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Germ Cells and Genitourinary Cancers

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A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Pathology, Diagnostics, and Therapeutics".

Deadline for manuscript submissions: closed (30 April 2021) | Viewed by 56776

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Special Issue Editors

Dr. Marco Barchi

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Guest Editor

Department of Biomedicine and Prevention, University of Rome Tor Vergata, 00133 Rome, Italy
Interests: testicular germ cell tumors (tgcts); hormones
Special Issues, Collections and Topics in MDPI journals

Prof. Dr. Paolo Chieffi

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Guest Editor

Dipartimento di Psicologia, Università degli Studi della Campania “L. Vanvitelli”, 81100 Caserta, Italy
Interests: spermatogenesis; reproduction; hormones; testicular germ cell tumors (TGCTs); seminoma; estrogens; HHGA1/2; PATZ1
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Dr. Andrea Garolla

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Guest Editor

Unit of Andrology and Reproductive Medicine, Department of Medicine, University of Padova, Padova, Italy
Interests: andrology; reproductive endocrinology; male infertility; assisted reproduction; sexual medicine; sperm function; sexual infectious diseases
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Development of gonads (testis and ovary) is tightly regulated by the sequential expression of many genes and hormonal activity. Disturbance of this regulation by intrinsic (i.e. spontaneous genetic or epigenetic changes) or extrinsic factors (i.e. exposure to toxicants in utero) might not only prevent proper development of the gonads, but also contribute to the development of germ cell tumors (GCTs). GCTs are a histologically diverse group of neoplasms with a common origin in the stem cells of the early embryo and germ line. They included the ovarian and testicular germ cell tumors that occurs in the gonads, and tumors that occurs at extragonadal sites, along the route where primordial germ cells migrate during embryogenesis. Ovarian cancer is the seventh most common cancer in women and the most lethal disease among gynecological malignances, with five-years survival rate below 45%. Testicular tumors are the most frequent solid tumors in adolescent and young adult males with a lifetime risk of about 0.5-1% that has increased in some western countries up to three-folds. Contrary to most ovarian cancers are highly curable (over 80% of the cases) even at metastatic stage. However, for approximately 20% of patients in whom current salvage high-dose chemotherapy ultimately fails, new targeted approaches are not currently available. A better understanding of germ cells development, tumor pathogenesis and progression-related events warrant further investigation, as it will likely provide the foundations for the development of new tailored therapies for patients resistant to standard treatments.

Given the developmentally related origin of germ cell tumors, the aim of this special issue is to gather studies describing the development of germ cells in all their aspect, with particular interest in those describing the molecular mechanisms beyond germ cells alteration in utero and at postnatal age, which might impact cancerous development and progression. Moreover, studies about new molecular approaches for characterizing properties and alternative strategies for treatment of GCTs and more broadly genitourinary cancers, are of particular interest. Furthermore, considering the impact of chemotherapy on the fertility of GCTs cancer patients, investigators describing new strategies for fertility preservation in chemotherapy-treated patients are also encouraged to apply.

The articles that will be considered for publication are:

Original studies,
Reviews,
Technical advancements for tumor characterization and/or diagnosis.

Dr. Marco Barchi
Prof. Dr. Paolo Chieffi
Prof. Dr. Andrea Garolla
Guest Editors

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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. International Journal of Molecular Sciences is an international peer-reviewed open access semimonthly journal published by MDPI.

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Keywords

Meiosis
Germ cell development
Germ cell cancer
Fertility preservation
Testis
Ovary

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Germ Cells and Genitourinary Cancers 2.0 in International Journal of Molecular Sciences (2 articles)

Published Papers (14 papers)

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14 pages, 2012 KiB

Open AccessArticle

The Effects of Flavonoid Apigenin on Male Reproductive Health: Inhibition of Spermatogonial Proliferation through Downregulation of Prmt7/Akt3 Pathway

by Bingyuan Wang, Mingrui Zhang, Jiankang Guo, Zhiguo Liu, Rong Zhou, Fei Guo, Kui Li and Yulian Mu

