Search for Articles:
Title / Keyword
Author / Affiliation / Email
Journal
Article Type
 
 
Advanced Search
 
Section
Special Issue
Volume
Issue
Number
Page
 
7.4
5.2
Journals
Cancers
Special Issues
New Insights in the Genetics and Genomics of Adrenocortical Tumors...
share announcement

New Insights in the Genetics and Genomics of Adrenocortical Tumors and Pheochromocytomas

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

Deadline for manuscript submissions: 26 April 2024 | Viewed by 5536

Special Issue Editor

Prof. Dr. Peter Igaz

E-Mail Website
Collection Editor
Department of Endocrinology at the Department of Internal Medicine and Oncology, Semmelweis University, Budapest, Hungary
Interests: adrenal tumors; adrenocortical cancer; pheochromocytoma; genetics; genomics; microRNAs; non-coding RNA; multiple endocrine neoplasia syndromes; neuroendocrine tumors
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues, 

Adrenal tumors are common and are often incidentally discovered during imaging (adrenal incidentalomas). Most of the adrenal tumors are indolent hormonally inactive tumors of adrenocortical origin, but hormonally active adrenocortical tumors, catecholamine-secreting adrenomedullary pheochromocytomas, and adrenocortical cancer have significant morbidity and mortality.

This Topical Collection focuses on adrenocortical cancer and pheochromocytomas.

There have been significant advances in our understanding of the pathogenesis of adrenocortical cancer in recent years, but we are still far from a complete picture. Recent studies using high-throughput bioinformatics approaches have contributed to significant progress in genomics and epigenomics of adrenal tumors that involve both the analysis of transcriptome, methylome, miRnome and other non-coding RNA. Novel biomarkers of adrenal malignancy and tumor classification can be developed based on these observations.

Pheochromocytomas are rare, but exceptional, as germ-line genetic mutations are found in approximately 40% of cases that render pheochromocytomas the human tumors with the highest heritability. Several novel genes and pathomechanisms have been established in recent years in their pathogenesis.

An important feature of pheochromocytomas is related to difficulties in establishing its metastatic potential. At present, the diagnosis of metastatic pheochromocytoma is clinical as there are no fully reliable markers of malignancy.

Genetic and genomics issues have relevance in the pathogenesis, diagnosis and treatment of these intriguing tumor types.

This Topical Collection aims to cover several aspects of both adrenocortical cancer and pheochromocytomas involving advances in both genetics and epi/genomics.

Prof. Dr. Peter Igaz
Collection 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 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. 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

  • adrenal tumor
  • adrenal incidentaloma
  • adrenocortical cancer
  • pheochromocytoma
  • malignant pheochromocytoma
  • hereditary
  • multiple endocrine neoplasia syndromes
  • susceptibility gene
  • pseudohypoxia
  • transcriptomics
  • methylome
  • microRNA
  • miRnome
  • non-coding RNA
  • genetics
  • epigenetics
  • genomics
  • epigenomics
  • biomarker
  • tumor classification

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

19 pages, 4704 KiB  
Article
Comprehensive Characterization of the Regulatory Landscape of Adrenocortical Carcinoma: Novel Transcription Factors and Targets Associated with Prognosis
by João C. D. Muzzi, Jéssica M. Magno, Jean S. Souza, Larissa M. Alvarenga, Juliana F. de Moura, Bonald C. Figueiredo and Mauro A. A. Castro
Cancers 2022, 14(21), 5279; https://doi.org/10.3390/cancers14215279 - 27 Oct 2022
Cited by 5 | Viewed by 1699
Abstract
We reconstructed a transcriptional regulatory network for adrenocortical carcinoma (ACC) using transcriptomic and clinical data from The Cancer Genome Atlas (TCGA)-ACC cohort. We investigated the association of transcriptional regulatory units (regulons) with overall survival, molecular phenotypes, and immune signatures. We annotated the ACC [...] Read more.
We reconstructed a transcriptional regulatory network for adrenocortical carcinoma (ACC) using transcriptomic and clinical data from The Cancer Genome Atlas (TCGA)-ACC cohort. We investigated the association of transcriptional regulatory units (regulons) with overall survival, molecular phenotypes, and immune signatures. We annotated the ACC regulons with cancer hallmarks and assessed single sample regulon activities in the European Network for the Study of Adrenal Tumors (ENSAT) cohort. We found 369 regulons associated with overall survival and subdivided them into four clusters: RC1 and RC2, associated with good prognosis, and RC3 and RC4, associated with worse outcomes. The RC1 and RC3 regulons were highly correlated with the ‘Steroid Phenotype,’ while the RC2 and RC4 regulons were highly correlated with a molecular proliferation signature. We selected two regulons, NR5A1 (steroidogenic factor 1, SF-1) and CENPA (Centromeric Protein A), that were consistently associated with overall survival for further downstream analyses. The CENPA regulon was the primary regulator of MKI-67 (a marker of proliferation KI-67), while the NR5A1 regulon is a well-described transcription factor (TF) in ACC tumorigenesis. We also found that the ZBTB4 (Zinc finger and BTB domain-containing protein 4) regulon, which is negatively associated with CENPA in our transcriptional regulatory network, is also a druggable anti-tumorigenic TF. We anticipate that the ACC regulons may be used as a reference for further investigations concerning the complex molecular interactions in ACC tumors. Full article
(This article belongs to the Special Issue New Insights in the Genetics and Genomics of Adrenocortical Tumors and Pheochromocytomas)
►▼ Show Figures

