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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

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

Deadline for manuscript submissions: 20 February 2025 | Viewed by 4033

Special Issue Editors

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
Dr. Asad Ullah

E-Mail Website
Guest Editor
Department of Pathology, Texas Tech University Health Sciences Center, Lubbock, TX, USA
Interests: cancer epidemiology; cancer diagnosis; genomic profiling of cancer; emerging therapies in cancer, neuroendocrine neoplasm; melanoma
Special Issues, Collections and Topics in MDPI journals
Dr. Nabin Raj Karki

E-Mail Website
Guest Editor
Mitchell Cancer Institute, University of South Alabama, Mobile, AL 36604, USA
Interests: bladder cancer; kidney cancer; prostate cancer; testicular cancer; castrate-resistant prostate cancer; adjuvant therapy; immunotherapy; health services and outcomes; rare cancer

Special Issue Information

Dear Colleagues,

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 low case counts, studying rare cancers represents a challenge. This is reflected in 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
Dr. Asad Ullah
Dr. Nabin Raj Karki
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 cancer
  • biology
  • diagnosis
  • classification
  • personalized therapeutics
  • markers

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Published Papers (3 papers)

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Research

15 pages, 3681 KiB  
Article
Predictive Nomogram and Propensity Score Matching in Neuroendocrine Carcinoma of the Tubular Gastrointestinal Tract: A US Population-Based Clinical Outcome Study
by Abdul Qahar Khan Yasinzai, Marjan Khan, Abdullah Chandasir, Diego Olavarria-Bernal, Amir Humza Sohail, Agha Wali, Bisma Tareen, Tena Nguyen, Ashley D. Fox, Aman Goyal, Israr Khan, Abdul Waheed, Asif Iqbal, Nabin Raj Karki, Kanak Das and Asad Ullah
Cancers 2024, 16(11), 1998; https://doi.org/10.3390/cancers16111998 - 24 May 2024
Viewed by 1070
Abstract
Background: Neuroendocrine carcinomas (NECs) of the tubular gastrointestinal tract (GI-NECs) are rare and associated with worse clinical outcomes. This population-based study aims to highlight key demographics, clinicopathological factors, and survival outcomes in the US population. Methods: Data from 10,387 patients with GI-NECs were [...] Read more.
Background: Neuroendocrine carcinomas (NECs) of the tubular gastrointestinal tract (GI-NECs) are rare and associated with worse clinical outcomes. This population-based study aims to highlight key demographics, clinicopathological factors, and survival outcomes in the US population. Methods: Data from 10,387 patients with GI-NECs were extracted from the Surveillance, Epidemiology, and End Result (SEER) database from 2000 to 2020. Results: Most patients were >40 years old at the time of presentation with a median age of 63 years old, with almost equal ethnic distribution per US population data. The most common primary tumor site was the small intestine (33.6%). The metastatic spread was localized in 34.8%, regional in 27.8%, and distant in 37.3% of cases, and the liver was the most common site of metastasis (19.9%) in known cases of metastases. Most NEC patients underwent surgery, presenting the highest 5-year overall survival of 73.2% with a 95% confidence interval (CI) (95% CI 72.0–74.4%), while chemotherapy alone had the lowest 5-year survival of 8.0% (95% CI 6.4–10.0%). Compared to men, women had a superior 5-year survival rate of 59.0% (95% CI 57.6–60.5%). On multivariate analysis, age > 65 (HR 2.49, 95% CI 2.36–2.54%, p ≤ 0.001), distant metastasis (HR 2.57, 95% CI 2.52–2.62%, p ≤ 0.001), tumor size > 4 mm (HR 1.98, 95%, CI 1.70–2.31%, p ≤ 0.001), esophageal (HR 1.49, 95% CI 0.86–2.58%, p ≤ 0.001), transverse colon (HR 1.95, 95% CI 1.15–3.33%, p ≤ 0.01), descending colon (HR 2.12, 95% CI 1.12, 3.97%, p = 0.02) anorectal sites, and liver or lung metastases were associated with worse survival. Surgical intervention and tumors located in the small intestine or appendix showed a better prognosis. Conclusion: GI-NECs are a group of rare malignancies associated with a poor prognosis. Therefore, epidemiological studies analyzing national databases may be the best alternative to have a more comprehensive understanding of this condition, assess the impact of current practices, and generate prognosis tools. Full article
(This article belongs to the Special Issue Rare Cancers, Diagnostic Challenges and Personalized Therapeutic Approaches in the 21st Century)
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13 pages, 3002 KiB  
Article
Tumor Budding, p53, and DNA Mismatch Repair Markers in Sinonasal Intestinal-Type Adenocarcinoma: A Retrospective Study Supports the Adverse Prognostic Impact of Tumor Budding
