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Special Issue "Genomics and Epigenetics of Rare Tumors"

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Genetics and Genomics".

Deadline for manuscript submissions: 26 February 2022.

Special Issue Editors

Dr. Camille Tlemsani
E-Mail Website
Guest Editor
Oncology Department, Cochin Hospital, AP-HP.Centre-Université de Paris & Team "Genomics and epigenetics of rare tumors", Institut Cochin, Inserm U1016-CNRS UMR8104-Université de Paris, CARPEM, Paris, France
Interests: genomic medicine; functional genomics; tumor predisposition syndromes; molecular genetics; cancer therapy; sarcoma
Dr. Eric Pasmant
E-Mail Website
Guest Editor
1. INSERM U1016, Cochin Institute, CARPEM, Paris Descartes University, Sorbonne Paris Cité, 75006 Paris, France
2. Department of Molecular Genetics, Cochin Hospital, AP-HP, 75006 Paris, France
Interests: neurofibromatosis; cancer; molecular genetics; NGS; RAS-MAPK pathway
Special Issues and Collections in MDPI journals

Special Issue Information

Dear Colleagues,

Better approaches to diagnosing and treating rare cancers are urgently needed, because treatments for many rare cancers have not advanced at the same pace as treatments for more common cancers. Genomic medicine is transforming our understanding of cancer’s origins and complexity by providing detailed characterizations of cancer development in an individual. As well as advancing our understanding of what causes each person’s cancer, genomics is providing insights into how an individual’s cancer might progress, and its likely response to treatment. Genomic and epigenomic profiling of rare tumors and cancers—which collectively account for a significant proportion of cancer diagnoses—has the potential to improve a patient's diagnosis and treatment.

This Special Issue of the International Journal of Molecular Sciences is dedicated to the genomics and epigenetics of rare cancers, and welcomes reviews and original papers covering recent genomic and epigenomic research on rare tumor and cancers, including solid and hematological malignancies, pediatric cancers, and tumor predisposition syndromes; case reports highlighting genomic medicine approaches that can be utilized in several clinical scenarios may also be considered.

Dr. Camille Tlemsani
Dr. Eric Pasmant
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 papers will be 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. International Journal of Molecular Sciences is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. There is an Article Processing Charge (APC) for publication in this open access journal. For details about the APC please see here. 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

  • Genomics and epigenomics
  • Rare tumors and cancers
  • Precision therapy
  • Genomic medicine

Published Papers (1 paper)

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Research

Article
Somatotroph Tumors and the Epigenetic Status of the GNAS Locus
Int. J. Mol. Sci. 2021, 22(14), 7570; https://0-doi-org.brum.beds.ac.uk/10.3390/ijms22147570 - 15 Jul 2021
Viewed by 762
Abstract
Forty percent of somatotroph tumors harbor recurrent activating GNAS mutations, historically called the gsp oncogene. In gsp-negative somatotroph tumors, GNAS expression itself is highly variable; those with GNAS overexpression most resemble phenotypically those carrying the gsp oncogene. GNAS is monoallelically expressed in [...] Read more.
Forty percent of somatotroph tumors harbor recurrent activating GNAS mutations, historically called the gsp oncogene. In gsp-negative somatotroph tumors, GNAS expression itself is highly variable; those with GNAS overexpression most resemble phenotypically those carrying the gsp oncogene. GNAS is monoallelically expressed in the normal pituitary due to methylation-based imprinting. We hypothesize that changes in GNAS imprinting of gsp-negative tumors affect GNAS expression levels and tumorigenesis. We characterized the GNAS locus in two independent somatotroph tumor cohorts: one of 23 tumors previously published (PMID: 31883967) and classified by pan-genomic analysis, and a second with 82 tumors. Multi-omics analysis of the first cohort identified a significant difference between gsp-negative and gsp-positive tumors in the methylation index at the known differentially methylated region (DMR) of the GNAS A/B transcript promoter, which was confirmed in the larger series of 82 tumors. GNAS allelic expression was analyzed using a polymorphic Fok1 cleavage site in 32 heterozygous gsp-negative tumors. GNAS expression was significantly reduced in the 14 tumors with relaxed GNAS imprinting and biallelic expression, compared to 18 tumors with monoallelic expression. Tumors with relaxed GNAS imprinting showed significantly lower SSTR2 and AIP expression levels. Altered A/B DMR methylation was found exclusively in gsp-negative somatotroph tumors. 43% of gsp-negative tumors showed GNAS imprinting relaxation, which correlated with lower GNAS, SSTR2 and AIP expression, indicating lower sensitivity to somatostatin analogues and potentially aggressive behavior. Full article
(This article belongs to the Special Issue Genomics and Epigenetics of Rare Tumors)
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