Molecular Genetic Investigation of Rare Cancers

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Human Genomics and Genetic Diseases".

Deadline for manuscript submissions: closed (25 March 2024) | Viewed by 3835

Special Issue Editor


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Guest Editor
Laboratory of Translational RNA Biology, Department of Pathology and Molecular Medicine, Queen’s University, 88 Stuart St, Kingston, ON K7L 3N6, Canada
Interests: rare cancer; microRNA; microRNA genetics; microRNA expression; microRNA targeting; microRNA dysregulation; disease mechanisms; disease models; microRNA diagnostics; microRNA therapeutics
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Special Issue Information

Dear Colleagues,

Rare cancers are defined by their low incidence and prevalence in different populations. However, these cancers collectively account for more than 20 percent of all cancer diagnoses worldwide. Because of their infrequency, rare cancers are often challenging to diagnose, incompletely understood at the molecular level, and lack specific and effective treatments. The unrealistic need for large sample numbers also hampers many clinical studies. In this Special Issue, we focus on genetic, pathobiologic, and computational studies of molecular changes in rare cancer tissues, cell lines, and disease models. We are particularly interested in novel molecular diagnostic, mechanistic, and therapeutic studies. To overcome a major barrier in rare cancer research, well-performed omics-based small case series or n-of-1 studies are particularly encouraged. A fuller understanding of the molecular basis of rare cancers will advance our knowledge of rare cell biology and improve existing diagnostic and therapeutic approaches for these comparatively neglected cancers.

Dr. Neil Renwick
Guest Editor

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Keywords

  • rare cancers
  • cancer biology
  • molecular diagnostics
  • disease mechanisms
  • novel therapeutics
  • N-of-1 studies

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Published Papers (2 papers)

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16 pages, 9024 KiB  
Article
The Immune Microenvironment Landscape of Pituitary NeuroEndocrine Tumors, a Transcriptomic Approach
by Sandra Vela-Patiño, Ma. Isabel Salazar, Keiko Taniguchi-Ponciano, Eduardo Vadillo, Erick Gomez-Apo, Aurea Escobar-España, Vadim Perez-Koldenkova, Laura Bonifaz, Cristina Aguilar-Flores, Daniel Marrero-Rodríguez and Moises Mercado
Genes 2024, 15(5), 531; https://doi.org/10.3390/genes15050531 - 24 Apr 2024
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Abstract
Pituitary neuroendocrine tumors (PitNET) are known to be variably infiltrated by different immune cells. Nonetheless, their role in pituitary oncogenesis has only begun to be unveiled. The immune microenvironment could determine the biological and clinical behavior of a neoplasm and may have prognostic [...] Read more.
Pituitary neuroendocrine tumors (PitNET) are known to be variably infiltrated by different immune cells. Nonetheless, their role in pituitary oncogenesis has only begun to be unveiled. The immune microenvironment could determine the biological and clinical behavior of a neoplasm and may have prognostic implications. To evaluate the expression of immune-related genes and to correlate such expression with the presence of infiltrating immune cells in forty-two PitNETs of different lineages, we performed whole transcriptome analysis and RT-qPCR. Deconvolution analysis was carried out to infer the immune cell types present in each tumor and the presence of immune cells was confirmed by immunofluorescence. We found characteristic expression profiles of immune-related genes including those encoding interleukins and chemokines for each tumor lineage. Genes such as IL4-I1, IL-36A, TIRAP, IL-17REL, and CCL5 were upregulated in all PitNETS, whereas IL34, IL20RA, and IL-2RB characterize the NR5A1-, TBX19-, and POU1F1-derived tumors, respectively. Transcriptome deconvolution analysis showed that M2 macrophages, CD4+ T cells, CD8+ T cells, NK cells, and neutrophils can potentially infiltrate PitNET. Furthermore, CD4+ and CD8+ T cells and NK cells infiltration was validated by immunofluorescence. Expression of CCL18, IL-5RA, and HLA-B as well as macrophage tumor infiltration could identify patients who can potentially benefit from treatment with immune checkpoint inhibitors. Full article
(This article belongs to the Special Issue Molecular Genetic Investigation of Rare Cancers)
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Brief Report
A Case Study of a Rare Undifferentiated Spindle Cell Sarcoma of the Penis: Establishment and Characterization of Patient-Derived Models
by Ariane Cavalcante dos Santos Sousa, Bruno Leonardo Nascimento Correa Fernandes, Jeronimo Paulo Assis da Silva, Paulo Roberto Stevanato Filho, Luiza Bitencourt de Carvalho Terci Coimbra, Adriano de Oliveira Beserra, Ana Luiza Alvarenga, Giovanna Maida, Camila Tokumoto Guimaraes, Ingrid Martinez Nakamuta, Fabio Albuquerque Marchi, Camila Alves, Martina Lichtenfels, Caroline Brunetto de Farias, Bruna Elisa Catin Kupper, Felipe D’Almeida Costa, Celso Abdon Lopes de Mello, Dirce Maria Carraro, Giovana Tardin Torrezan, Ademar Lopes and Tiago Goss dos Santosadd Show full author list remove Hide full author list
Genes 2024, 15(4), 424; https://doi.org/10.3390/genes15040424 - 28 Mar 2024
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Abstract
Rare sarcomas present significant treatment challenges compared to more prevalent soft tissue sarcomas due to limited treatment options and a poor understanding of their biology. This study investigates a unique case of penile sarcoma, providing a comprehensive morphological and molecular analysis. Through the [...] Read more.
Rare sarcomas present significant treatment challenges compared to more prevalent soft tissue sarcomas due to limited treatment options and a poor understanding of their biology. This study investigates a unique case of penile sarcoma, providing a comprehensive morphological and molecular analysis. Through the creation of experimental patient-derived models—including patient-derived xenograft (PDX), 3D, and monolayer primary cultures—we successfully replicated crucial molecular traits observed in the patient’s tumor, such as smooth muscle actin and CD99 expression, along with specific mutations in genes like TSC2 and FGFR4. These models are helpful in assessing the potential for an in-depth exploration of this tumor’s biology. This comprehensive approach holds promise in identifying potential therapeutic avenues for managing this exceedingly rare soft tissue sarcoma. Full article
(This article belongs to the Special Issue Molecular Genetic Investigation of Rare Cancers)
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