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Special Issue Editors

Dr. Fabio R. Faucz

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Guest Editor

Molecular Genomics Core, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA
Interests: molecular biology; endocrine tumors; adrenal and pituitary tumors; cancer genetics; phosphodiesterases

Dr. Laura C. Hernández-Ramírez

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Guest Editor

Laboratory of Genomics, Research Support Network, National Autonomous University of Mexico, National Institute of Medical Sciences and Nutrition Salvador Zubirán, Tlalpan, Mexico City 14080, Mexico
Interests: pituitary tumors; neuroendocrine neoplasia; human genetics; acromegaly; gigantism; Cushing's disease

Special Issue Information

Dear Colleagues,

In 1954, Wermer published the first clinical description of a family with the association of pituitary tumors, hypercalcemia and pancreatic neuroendocrine tumors that is currently known as multiple endocrine neoplasia (MEN) type 1. In the following years, the associations of neuroendocrine tumors with other hereditary syndromes, such as MEN types 2A and 2B, neurofibromatosis type 1 and Von Hippel Lindau disease, were recognized. However, those reports were restricted to clinical characterizations, and it was not until the 1980s and 1990s that the genetic causes of these syndromes were elucidated. In the following decade, new clinical syndromes of familial neuroendocrine neoplasia were described, and their genetic causes were determined shortly thereafter (e.g., Carney complex, familial isolated pituitary adenoma, and MEN4, as well as PPGLs associated with LOF of the succinate dehydrogenase complex genes). In the last decade, the use of next-generation sequencing techniques has resulted in a rapid increase in the number of syndromes of hereditary endocrine neoplasms described, leading to the description of new clinical variants of known genetic entities, and to the association of new genetic defects to previously known phenotypes.

We seek innovative original scientific manuscripts and reviews analyzing the clinical phenotypes and outcomes of patients with MEN and other syndromes of familial neuroendocrine neoplasia, the genetic and molecular defects of such tumors and the novel therapeutic targets and interventions for these individuals.

Dr. Fabio R. Faucz
Dr. Laura C. Hernández-Ramírez
Guest Editors

Manuscript Submission Information

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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

multiple endocrine neoplasias
genetic and molecular defects
screening
clinical phenotypes and outcomes
therapeutic targets
interventions

Published Papers (2 papers)

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Research

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11 pages, 254 KiB

Open AccessArticle

Unique Characteristics of Patients with Von Hippel–Lindau Disease Defined by Various Diagnostic Criteria

by Reut Halperin, Liat Arnon, Yehudit Eden-Friedman and Amit Tirosh

Cancers 2023, 15(6), 1657; https://doi.org/10.3390/cancers15061657 - 08 Mar 2023

Cited by 1 | Viewed by 1292

Abstract

Von Hippel–Lindau (VHL) disease diagnosis is based on two criteria sets: International criteria (IC, two hemangioblastomas, one hemangioblastoma plus one visceral lesion, or VHL family history/pathogenic variant plus hemangioblastoma/visceral lesion); or Danish criteria (DC, two clinical manifestations, or VHL family history/pathogenic variant plus hemangioblastoma/visceral lesion). We aimed to compare the characteristics of patients with VHL-related pancreatic neuroendocrine tumor (vPNET) meeting either the clinical Danish criteria only (DOC) or IC to those with sporadic PNET (sPNET). The cohort included 33 patients with VHL (20 vPNETs) and 65 with sPNET. In terms of genetic testing and family history of VHL, 90.0% of the patients with vPNET in the IC group had a germline VHL pathogenic variant, and 70.0% had a family history of VHL vs. 20% and 10% in the DOC group, respectively (p < 0.05 for both). Patients with vPNET were younger at diagnosis compared with sPNET (51.6 ± 4.1 vs. 62.8 ± 1.5 years, p < 0.05). Patients in the IC group were younger at diagnosis with VHL, vPNET, pheochromocytoma, or paraganglioma (PPGL) and renal-cell carcinoma (RCC) than those in the DOC group (p < 0.05 for all comparisons). The most prevalent presenting manifestations were hemangioblastoma (42.8%) and PPGL (33.3%) vs. RCC (58.3%) and PNET (41.7%) in the IC vs. DOC groups. In conclusion, patients with vPNET meeting DOC criteria show greater similarity to sPNET. We suggest performing genetic testing, rather than solely using clinical criteria, for establishing the diagnosis of VHL. Full article

(This article belongs to the Special Issue New Perspectives on Multiple Endocrine Neoplasia)

Review

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23 pages, 5159 KiB

Open AccessReview

Hotspots of Somatic Genetic Variation in Pituitary Neuroendocrine Tumors

by Mariana Torres-Morán, Alexa L. Franco-Álvarez, Rosa G. Rebollar-Vega and Laura C. Hernández-Ramírez

Cancers 2023, 15(23), 5685; https://doi.org/10.3390/cancers15235685 - 01 Dec 2023

Cited by 1 | Viewed by 1101

Abstract

The most common genetic drivers of pituitary neuroendocrine tumors (PitNETs) lie within mutational hotspots, which are genomic regions where variants tend to cluster. Some of these hotspot defects are unique to PitNETs, while others are associated with additional neoplasms. Hotspot variants in GNAS and USP8 are the most common genetic causes of acromegaly and Cushing’s disease, respectively. Although it has been proposed that these genetic defects could define specific clinical phenotypes, results are highly variable among studies. In contrast, DICER1 hotspot variants are associated with a familial syndrome of cancer predisposition, and only exceptionally occur as somatic changes. A small number of non-USP8-driven corticotropinomas are due to somatic hotspot variants in USP48 or BRAF; the latter is a well-known mutational hotspot in cancer. Finally, somatic variants affecting a hotspot in SF3B1 have been associated with multiple cancers and, more recently, with prolactinomas. Since the associations of BRAF, USP48, and SF3B1 hotspot variants with PitNETs are very recent, their effects on clinical phenotypes are still unknown. Further research is required to fully define the role of these genetic defects as disease biomarkers and therapeutic targets. Full article

(This article belongs to the Special Issue New Perspectives on Multiple Endocrine Neoplasia)

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