Graphical abstract

14 pages, 1593 KiB  
Article
Exploratory Circular RNA Profiling in Adrenocortical Tumors
by Péter István Turai, Gábor Nyirő, Katalin Borka, Tamás Micsik, István Likó, Attila Patócs and Peter Igaz
Cancers 2022, 14(17), 4313; https://doi.org/10.3390/cancers14174313 - 02 Sep 2022
Cited by 1 | Viewed by 1560
Abstract
Differentiation of adrenocortical adenoma (ACA) and carcinoma (ACC) is often challenging even in the histological analysis. Circular RNAs (circRNAs) belonging to the group of non-coding RNAs have been implicated as relevant factors in tumorigenesis. Our aim was to explore circRNA expression profiles in [...] Read more.
Differentiation of adrenocortical adenoma (ACA) and carcinoma (ACC) is often challenging even in the histological analysis. Circular RNAs (circRNAs) belonging to the group of non-coding RNAs have been implicated as relevant factors in tumorigenesis. Our aim was to explore circRNA expression profiles in adrenocortical tumors by next-generation sequencing followed by RT-qPCR validation. Archived FFPE (formalin-fixed, paraffin embedded) including 8 ACC, 8 ACA and 8 normal adrenal cortices (NAC) were used in the discovery cohort. For de novo and known circRNA expression profiling, a next-generation sequencing platform was used. CIRI2, CircExplorer2, AutoCirc bioinformatics tools were used for the discovery of circRNAs. The top five most differentially circRNAs were measured by RT-qPCR in an independent validation cohort (10 ACC, 8 ACA, 8 NAC). In silico predicted, interacting microRNAs potentially sponged by differentially expressed circRNAs were studied by individual RT-qPCR assays. We focused on overexpressed circRNAs here. Significantly differentially expressed circRNAs have been revealed between the cohorts by NGS. Only circPHC3 could be confirmed to be significantly overexpressed in ACC, ACA vs. NAC samples by RT-qPCR. We could not observe microRNA expression changes fully corresponding to our sponging hypothesis. To the best of our knowledge, our study is the first to investigate circRNAs in adrenocortical tumors. Further studies are warranted to explore their biological and diagnostic relevance. Full article
(This article belongs to the Special Issue New Insights in the Genetics and Genomics of Adrenocortical Tumors and Pheochromocytomas)
►▼ Show Figures

Figure 1

13 pages, 1213 KiB  
Article
Postoperative Recurrences in Patients Operated for Pheochromocytomas and Paragangliomas: New Data Supporting Lifelong Surveillance
by Stefanie Parisien-La Salle, Jessica Chbat, André Lacroix, Paul Perrotte, Pierre Karakiewicz, Issam Saliba, Xuan Kim Le, Harold J. Olney and Isabelle Bourdeau
Cancers 2022, 14(12), 2942; https://doi.org/10.3390/cancers14122942 - 14 Jun 2022
Cited by 10 | Viewed by 1711
Abstract
At least 10% of pheochromocytomas (PHEOs) and paragangliomas (PGLs) (PPGLs) may recur after the initial surgery. Guidelines recommend annual screening for recurrence in non-metastatic tumors for at least 10 years after the initial surgical resection and lifelong screening in high-risk patients. However, recent [...] Read more.
At least 10% of pheochromocytomas (PHEOs) and paragangliomas (PGLs) (PPGLs) may recur after the initial surgery. Guidelines recommend annual screening for recurrence in non-metastatic tumors for at least 10 years after the initial surgical resection and lifelong screening in high-risk patients. However, recent data suggest that a shorter follow-up might be appropriate. We performed a retrospective analysis on patients with PPGLs who had local and/or metastatic recurrences between 1995 and 2020 in our center. Data were available for 39 cases of recurrence (69.2% female) including 20 PHEOs (51.3%) and 19 PGLs (48.7%) (13 head and neck (HNPGL) and 6 thoracoabdominal (TAPGL)). The overall average delay of recurrence was 116.6 months (14–584 months) or 9.7 years and the median was 71 months or 5.9 years. One-third of the cohort had a recurrence more than 10 years after the initial surgery (10–48.7 years). The average tumor size at initial diagnosis was 8.2 cm for PHEOs, 2.7 cm for HNPGLs, and 9.6 cm for TAPGLs. Interestingly, 17.6% of PHEOs were under 5 cm at the initial diagnosis. Metastatic recurrence was identified in 75% of PHEOs, 15.4% of HNPGLs, and 66.7% of TAPGLs. Finally, 12/23 (52.2%) patients with recurrence who underwent genetic testing carried a germline mutation. Overall, the safest option remains a lifelong follow-up. Full article
(This article belongs to the Special Issue New Insights in the Genetics and Genomics of Adrenocortical Tumors and Pheochromocytomas)
►▼ 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