Int. J. Mol. Sci. 2021, 22(22), 12209; https://0-doi-org.brum.beds.ac.uk/10.3390/ijms222212209 - 11 Nov 2021

Cited by 6 | Viewed by 2042

Abstract

Apigenin, a common dietary flavonoid abundantly present in a variety of fruits and vegetables, has promising anticancer properties. As an effector of apigenin in myoblasts, protein arginine methyltransferase 7 (Prmt7) is required for male germ cell development. However, whether apigenin may influence male reproductive health through Prmt7 is still unclear. To this end, mouse spermatogonia were treated with different concentrations (2.5 to 50 μM) of apigenin for 48 h, which showed that apigenin could cause reduced cell proliferation in conjunction with longer S phase and G2/M phase (with concentrations of 10 and 20 μM, respectively), and increased apoptosis of spermatogonia (with concentration of 20 μM). Reduced Prmt7 expression was found in 20 μM apigenin-treated spermatogonia. Moreover, siRNA-induced Prmt7 knockdown exhibited similar influence on spermatogonia as that of apigenin treatment. In mechanistic terms, transcriptome analysis revealed 287 differentially expressed genes between Prmt7-downregulated and control spermatogonia. Furthermore, rescue experiments suggested that the effects of apigenin on spermatogonia might be mediated through the Prmt7/Akt3 pathway. Overall, our study supports that apigenin can interfere with mouse spermatogonial proliferation by way of the downregulated Prmt7/Akt3 pathway, which demonstrates that the concentration should be taken into account in future applications of apigenin for cancer therapy of men. Full article

(This article belongs to the Special Issue Germ Cells and Genitourinary Cancers)

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19 pages, 36270 KiB

Open AccessArticle

Proper Balance of Small GTPase rab10 Is Critical for PGC Migration in Zebrafish

by Chengyu Mo, Wenjing Li, Kuntong Jia, Wei Liu and Meisheng Yi

Int. J. Mol. Sci. 2021, 22(21), 11962; https://0-doi-org.brum.beds.ac.uk/10.3390/ijms222111962 - 04 Nov 2021

Cited by 1 | Viewed by 1794

Abstract

MicroRNAs (miRNAs) play important roles in post-transcriptional repression in nearly every biological process including germ cell development. Previously, we have identified a zebrafish germ plasm-specific miRNA miR-202-5p, which regulates PGC migration through targeting cdc42se1 to protect cdc42 expression. However, knockdown of cdc42se1 could not significantly rescue PGC migration in maternal miR-202 mutant (MmiR-202) embryos, indicating that there are other target genes of miR-202-5p required for the regulation of PGC migration. Herein, we revealed the transcriptional profiles of wild type and MmiR-202 PGCs and obtained 129 differentially expressed genes (DEGs), of which 42 DEGs were enriched cell migration-related signaling pathways. From these DEGs, we identified two novel miR-202-5p target genes prdm12b and rab10. Furthermore, we found that disruption of rab10 expression led to significantly migratory defects of PGC by overexpression of rab10 siRNA, or WT, inactive as well as active forms of rab10 mRNA, and WT rab10 overexpression mediated migratory defects could be partially but significantly rescued by overexpression of miR-202-5p, demonstrating that rab10 is an important factor involved miR-202-5p mediated regulation of PGC migration. Taken together, the present results provide significant information for understanding the molecular mechanism by which miR-202-5p regulates PGC migration in zebrafish. Full article

(This article belongs to the Special Issue Germ Cells and Genitourinary Cancers)

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17 pages, 12902 KiB

Open AccessArticle

Sperm Cholesterol Content Modifies Sperm Function and TRPV1-Mediated Sperm Migration

by Luca De Toni, Iva Sabovic, Vincenzo De Filippis, Laura Acquasaliente, Daniele Peterle, Diego Guidolin, Stefania Sut, Andrea Di Nisio, Carlo Foresta and Andrea Garolla

