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Cancers
Special Issues
Precision Oncology for Rare Skin Cancers
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Precision Oncology for Rare Skin Cancers

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

Deadline for manuscript submissions: 31 December 2025 | Viewed by 1683

Special Issue Editors

Dr. Gino K. In

E-Mail Website
Guest Editor
USC Norris Comprehensive Cancer Center, Los Angeles, CA, USA
Interests: melanoma; cutaneous squamous cell carcinoma; merkel cell carcinoma; basal cell carcinoma; acral lentiginous melanoma
Dr. Aparna Nallagangula

E-Mail Website
Guest Editor
College of Medicine, University of Arizona Cancer Center, Tucson, AZ, USA
Interests: cutaneous oncology; melanoma

Special Issue Information

Dear Colleagues,

Skin cancers, including melanoma, basal cell carcinoma (BCC), and cutaneous squamous cell carcinoma (CSCC), collectively represent the most prevalent malignancies worldwide. While melanoma and Merkel cell carcinoma (MCC) have high mortality rates, a smaller percentage of CSCC or BCC cases lead to metastases or death. Other rare skin cancers, including sebaceous carcinoma, adnexal carcinoma, extramammary Paget’s disease, and cutaneous sarcomas, may also cause profound mortality or morbidity among affected patients.

Research into the underlying biology of skin cancers has led to crucial breakthroughs in this field. The identification of the MAPK pathway in melanoma, the sonic hedgehog pathway in BCC, and the Merkel cell polyomavirus in Merkel cell carcinoma (MCC) all provide important examples of situations in which scientific discovery has been translated into clinically relevant therapeutic targeting. In addition, the recognition that UV-related skin cancers are highly immunogenic has led to the application of immune checkpoint blockade as an important treatment option for cutaneous melanoma, CSCC, BCC and MCC. Unfortunately, roughly half of all patients with these tumor types will not benefit from immune checkpoint blockade. Furthermore, there remains a limited understanding of whether checkpoint blockade is effective for other rare skin cancers and rare, non-UV related melanoma subtypes, such as acral lentiginous melanoma.

This Special Issue will describe the precision oncology approach to rare skin cancers, and welcomes studies that describe the molecular underpinnings of these cancers, novel therapeutics and approaches to managing these tumors.

Dr. Gino K. In
Dr. Aparna Nallagangula
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 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

  • rare skin cancers
  • melanoma
  • cutaneous squamous cell carcinoma
  • basal cell carcinoma
  • Merkel cell carcinoma
  • sebaceous carcinoma
  • adnexal/sweat gland carcinoma
  • dermatofibrosarcoma protuberans
  • extramammary Paget’s disease
  • cutaneous sarcomas

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Published Papers (2 papers)

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Review

11 pages, 557 KiB  
Review
Molecular Characterization of Atypical Fibroxanthoma and Pleomorphic Dermal Sarcoma
by Jason C. Klein, Breelyn A. Wilky and Heide L. Ford
Cancers 2025, 17(11), 1785; https://doi.org/10.3390/cancers17111785 - 27 May 2025
Abstract
Atypical fibroxanthoma (AFX) and pleomorphic dermal sarcoma (PDS) are dermal-based sarcomas that fall along a spectrum with different rates of local recurrence and metastasis. While AFX is less aggressive and confined to the dermis, PDS invades the subcutis. These tumors are most likely [...] Read more.
Atypical fibroxanthoma (AFX) and pleomorphic dermal sarcoma (PDS) are dermal-based sarcomas that fall along a spectrum with different rates of local recurrence and metastasis. While AFX is less aggressive and confined to the dermis, PDS invades the subcutis. These tumors are most likely of mesenchymal origin, although they share common mutations with undifferentiated squamous cell carcinoma. Due to the rarity of these tumors, few studies have examined their molecular composition and gene expression. Initial studies, including exome and bulk RNA sequencing, targeted DNA sequencing of gene panels, DNA methylation, and copy number analyses, have identified recurrent UV-induced mutations in TP53, NOTCH, CDKN2A, and the TERT promoter. Recently, the first scRNA-seq dataset in AFX and PDS identified COL6A3 as a novel biomarker. In this review, we synthesize the above datasets and discuss our current understanding of the molecular drivers and prognostic biomarkers in these tumors. Full article
(This article belongs to the Special Issue Precision Oncology for Rare Skin Cancers)
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18 pages, 510 KiB  
Review
Genetic Drivers in Sebaceous Neoplasms: A Review of Germline and Somatic Mutations and Their Role in Treatment and Management Strategies
by Christina Fujii, Ashley Mochizuki, Sandra Dreike and Joanne M. Jeter
Cancers 2025, 17(4), 659; https://doi.org/10.3390/cancers17040659 - 15 Feb 2025
Viewed by 889
Abstract
Background: The efficacy of germline testing in colorectal cancer has been proven; however, germline testing in individuals with sebaceous neoplasms is less well defined. This review aims to summarize the literature on sebaceous neoplasms to date, describing the somatic tumor profiles, tumor [...] Read more.
Background: The efficacy of germline testing in colorectal cancer has been proven; however, germline testing in individuals with sebaceous neoplasms is less well defined. This review aims to summarize the literature on sebaceous neoplasms to date, describing the somatic tumor profiles, tumor screening methods, and personal and family history that are suspicious of a germline mutation. Sebaceous neoplasms can be attributed to a variety of etiologies, including UV exposure, immunodeficiency, germline mutations, or multifactorial influences associated with aging. Sebaceous tumors with abnormal microsatellite instability and mismatch repair deficiency are indicative of a germline mutation in 20–50% of cases, which is similar to rates found in colorectal tumors. Personal and familial history can also be suggestive of a germline etiology in these patients and should be assessed routinely, as approximately 30% of individuals with sebaceous neoplasms carry a germline mutation. We outline a strategy for the identification of individuals at risk for germline mutations, recommendations for the management of mutation carriers, and treatment options for individuals with sebaceous neoplasms. Conclusions: Sebaceous tumors are most often sporadic; however, evaluations of a germline etiology are prudent to effectively identify those at risk of additional malignancies as well as at-risk family members. Referral to genetic counseling and germline genetic testing for individuals at risk can significantly impact cancer treatment and screening in patients and their families. Full article
(This article belongs to the Special Issue Precision Oncology for Rare Skin Cancers)
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