aMPL cases—113 MM and 429 AN—were collected from 195 males and 347 females. No sex prevalence was found for melanomas, while women were found to have relatively more nevi. Melanomas were prevalent on the heel, plantar arch, and fingers in patients aged 65.3 on average, with an average diameter of 17 mm. Atypical nevi were prevalent on the plantar arch and palmar area of patients aged 41.33 on average, with an average diameter of 7 mm. Conclusions: Keeping in mind the risk profile of an aMPL patient can help obtain a timely differentiation between malignant/benign cases, thus avoiding delayed and inappropriate excision, respectively, with the latter often causing discomfort/dysfunctional scarring, especially at acral sites. Full article
(This article belongs to the Special Issue Latest Advances in Diagnosis and Management of Skin Cancer)
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15 pages, 23360 KiB  
Case Report
Metastatic Nodular Melanoma with Angiosarcomatous Transdifferentiation—A Case Report and Review of the Literature
by Adrian Vasile Dumitru, Dana Antonia Țăpoi, Mariana Costache, Ana Maria Ciongariu, Andreea Iuliana Ionescu, Horia Dan Liscu, Catalin Alius, Mircea Tampa, Andrei Marin and Andreea Roxana Furtunescu
Diagnostics 2024, 14(13), 1323; https://doi.org/10.3390/diagnostics14131323 - 21 Jun 2024
Cited by 2 | Viewed by 1138
Abstract
Diagnosing cutaneous melanomas relies mainly on histopathological analysis, which, in selected cases, can be aided by immunohistochemical evaluation of conventional melanocytic markers. Nevertheless, these malignancies, particularly in metastatic settings, may display divergent differentiation with unusual histological and immunohistochemical features. In this context, we [...] Read more.
Diagnosing cutaneous melanomas relies mainly on histopathological analysis, which, in selected cases, can be aided by immunohistochemical evaluation of conventional melanocytic markers. Nevertheless, these malignancies, particularly in metastatic settings, may display divergent differentiation with unusual histological and immunohistochemical features. In this context, we present the case of a 65-year-old male diagnosed with typical superficial spreading melanoma who developed recurrence and metastatic lesions featuring angiosarcomatous differentiation. The diagnosis of the initial tumour and the subsequently dedifferentiated lesions was confirmed by ample immunohistochemical analysis, which included several melanocytic markers, as well as mesenchymal and vascular markers. The recurrent tumour and lymph nodes metastases were completely negative for Melan-A and PRAME, and focally positive for SOX10. Additionally, they also displayed diffuse, intense positivity for CD10 and WT1 and focal positivity for CD99, ERB, and CD31. Thus, the diagnosis of primary cutaneous melanoma with recurrent and metastatic divergent angiosarcomatous differentiation was established. This occurrence is particularly rare and can pose important diagnostic challenges. Therefore, in addition to presenting this highly unusual case, we also performed a comprehensive review of the literature on divergent differentiation in melanomas. Full article
(This article belongs to the Special Issue Latest Advances in Diagnosis and Management of Skin Cancer)
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12 pages, 894 KiB  
Systematic Review
T Cell Immunity in Human Papillomavirus-Related Cutaneous Squamous Cell Carcinoma—A Systematic Review
by Shi Huan Tay and Choon Chiat Oh
Diagnostics 2024, 14(5), 473; https://doi.org/10.3390/diagnostics14050473 - 21 Feb 2024
Viewed by 1243
Abstract
Cutaneous squamous cell carcinoma (cSCC) is an invasive malignancy that disproportionately afflicts immunosuppressed individuals. The close associations of cSCC with immunosuppression and human papillomavirus (HPV) infection beget the question of how these three entities are intertwined in carcinogenesis. By exploring the role of [...] Read more.
Cutaneous squamous cell carcinoma (cSCC) is an invasive malignancy that disproportionately afflicts immunosuppressed individuals. The close associations of cSCC with immunosuppression and human papillomavirus (HPV) infection beget the question of how these three entities are intertwined in carcinogenesis. By exploring the role of T cell immunity in HPV-related cSCC based on the existing literature, we found that the loss of T cell immunity in the background of β-HPV infection promotes cSCC initiation following exposure to environmental carcinogens or chronic trauma. This highlights the potential of developing T-cell centred therapeutic and preventive strategies for populations with increased cSCC risk. Full article
(This article belongs to the Special Issue Latest Advances in Diagnosis and Management of Skin Cancer)
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