Int. J. Mol. Sci. 2021, 22(6), 3126; https://0-doi-org.brum.beds.ac.uk/10.3390/ijms22063126 - 18 Mar 2021

Cited by 5 | Viewed by 2331

Abstract

Transient receptor potential channels-vanilloid receptor 1 (TRPV1) regulates thermotaxis in sperm-oriented motility. We investigated the role of membrane cholesterol (Chol) on TRPV1-mediated human sperm migration. Semen samples were obtained from five normozoospemic healthy volunteers. Sperm membrane Chol content, quantified by liquid chromatography-mass spectrometry, was modified by incubating cells with 2-hydroxypropyl-ß-cyclodextrin (CD) or the complex between CD and Chol (CD:Chol). The effect on sperm migration on a 10 μM capsaicin gradient (CPS), a TRPV1 agonist, was then investigated. Motility parameters were evaluated by Sperm Class Analyser. Intracellular calcium concentration and acrosome reaction were measured by staining with calcium orange and FITC-conjugated anti-CD46 antibody, respectively. TRPV1-Chol interaction was modelled by computational molecular-modelling (MM). CD and CD:Chol, respectively, reduced and increased membrane Chol content in a dose-dependent manner, resulting in a dose-dependent increase and reduction of sperm migration in a CPS gradient. MM confirmed a specific interaction of Chol with a TRPV1 domain that appeared precluded to the Chol epimer epicholesterol (Epi-Chol). Accordingly, CD:Epi-Chol was significantly less efficient than CD:Chol, in reducing sperm migration under CPS gradient. Chol inhibits TRPV1-mediated sperm function by directly interacting with a consensus sequence of the receptor. Full article

(This article belongs to the Special Issue Germ Cells and Genitourinary Cancers)

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15 pages, 3684 KiB

Open AccessArticle

Anti-Proliferative Effects of Standardized Cornus officinalis on Benign Prostatic Epithelial Cells via the PCNA/E2F1-Dependent Cell Cycle Pathway

by Bo-Ram Jin, Se-Yun Cheon, Hyo-Jung Kim, Myoung-Seok Kim, Kwang-Ho Lee and Hyo-Jin An

Int. J. Mol. Sci. 2020, 21(24), 9567; https://0-doi-org.brum.beds.ac.uk/10.3390/ijms21249567 - 15 Dec 2020

Cited by 5 | Viewed by 2510

Abstract

Cornus officinalis, widely used in traditional Chinese medicine, exhibits pharmacological effects against erectile dysfunction and pollakisuria, which are pathological symptoms of benign prostatic hyperplasia (BPH). Although traditional usage and a study on BPH have been reported, to our knowledge, no study has investigated the exact molecular mechanism(s) underlying the anti-proliferative effects of standardized C. officinalis on prostatic cells. We standardized C. officinalis 30% ethanol extract (COFE) and demonstrated the therapeutic effects of COFE on human BPH epithelial cells and testosterone-induced BPH in rats. In vitro studies using BPH-1 cells demonstrated an upregulation of BPH-related and E2F Transcription Factor 1(E2F1)-dependent cell cycle markers, whereas treatment with COFE clearly inhibited the proliferation of BPH epithelial cells and reduced the overexpression of G1 and S checkpoint genes. Additionally, COFE administration alleviated the androgen-dependent prostatic enlargement in a testosterone-induced BPH animal model. COFE exerted these anti-BPH effects by the inhibition of anti-apoptotic markers, suppression of PCNA expression, and regulation of E2F1/pRB-dependent cell cycle markers in rats with BPH. These results suggest that COFE exerts anti-proliferative effect by regulating PCNA/E2F1-dependent cell cycle signaling pathway both in vivo and in vitro. These findings reveal the therapeutic potential of COFE, which could be used as a substitute for BPH treatment. Full article

(This article belongs to the Special Issue Germ Cells and Genitourinary Cancers)