by Sebastiano Puccio, Giuseppe Azzarello, Valeria Maffeis, Licia Laurino, Edoardo Mairani, Federica Conte, Nicola Tessari, Diego Cazzador, Elisabetta Zanoletti, Doriano Politi, Enzo Emanuelli, Giacomo Spinato and Simonetta Ausoni
Cancers 2024, 16(10), 1895; https://doi.org/10.3390/cancers16101895 - 16 May 2024
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Abstract
Sinonasal intestinal-type adenocarcinoma (ITAC) is a very rare, closely occupational-related tumor with strong histological similarities to colorectal cancer (CRC). In the latter, tumor budding (TB) is widely recognized as a negative prognostic parameter. The aim of this study was to evaluate the prognostic [...] Read more.
Sinonasal intestinal-type adenocarcinoma (ITAC) is a very rare, closely occupational-related tumor with strong histological similarities to colorectal cancer (CRC). In the latter, tumor budding (TB) is widely recognized as a negative prognostic parameter. The aim of this study was to evaluate the prognostic role of TB in ITAC and to correlate it with other established or emerging biomarkers of the disease, such as p53 and deficient DNA mismatch repair (MMR) system status/microsatellite instability (MSI). We retrospectively analyzed 32 consecutive specimens of patients with ITAC diagnosis treated in two institutions in Northern Italy. We reviewed surgical specimens for TB evaluation (low-intermediate/high); p53 expression and MMR proteins were evaluated via immunohistochemistry. Results were retrospectively stratified using clinical data and patients’ outcomes. According to bud counts, patients were stratified into two groups: intermediate/high budding (>4 TB) and low budding (≤4 TB). Patients with high TB (>4) have an increased risk of recurrence and death compared to those with low TB, with a median survival of 13 and 54 months, respectively. On multivariate analysis, considering TB, therapy, and stage as covariates, TB emerged as an independent prognostic factor net of the stage of disease or type of therapy received. No impact of p53 status as a biomarker of prognosis was observed and no alterations regarding MMR proteins were identified. The results of the present work provide further significant evidence on the prognostic role of TB in ITAC and underline the need for larger multicenter studies to implement the use of TB in clinical practice. Full article
(This article belongs to the Special Issue Rare Cancers, Diagnostic Challenges and Personalized Therapeutic Approaches in the 21st Century)
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25 pages, 14573 KiB  
Article
A Gold Standard-Derived Modular Barcoding Approach to Cancer Transcriptomics
by Yan Zhu, Mohamad Karim I. Koleilat, Jason Roszik, Man Kam Kwong, Zhonglin Wang, Dipen M. Maru, Scott Kopetz and Lawrence N. Kwong
Cancers 2024, 16(10), 1886; https://doi.org/10.3390/cancers16101886 - 15 May 2024
Viewed by 1264
Abstract
A challenge with studying cancer transcriptomes is in distilling the wealth of information down into manageable portions of information. In this resource, we develop an approach that creates and assembles cancer type-specific gene expression modules into flexible barcodes, allowing for adaptation to a [...] Read more.
A challenge with studying cancer transcriptomes is in distilling the wealth of information down into manageable portions of information. In this resource, we develop an approach that creates and assembles cancer type-specific gene expression modules into flexible barcodes, allowing for adaptation to a wide variety of uses. Specifically, we propose that modules derived organically from high-quality gold standards such as The Cancer Genome Atlas (TCGA) can accurately capture and describe functionally related genes that are relevant to specific cancer types. We show that such modules can: (1) uncover novel gene relationships and nominate new functional memberships, (2) improve and speed up analysis of smaller or lower-resolution datasets, (3) re-create and expand known cancer subtyping schemes, (4) act as a “decoder” to bridge seemingly disparate established gene signatures, and (5) efficiently apply single-cell RNA sequencing information to other datasets. Moreover, such modules can be used in conjunction with native spreadsheet program commands to create a powerful and rapid approach to hypothesis generation and testing that is readily accessible to non-bioinformaticians. Finally, we provide tools for users to create and interpret their own modules. Overall, the flexible modular nature of the proposed barcoding provides a user-friendly approach to rapidly decoding transcriptome-wide data for research or, potentially, clinical uses. Full article
(This article belongs to the Special Issue Rare Cancers, Diagnostic Challenges and Personalized Therapeutic Approaches in the 21st Century)
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