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Clinico-Pathological, Dermoscopic and Genetic Analyses in Melanoma: Different Diagnostic Processes...
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Clinico-Pathological, Dermoscopic and Genetic Analyses in Melanoma: Different Diagnostic Processes for an Early and Accurate Detection of Melanoma

A special issue of Cancers (ISSN 2072-6694). This special issue belongs to the section "Cancer Pathophysiology".

Deadline for manuscript submissions: closed (25 September 2023) | Viewed by 4824

Special Issue Editors

Prof. Dr. Santo Raffaele Mercuri

E-Mail Website
Guest Editor
Unit of Dermatology, IRCCS San Raffaele Hospital, 20132 Milan, Italy
Interests: dermatologic treatments; dermatologic surgery; laser treatments; regenerative medicine; skin cancers; surgery; dermoscopy; clinical diagnosis
Special Issues, Collections and Topics in MDPI journals
Dr. Giovanni Paolino

E-Mail Website
Guest Editor
Unit of Dermatology, IRCCS San Raffaele Hospital, 20132 Milan, Italy
Interests: dermoscopy; dermatopathology; melanoma; dermatologic oncology; immunology; genetics
Special Issues, Collections and Topics in MDPI journals
Dr. Matteo Riccardo Di Nicola

E-Mail Website
Guest Editor
Unit of Dermatology, IRCCS San Raffaele Hospital, 20132 Milan, Italy
Interests: reptiles; amphibians; herpetology; snakes; Italian wildlife
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

In the early stages, melanoma can be treated with surgery, with a good survival rate. However, in case of metastasis, the average survival of patients is reduced. In this regard, late diagnosis or misdiagnosis as well as specific genetic mutational states of melanomas can lead to a reduction of survival in melanoma patients. Indeed, considering that melanoma misdiagnosis accounts for more pathology and dermatology malpractice claims than any cancer other than breast cancer, an early misdiagnosis can significantly reduce a patient’s chances of survival. Therefore, greater effort in this area of research is always necessary.

The aim of this Special Issue is to increase the diagnostic accuracy of melanoma, highlighting the main clinical, dermoscopic, histopathological and genetic aspects of melanomas. These diagnostic procedures, both individually and in combination, can lead to an early diagnosis of melanoma, improving the diagnostic specificity and in this way allowing more and more targeted therapies, increasing patient survival.

In this Special Issue, original articles, reviews and case series about clinico-pathological, dermoscopic and genetic analyses in melanoma are welcomed The fields of interest are dermoscopy, reflectance confocal microscopy, histopathology and genetics. We will accept studies showing meaningful but negative results.

We look forward to receiving your contributions. 

Prof. Dr. Santo Raffaele Mercuri
Dr. Giovanni Paolino
Dr. Matteo Riccardo Di Nicola
Guest Editors

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. Cancers 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 2900 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

  • melanoma
  • dermoscopy
  • pathology
  • genetics
  • early diagnosis
  • targeted therapy
  • patient survival

Published Papers (2 papers)

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15 pages, 1366 KiB  
Article
Differences in the Clinical and Molecular Profiles of Subungual Melanoma and Acral Melanoma in Asian Patients
by So-Young Ahn, Go-Eun Bae, Seung-Yeol Park and Min-Kyung Yeo
Cancers 2023, 15(17), 4417; https://doi.org/10.3390/cancers15174417 - 04 Sep 2023
Viewed by 848
Abstract
Subungual melanoma (SUM) is a rare type of malignant melanoma that arises beneath the nails. SUM is categorized as a type of acral melanoma (AM), which occurs on the hands and feet. SUM is an aggressive type of cutaneous melanoma that is most [...] Read more.
Subungual melanoma (SUM) is a rare type of malignant melanoma that arises beneath the nails. SUM is categorized as a type of acral melanoma (AM), which occurs on the hands and feet. SUM is an aggressive type of cutaneous melanoma that is most common among Asian patients. Recent studies reveal that SUM and AM might have different molecular characteristics. Treatment of melanoma relies on analysis of both clinical and molecular data. Therefore, the clinical and molecular characteristics of SUM need to be established, especially during metastasis. To define the mutation profiles of SUM and compare them with those of AM, we performed next-generation sequencing of primary and metastatic tumors of SUM and AM patients. Subungual location was a better independent prognostic factor than acral location for better overall survival (p = 0.001). Patients with SUM most commonly had the triple wild-type (75%) driven by GNAQ (58%) and KIT (25%) mutations, whereas patients with AM had BRAF (28.6%) and RAF (14.3%) molecular types of mutations. Single-nucleotide variations (SNVs) were more common in SUM than in AM, whereas copy number alterations (CNAs) were more common metastatic lesions of AM. Metastatic tumors in patients with SUM and AM showed increases in CNAs (43% and 80%, respectively), but not in SNVs. The number of CNAs increased during metastasis. When compared with AM, SUM has distinct clinical and molecular characteristics. Full article
(This article belongs to the Special Issue Clinico-Pathological, Dermoscopic and Genetic Analyses in Melanoma: Different Diagnostic Processes for an Early and Accurate Detection of Melanoma)
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7 pages, 1550 KiB  
Article
Clinicopathological and Dermoscopic Baselines in Patients with Lynch Syndrome
by Giovanni Paolino, Riccardo Pampena, Matteo Riccardo Di Nicola and Santo Raffaele Mercuri
Cancers 2023, 15(1), 114; https://doi.org/10.3390/cancers15010114 - 24 Dec 2022
Viewed by 3558
Abstract
Despite the fact that Lynch Syndrome (LS) patients may also develop extra-colonic malignancies, research evaluating the association between LS and skin cancers is currently very limited. We performed a monocentric clinical and dermoscopic study involving 42 LS patients which referred to the Dermatology [...] Read more.
Despite the fact that Lynch Syndrome (LS) patients may also develop extra-colonic malignancies, research evaluating the association between LS and skin cancers is currently very limited. We performed a monocentric clinical and dermoscopic study involving 42 LS patients which referred to the Dermatology Unit for cutaneous screenings. In total, 22 patients showed a mutation in MLH1 and 17 patients a MSH2 mutation. Out of the entire cohort, 83% of LS patients showed brown hairs and 78% brown eyes, and the most frequent phototypes were III and II (respectively, 71.5% and 21%). A positive medical history for an internal malignancy was present in 36% of patients, with colon cancer as the most frequent malignancy in 60% of cases. A total of 853 cutaneous lesions have been analyzed: 47% of patients showed a total number of nevi > 10. The main observed dermoscopic features were a uniform reticular pattern (77% of patients), a mixed pattern (9% of patients) and a uniform dermal pattern (14% of patients). Eruptive cherry angiomas were present in 24% of cases, eruptive seborrheic keratosis in 26% and viral warts in 7% of cases; basal cell carcinoma was detected in 7% of cases. We have not found specific associations with specific skin manifestations, and the clinical and dermoscopic appearance of the pigmented lesions reflected the features present in the general population. To date, there are currently no guidelines for skin screening in LS patients. According to our study, there is insufficient evidence to ensure increased surveillance in LS patients; further studies with larger samples of patients are needed to better investigate dermatological and dermoscopic features in LS carriers. Full article
(This article belongs to the Special Issue Clinico-Pathological, Dermoscopic and Genetic Analyses in Melanoma: Different Diagnostic Processes for an Early and Accurate Detection of Melanoma)
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