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15 pages, 3715 KiB

Open AccessArticle

Meta-Analysis of Gene Expressions in Testicular Germ Cell Tumor Histologies

by Finn Edler von Eyben and Jorge Parraga-Alava

Int. J. Mol. Sci. 2020, 21(12), 4487; https://0-doi-org.brum.beds.ac.uk/10.3390/ijms21124487 - 24 Jun 2020

Cited by 10 | Viewed by 3378

Abstract

There is no consensus as to how a precursor lesion, germ cell neoplasia in situ (GCNIS), develops into the histologic types of testicular germ cell tumor type II (TGCT). The present meta-analysis examined RNA expressions of 24 candidate genes in three datasets. They included 203 samples of normal testis (NT) and histologic types of TGCT. The Fisher’s test for combined p values was used for meta-analysis of the RNA expressions in the three datasets. The histologic types differed in RNA expression of PRAME, KIT, SOX17, NANOG, KLF4, POU5F1, RB1, DNMT3B, and LIN28A (p < 0.01). The histologic types had concordant differences in RNA expression of the genes in the three datasets. Eight genes had overlap with a high RNA expression in at least two histologic types. In contrast, only seminoma (SE) had a high RNA expression of KLF4 and only embryonal carcinoma (EC) had a high RNA expression of DNMT3B. In conclusion, the meta-analysis showed that the development of the histologic types of TGCT was driven by changes in RNA expression of candidate genes. According to the RNA expressions of the ten genes, TGCT develops from NT over GCNIS, SE, EC, to the differentiated types of TGCT. Full article

(This article belongs to the Special Issue Germ Cells and Genitourinary Cancers)

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9 pages, 1143 KiB

Open AccessArticle

HMGA1-Regulating microRNAs Let-7a and miR-26a are Downregulated in Human Seminomas

by Marco De Martino, Francesco Esposito, Simona Pellecchia, Ricardo Cortez Cardoso Penha, Gerardo Botti, Alfredo Fusco and Paolo Chieffi

Int. J. Mol. Sci. 2020, 21(8), 3014; https://0-doi-org.brum.beds.ac.uk/10.3390/ijms21083014 - 24 Apr 2020

Cited by 24 | Viewed by 2838

Abstract

Background: Recent studies have underlined HMGA protein’s key role in the onset of testicular germ cell tumors, where HMGA1 is differently expressed with respect to the state of differentiation, suggesting its fine regulation as master regulator in testicular tumorigenesis. Several studies have highlighted that the HMGA1 transcript is strictly regulated by a set of inhibitory microRNAs. Thus, the aim of this study is to test whether HMGA1 overexpression in human seminomas may be induced by the deregulation of miR-26a and Let-7a—two HMGA1-targeting microRNAs. Methods: HMGA1 mRNA and Let-7a and miR-26a levels were measured in a seminoma dataset available in the Cancer Genome Atlas database and confirmed in a subset of seminomas by qRT-PCR and western blot. A TCam-2 seminoma cell line was then transfected with Let-7a and miR-26a and tested for proliferation and motility abilities. Results: an inverse correlation was found between the expression of miR-26a and Let-7a and HMGA1 expression levels in seminomas samples, suggesting a critical role of these microRNAs in HMGA1 levels regulation. Accordingly, functional studies showed that miR-26a and Let-7a inhibited the proliferation, migration and invasion capabilities of the human seminoma derived cell line TCam-2. Conclusions: these data strongly support that the upregulation of HMGA1 levels occurring in seminoma is—at least in part—due to the downregulation of HMGA1-targeting microRNAs. Full article

(This article belongs to the Special Issue Germ Cells and Genitourinary Cancers)

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Review

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13 pages, 586 KiB

Open AccessReview

Fucosylation in Urological Cancers

by Kazutoshi Fujita, Koji Hatano, Mamoru Hashimoto, Eisuke Tomiyama, Eiji Miyoshi, Norio Nonomura and Hirotsugu Uemura

Int. J. Mol. Sci. 2021, 22(24), 13333; https://0-doi-org.brum.beds.ac.uk/10.3390/ijms222413333 - 11 Dec 2021

