Search for Articles:
Title / Keyword
Author / Affiliation / Email
Journal
Article Type
 
 
Advanced Search
 
Section
Special Issue
Volume
Issue
Number
Page
 
8.1
4.9
Journals
IJMS
Special Issues
Genomics and Epigenetics of Rare Tumors
ijms-logo
Submit to IJMS Review for IJMS Propose a Special Issue

Journal Menu

► Journal Menu

Journal Browser

► Journal Browser
share announcement

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: closed (26 February 2022) | Viewed by 13007

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, Collections and Topics 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 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 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 (3 papers)

Download All Papers
Order results
Result details
Show export options expand_more Show export options expand_less
Select all
Export citation of selected articles as:

Research

Jump to: Review

10 pages, 4914 KiB  
Article
Somatotroph Tumors and the Epigenetic Status of the GNAS Locus
by Pauline Romanet, Justine Galluso, Peter Kamenicky, Mirella Hage, Marily Theodoropoulou, Catherine Roche, Thomas Graillon, Heather C. Etchevers, Daniel De Murat, Grégory Mougel, Dominique Figarella-Branger, Henry Dufour, Thomas Cuny, Guillaume Assié and Anne Barlier
Int. J. Mol. Sci. 2021, 22(14), 7570; https://doi.org/10.3390/ijms22147570 - 15 Jul 2021
Cited by 6 | Viewed by 2662
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)
►▼ Show Figures

Figure 1

Review

Jump to: Research

18 pages, 1653 KiB  
Review
Biology and Management of High-Grade Chondrosarcoma: An Update on Targets and Treatment Options
by Camille Tlemsani, Frédérique Larousserie, Sixtine De Percin, Virginie Audard, Djihad Hadjadj, Jeanne Chen, David Biau, Philippe Anract, Benoit Terris, François Goldwasser, Eric Pasmant and Pascaline Boudou-Rouquette
Int. J. Mol. Sci. 2023, 24(2), 1361; https://doi.org/10.3390/ijms24021361 - 10 Jan 2023
Cited by 10 | Viewed by 6986
Abstract
This review provides an overview of histopathology, clinical presentation, molecular pathways, and potential new systemic treatments of high-grade chondrosarcomas (CS), including grade 2–3 conventional, dedifferentiated, and mesenchymal CS. The diagnosis of CS combines radiological and histological data in conjunction with patient clinical presentations. [...] Read more.
This review provides an overview of histopathology, clinical presentation, molecular pathways, and potential new systemic treatments of high-grade chondrosarcomas (CS), including grade 2–3 conventional, dedifferentiated, and mesenchymal CS. The diagnosis of CS combines radiological and histological data in conjunction with patient clinical presentations. Conventional CS is the most frequent subtype of CS (85%) and represents about 25% of primary bone tumors in adults; they can be categorized according to their bone location into central, peripheral, and periosteal chondrosarcomas. Central and peripheral CS differ at the molecular level with either IDH1/2 mutations or EXT1/2 mutations, respectively. CDKN2A/B deletions are also frequent in conventional CS, as well as COL2A1 mutations. Dedifferentiated CS develops when low-grade conventional CS transforms into a high-grade sarcoma and most frequently exhibits features of osteosarcoma, fibrosarcoma, or undifferentiated pleomorphic sarcoma. Their molecular characteristics are similar to conventional CS. Mesenchymal CS is a totally different pathological entity exhibiting recurrent translocations. Their clinical presentation and management are different too. The standard treatment of CSs is wide en-bloc resection. CS are relatively radiotherapy resistant; therefore, doses >60 Gy are needed in an attempt to achieve local control in unresectable tumors. Chemotherapy is possibly effective in mesenchymal chondrosarcoma and is of uncertain value in dedifferentiated chondrosarcoma. Due to resistance to standard anticancer agents, the prognosis is poor in patients with metastatic or unresectable chondrosarcomas. Recently, the refined characterization of the molecular profile, as well as the development of new treatments, allow new therapeutic options for these rare tumors. The efficiency of IDH1 inhibitors in other malignancies suggests that these inhibitors will be part of IDH1/2 mutated conventional CS management soon. Other treatment approaches, such as PIK3-AKT-mTOR inhibitors, cell cycle inhibitors, and epigenetic or immune modulators based on improving our understanding of CS molecular biology, are emerging. Full article
(This article belongs to the Special Issue Genomics and Epigenetics of Rare Tumors)
►▼ Show Figures

Figure 1

14 pages, 1763 KiB  
Review
MiTF/TFE Translocation Renal Cell Carcinomas: From Clinical Entities to Molecular Insights
by Audrey Simonaggio, Damien Ambrosetti, Virginie Verkarre, Marie Auvray, Stéphane Oudard and Yann-Alexandre Vano
Int. J. Mol. Sci. 2022, 23(14), 7649; https://doi.org/10.3390/ijms23147649 - 11 Jul 2022
Cited by 13 | Viewed by 2429
Abstract
MiTF/TFE translocation renal cell carcinoma (tRCC) is a rare and aggressive subtype of RCC representing the most prevalent RCC in the pediatric population (up to 40%) and making up 4% of all RCCs in adults. It is characterized by translocations involving either TFE3 [...] Read more.
MiTF/TFE translocation renal cell carcinoma (tRCC) is a rare and aggressive subtype of RCC representing the most prevalent RCC in the pediatric population (up to 40%) and making up 4% of all RCCs in adults. It is characterized by translocations involving either TFE3 (TFE3-tRCC), TFEB (TFEB-tRCC) or MITF, all members of the MIT family (microphthalmia-associated transcriptional factor). TFE3-tRCC was first recognized in the World Health Organization (WHO) classification of kidney cancers in 2004. In contrast to TFEB-tRCC, TFE3-tRCC is associated with many partners that can be detected by RNA or exome sequencing. Both diagnoses of TFE3 and TFEB-tRCC are performed on morphological and immunohistochemical features, but, to date, TFE break-apart fluorescent in situ hybridization (FISH) remains the gold standard for diagnosis. The clinical behavior of tRCC is heterogeneous and more aggressive in adults. Management of metastatic tRCC is challenging, especially in the younger population, and data are scarce. Efficacy of the standard of care-targeted therapies and immune checkpoint inhibitors remains low. Recent integrative exome and RNA sequencing analyses have provided a better understanding of the biological heterogeneity, which can contribute to a better therapeutic approach. We describe the clinico-pathological entities, the response to systemic therapy and the molecular features and techniques used to diagnose tRCC. Full article
(This article belongs to the Special Issue Genomics and Epigenetics of Rare Tumors)
►▼ Show Figures

Figure 1

Show export options expand_more Show export options expand_less
Select all
Export citation of selected articles as:
 
Displaying articles 1-3
Back to TopTop