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Rare Cancers, Diagnostic Challenges and Personalized Therapeutic Approaches in the...
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Rare Cancers, Diagnostic Challenges and Personalized Therapeutic Approaches in the 21st Century (2nd Edition)

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

Deadline for manuscript submissions: 20 August 2026 | Viewed by 1344

Special Issue Editor

Dr. Jason Roszik

E-Mail Website
Guest Editor
Department of Melanoma Medical Oncology, Division of Cancer Medicine, The University of Texas MD Anderson Cancer Center, Houston, TX, USA
Interests: computational cancer genomics; next generation sequencing; targeted therapy; immunotherapy; target discovery; drug repurposing; rare cancers
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

This Special Issue is a continuation of our previous one, entitled "Rare Cancers, Diagnostic Challenges and Personalized Therapeutic Approaches in the 21st Century”.

Rare cancers, as defined by the National Cancer Institute in the US, have an incidence of less than 15 cases per 100,000 people per annum. They comprise about 200 cancer types, and nearly one-fourth of all new cancer cases in the US are rare. Because of the low case counts, studying rare cancers represents a challenge. This is reflected by a limited understanding of their biology, challenges with diagnosis and classification, non-uniform standards of care, and generally poor outcomes. Personalized therapeutic approaches, based on advances in cancer biology and novel markers, are yielding promising changes to this landscape. In this Special Issue, we invite researchers to submit original research manuscripts and reviews on diagnostic challenges, advances in cancer biology, and novel therapeutic approaches to rare cancers.

Dr. Jason Roszik
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 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 cancer
  • biology
  • diagnosis
  • classification
  • personalized therapeutics
  • markers

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Further information on MDPI's Special Issue policies can be found here.

Published Papers (2 papers)

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Research

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11 pages, 229 KB  
Article
Occurrence of Malignancies Other than Breast and Ovarian Cancer in Female Carriers of a BRCA1/2 Germline Pathogenic Variant
by Annechien Stuursma, Bert van der Vegt, Lieke P. V. Berger, Maaike B. C. ten Hoor, Jan C. Oosterwijk, Marian J. E. Mourits and Geertruida H. de Bock
Cancers 2025, 17(10), 1687; https://doi.org/10.3390/cancers17101687 - 17 May 2025
Viewed by 643
Abstract
Introduction: Previous studies have suggested an additional increased risk for types of malignancies other than breast and ovarian cancer for female BRCA1/2 GPV carriers, but risk estimates vary widely. The aim of this study was to investigate if female BRCA1/2 GPV carriers have [...] Read more.
Introduction: Previous studies have suggested an additional increased risk for types of malignancies other than breast and ovarian cancer for female BRCA1/2 GPV carriers, but risk estimates vary widely. The aim of this study was to investigate if female BRCA1/2 GPV carriers have an increased risk of malignancies other than breast and tubal/ovarian cancer at an early age. Methods: Prospectively collected data from female BRCA1/2 GPV carriers in our hospital-based data/biobank were linked to the PALGA Dutch Pathology Database. Incidences of malignancies occurring before 60 years of age were compared to crude rates/100.000 person-years in the Netherlands, stratified by age and calendar time. Standardized incidence ratios (SIRs) were calculated with 95% confidence intervals (95%CIs). Results: In 1347 women, 82 malignancies other than breast and tubal/ovarian cancer were detected in patients under 60 years of age in 37,068 person-years. An increased risk of cancer in general (SIR:2.25, 95%CI:1.78–2.80, p < 0.001), head and neck cancer (SIR:3.17, 95%CI:1.03–7.39, p < 0.05), gastrointestinal cancer (SIR:1.96, 95%CI:1.14–3.13, p < 0.05), and female genital cancer (SIR:2.48, 95%CI:1.61–3.65, p < 0.001) was found. Conclusions: If confirmed in larger, prospective studies that include the role of bias and previous cancer treatment, awareness of the possible increased risks of head and neck, gastrointestinal, and female genital cancer may be used to tailor clinical guidelines for female BRCA1/2 GPV carriers. Full article
(This article belongs to the Special Issue Rare Cancers, Diagnostic Challenges and Personalized Therapeutic Approaches in the 21st Century (2nd Edition))

Review

Jump to: Research

20 pages, 1465 KB  
Review
The Genomic Topography of Appendiceal Cancers: Our Current Understanding, Clinical Perspectives, and Future Directions
by Daniel J. Gironda, Richard A. Erali, Steven D. Forsythe, Ashok K. Pullikuth, Rui Zheng-Pywell, Kathleen A. Cummins, Shay Soker, Xianyong Gui, Edward A. Levine, Konstantinos I. Votanopoulos and Lance D. Miller
Cancers 2025, 17(19), 3275; https://doi.org/10.3390/cancers17193275 - 9 Oct 2025
Viewed by 399
Abstract
Background/Objectives: Appendiceal cancer (AC) is a rare and understudied malignancy with limited genomic data available to guide clinical interventions. Historically treated as a subtype of colorectal cancer, AC is now recognized as a distinct disease with unique histologic subtypes and molecular features. [...] Read more.
Background/Objectives: Appendiceal cancer (AC) is a rare and understudied malignancy with limited genomic data available to guide clinical interventions. Historically treated as a subtype of colorectal cancer, AC is now recognized as a distinct disease with unique histologic subtypes and molecular features. This review aims to consolidate current genomic data across AC subtypes and explore the clinical relevance of recurrent mutations. Methods: A systematic literature review was performed in accordance with general Preferred Reporting Items for Systemic Reviews and Meta-Analyses (PRISMA) guidelines. Using search engines such as PubMed and Web of Science, we selected studies based on relevance to AC genomics using search terms such as “appendix cancer”, “appendiceal cancer”, “pseudomyxoma peritonei”, “sequencing”, “mutation”, and “genotype”. Results: AC comprises five major histologic subtypes—appendiceal neuroendocrine neoplasms (ANENs), mucinous appendiceal neoplasms (MANs), goblet cell adenocarcinomas (GCAs), colonic-type adenocarcinomas (CTAs) and signet ring cell adenocarcinomas (SRCs)—each with unique clinical behaviors and mutational profiles. Low-grade tumors, such as ANENs and MANs, frequently harbor KRAS and GNAS mutations, while high-grade subtypes, such as CTAs and SRCs, are enriched for TP53, APC, and SMAD gene alterations. GCA tumors exhibit a distinct mutational spectrum involving chromatin remodeling genes such as ARID1A and KMT2D. Compared to colorectal cancer, AC demonstrates lower frequencies of APC and TP53 mutations and a higher prevalence of GNAS mutations, consistent with a pathological divergence from CRC. Conclusions: The genomic heterogeneity of AC is commensurate with its histological complexity and has important implications for diagnosis, prognosis and treatment. While certain actionable mutations are present in a subset of tumors, large-scale genomic characterization efforts and development of subtype-specific models will be essential for advancing precision medicine in AC. Full article
(This article belongs to the Special Issue Rare Cancers, Diagnostic Challenges and Personalized Therapeutic Approaches in the 21st Century (2nd Edition))
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