Cited by 7 | Viewed by 4208

Abstract

Fucosylation is an oligosaccharide modification that plays an important role in immune response and malignancy, and specific fucosyltransferases (FUTs) catalyze the three types of fucosylations: core-type, Lewis type, and H type. FUTs regulate cancer proliferation, invasiveness, and resistance to chemotherapy by modifying the glycosylation of signaling receptors. Oligosaccharides on PD-1/PD-L1 proteins are specifically fucosylated, leading to functional modifications. Expression of FUTs is upregulated in renal cell carcinoma, bladder cancer, and prostate cancer. Aberrant fucosylation in prostate-specific antigen (PSA) could be used as a novel biomarker for prostate cancer. Furthermore, elucidation of the biological function of fucosylation could result in the development of novel therapeutic targets. Further studies are needed in the field of fucosylation glycobiology in urological malignancies. Full article

(This article belongs to the Special Issue Germ Cells and Genitourinary Cancers)

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22 pages, 939 KiB

Open AccessReview

The Association of Ovarian Teratoma and Anti-N-Methyl-D-Aspartate Receptor Encephalitis: An Updated Integrative Review

by Cheng-Yang Wu, Jiann-Der Wu and Chien-Chin Chen

Int. J. Mol. Sci. 2021, 22(20), 10911; https://0-doi-org.brum.beds.ac.uk/10.3390/ijms222010911 - 09 Oct 2021

Cited by 24 | Viewed by 5772

Abstract

Ovarian teratomas are by far the most common ovarian germ cell tumor. Most teratomas are benign unless a somatic transformation occurs. The designation of teratoma refers to a neoplasm that differentiates toward somatic-type cell populations. Recent research shows a striking association between ovarian teratomas and anti-N-methyl-D-aspartate receptor (anti-NMDAR) encephalitis, a rare and understudied paraneoplastic neurological syndrome (PNS). Among teratomas, mature teratomas are thought to have a greater relevance with those neurological impairments. PNS is described as a neurologic deficit triggered by an underlying remote tumor, whereas anti-NMDAR encephalitis is characterized by a complex neuropsychiatric syndrome and the presence of autoantibodies in cerebral spinal fluid against the GluN1 subunit of the NMDAR. This review aims to summarize recent reports on the association between anti-NMDAR encephalitis and ovarian teratoma. In particular, the molecular pathway of pathogenesis and the updated mechanism and disease models would be discussed. We hope to provide an in-depth review of this issue and, therefore, to better understand its epidemiology, diagnostic approach, and treatment strategies. Full article

(This article belongs to the Special Issue Germ Cells and Genitourinary Cancers)

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13 pages, 2949 KiB

Open AccessReview

To Be or Not to Be a Germ Cell: The Extragonadal Germ Cell Tumor Paradigm

by Massimo De Felici, Francesca Gioia Klinger, Federica Campolo, Carmela Rita Balistreri, Marco Barchi and Susanna Dolci

Int. J. Mol. Sci. 2021, 22(11), 5982; https://0-doi-org.brum.beds.ac.uk/10.3390/ijms22115982 - 01 Jun 2021

Cited by 20 | Viewed by 3476

Abstract

In the human embryo, the genetic program that orchestrates germ cell specification involves the activation of epigenetic and transcriptional mechanisms that make the germline a unique cell population continuously poised between germness and pluripotency. Germ cell tumors, neoplasias originating from fetal or neonatal germ cells, maintain such dichotomy and can adopt either pluripotent features (embryonal carcinomas) or germness features (seminomas) with a wide range of phenotypes in between these histotypes. Here, we review the basic concepts of cell specification, migration and gonadal colonization of human primordial germ cells (hPGCs) highlighting the analogies of transcriptional/epigenetic programs between these two cell types. Full article

(This article belongs to the Special Issue Germ Cells and Genitourinary Cancers)

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41 pages, 2974 KiB

Open AccessReview

Mechanisms of TP53 Pathway Inactivation in Embryonic and Somatic Cells—Relevance for Understanding (Germ Cell) Tumorigenesis

by Dennis M. Timmerman, Tessa L. Remmers, Sanne Hillenius and Leendert H. J. Looijenga

Int. J. Mol. Sci. 2021, 22(10), 5377; https://0-doi-org.brum.beds.ac.uk/10.3390/ijms22105377 - 20 May 2021

Cited by 8 | Viewed by 5995

Abstract

The P53 pathway is the most important cellular pathway to maintain genomic and cellular integrity, both in embryonic and non-embryonic cells. Stress signals induce its activation, initiating autophagy or cell cycle arrest to enable DNA repair. The persistence of these signals causes either senescence or apoptosis. Over 50% of all solid tumors harbor mutations in TP53 that inactivate the pathway. The remaining cancers are suggested to harbor mutations in genes that regulate the P53 pathway such as its inhibitors Mouse Double Minute 2 and 4 (MDM2 and MDM4, respectively). Many reviews have already been dedicated to P53, MDM2, and MDM4, while this review additionally focuses on the other factors that can deregulate P53 signaling. We discuss that P14^ARF (ARF) functions as a negative regulator of MDM2, explaining the frequent loss of ARF detected in cancers. The long non-coding RNA Antisense Non-coding RNA in the INK4 Locus (ANRIL) is encoded on the same locus as ARF, inhibiting ARF expression, thus contributing to the process of tumorigenesis. Mutations in tripartite motif (TRIM) proteins deregulate P53 signaling through their ubiquitin ligase activity. Several microRNAs (miRNAs) inactivate the P53 pathway through inhibition of translation. CCCTC-binding factor (CTCF) maintains an open chromatin structure at the TP53 locus, explaining its inactivation of CTCF during tumorigenesis. P21, a downstream effector of P53, has been found to be deregulated in different tumor types. This review provides a comprehensive overview of these factors that are known to deregulate the P53 pathway in both somatic and embryonic cells, as well as their malignant counterparts (i.e., somatic and germ cell tumors). It provides insights into which aspects still need to be unraveled to grasp their contribution to tumorigenesis, putatively leading to novel targets for effective cancer therapies. Full article

(This article belongs to the Special Issue Germ Cells and Genitourinary Cancers)

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11 pages, 577 KiB

Open AccessReview

Vitamin D Deficiency in Testicular Cancer Survivors: A Systematic Review

by Giuseppe Schepisi, Caterina Gianni, Sara Bleve, Silvia De Padova, Cecilia Menna, Cristian Lolli, Alessia Filograna, Vincenza Conteduca, Milena Urbini, Valentina Gallà, Chiara Casadei, Giovanni Rosti and Ugo De Giorgi

Int. J. Mol. Sci. 2021, 22(10), 5145; https://0-doi-org.brum.beds.ac.uk/10.3390/ijms22105145 - 13 May 2021

Cited by 2 | Viewed by 2335

Abstract

Testicular cancer (TC) is the most frequent tumor in young males. In the vast majority of cases, it is a curable disease; therefore, very often patients experience a long survival, also due to their young age at diagnosis. In the last decades, the role of the vitamin D deficiency related to orchiectomy has become an increasingly debated topic. Indeed, vitamin D is essential in bone metabolism and many other metabolic pathways, so its deficiency could lead to various metabolic disorders especially in long-term TC survivors. In our article, we report data from studies that evaluated the incidence of hypovitaminosis D in TC survivors compared with cohorts of healthy peers and we discuss molecular mechanisms and clinical implications. Full article

(This article belongs to the Special Issue Germ Cells and Genitourinary Cancers)

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17 pages, 1382 KiB

Open AccessReview

Female Germ Cell Development, Functioning and Associated Adversities under Unfavorable Circumstances

by Dinesh Bharti, Manisha Tikka, Sang-Yun Lee, Eun-Yeong Bok, Hyeon-Jeong Lee and Gyu-Jin Rho

Int. J. Mol. Sci. 2021, 22(4), 1979; https://0-doi-org.brum.beds.ac.uk/10.3390/ijms22041979 - 17 Feb 2021

Cited by 2 | Viewed by 2918

Abstract

In the present era, infertility is one of the major issues which restricts many couples to have their own children. Infertility is the inability to achieve a clinical pregnancy after regular unprotected sexual intercourse for the period of one year or more. Various factors including defective male or female germ cell development, unhealthy and improper lifestyles, diseases like cancer and associated chemo-or-radiation therapies, congenital disorders, etc., may be responsible for infertility. Therefore, it is highly important to understand the basic concepts of germ cell development including primordial germ cell (PGC) formation, specification, migration, entry to genital ridges and their molecular mechanisms, activated pathways, paracrine and autocrine signaling, along with possible alteration which can hamper germ cell development and can cause adversities like cancer progression and infertility. Knowing all these aspects in a proper way can be very much helpful in improving our understanding about gametogenesis and finding possible ways to cure related disorders. Here in this review, various aspects of gametogenesis especially female gametes and relevant factors causing functional impairment have been thoroughly discussed. Full article

(This article belongs to the Special Issue Germ Cells and Genitourinary Cancers)

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11 pages, 572 KiB

Open AccessReview

miRNAs and Biomarkers in Testicular Germ Cell Tumors: An Update

by Marco De Martino, Paolo Chieffi and Francesco Esposito

Int. J. Mol. Sci. 2021, 22(3), 1380; https://0-doi-org.brum.beds.ac.uk/10.3390/ijms22031380 - 30 Jan 2021

Cited by 17 | Viewed by 3635

Abstract

Testicular germ cell tumors (TGCTs) are the leading form of solid cancer and death affecting males between the ages of 20 and 40. Today, their surgical resection and chemotherapy are the treatments of first choice, even if sometimes this is not enough to save the lives of patients with TGCT. As seen for several tumors, the deregulation of microRNAs (miRNAs) is also a key feature in TGCTs. miRNAs are small molecules of RNA with biological activity that are released into biological fluids by testicular cancer cells. Their presence, therefore, can be detected and monitored by considering miRNAs as diagnostic and prognostic markers for TGCTs. The purpose of this review is to collect all the studies executed on miRNAs that have a potential role as biomarkers for testicular tumors. Full article

(This article belongs to the Special Issue Germ Cells and Genitourinary Cancers)

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21 pages, 6057 KiB

Open AccessReview

Lynch Syndrome: Its Impact on Urothelial Carcinoma

by Andrea Katharina Lindner, Gert Schachtner, Gennadi Tulchiner, Martin Thurnher, Gerold Untergasser, Peter Obrist, Iris Pipp, Fabian Steinkohl, Wolfgang Horninger, Zoran Culig and Renate Pichler

Int. J. Mol. Sci. 2021, 22(2), 531; https://0-doi-org.brum.beds.ac.uk/10.3390/ijms22020531 - 07 Jan 2021

Cited by 20 | Viewed by 11064

Abstract

Lynch syndrome, known as hereditary nonpolyposis colorectal cancer (HNPCC), is an autosomal-dominant familial cancer syndrome with an increased risk for urothelial cancer (UC). Mismatch repair (MMR) deficiency, due to pathogenic variants in MLH1, MSH2, MSH6, and PMS2, and microsatellite instability, are known for development of Lynch syndrome (LS) associated carcinogenesis. UC is the third most common cancer type in LS-associated tumors. The diversity of germline variants in the affected MMR genes and their following subsequent function loss might be responsible for the variation in cancer risk, suggesting an increased risk of developing UC in MSH2 mutation carriers. In this review, we will focus on LS-associated UC of the upper urinary tract (UUT) and bladder, their germline profiles, and outcomes compared to sporadic UC, the impact of genetic testing, as well as urological follow-up strategies in LS. In addition, we present a case of metastatic LS-associated UC of the UUT and bladder, achieving complete response during checkpoint inhibition since more than 2 years. Full article

(This article belongs to the Special Issue Germ Cells and Genitourinary Cancers)

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