Article
Immunology
Bingqing Shang, Chuanzhen Cao, Weixing Jiang, Hongzhe Shi, Xingang Bi, Chengxu Cui, Jianzhong Shou, Shan Zheng, Jin Zhang, Aiping Zhou, Changling Li, Jianhui Ma
Summary: Testicular sex cord stromal tumours (TSCSTs) are rare and most are benign with a good prognosis. Immunotherapy represents a promising option for improving clinical outcomes in metastatic TSCSTs.
FRONTIERS IN IMMUNOLOGY
(2022)
Review
Urology & Nephrology
Ricardo Leao, Maarten Albersen, Leendert H. J. Looijenga, Torgrim Tandstad, Christian Kollmannsberger, Matthew J. Murray, Stephane Culine, Nicholas Coleman, Gazanfer Belge, Robert J. Hamilton, Klaus-Peter Dieckmann
Summary: Circulating microRNA levels, especially miR-371a-3p, show promise for clinical use in testicular germ cell tumors, with high sensitivity and specificity in various clinical scenarios, potentially aiding in clinical decision-making.
Review
Biochemistry & Molecular Biology
Marco De Martino, Paolo Chieffi, Francesco Esposito
Summary: Testicular germ cell tumors are the leading form of solid cancer and death among males aged 20 to 40. The deregulation of miRNAs plays a key role in TGCTs, making them potential diagnostic and prognostic markers for testicular tumors.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Review
Oncology
Jane Belfield, Charlotte Findlay-Line
Summary: This article provides a detailed description of the use of ultrasound in germ cell tumours and offers guidance on performing an ultrasound examination. It also includes the classification of germ cell tumours and describes the key features of different types of tumours. The challenges and pitfalls of ultrasound are discussed, as well as other applications of ultrasound in this patient group.
Review
Oncology
Aitziber Velado-Eguskiza, Laura Gomez-Santos, Iker Badiola, Francisco Jose Saez, Edurne Alonso
Summary: Despite the high survival rate of testicular germ cell tumors, the treatment's long-term side effects significantly impact patients' quality of life, highlighting the need for research on proprotein convertases as diagnostic biomarkers and therapeutic targets.
Review
Andrology
Julian Chavarriaga, Robert J. Hamilton
Summary: Clinicians caring for patients with testicular germ cell tumour (TGCTs) are faced with clinical dilemmas and the available biomarkers lack sufficient sensitivity and specificity. Hence, a sensitive and specific biomarker is desperately needed. Serum or plasma miRNA, especially miR-371a-3p, shows great promise in distinguishing the presence of TGCT and may be a breakthrough for this disease.
Article
Reproductive Biology
A. Troisi, R. Orlandi, E. Vallesi, S. Pastore, M. Sforna, M. Quartuccio, V. Zappone, S. Cristarella, A. Polisca
Summary: A retrospective study on ovarian tumors in dogs found an incidence rate of 1.8%, with granulosa cell tumors, adenomas, and adenocarcinomas being the main types. Common clinical signs included abnormal estrus cycle, abdominal distention, palpable abdominal mass, vulvovaginal discharge, polyuria/polydipsia, and mammary masses. Ultrasound examination was useful for diagnosis, and it is proposed to perform regular reproductive system examinations from 6 years old.
Review
Biochemistry & Molecular Biology
Ana Rita Cardoso, Joao Lobo, Vera Miranda-Goncalves, Rui Henrique, Carmen Jeronimo
Summary: Testicular germ cell tumours (TGCTs) primarily affect young-adult men and some patients with disseminated disease develop resistance to cisplatin. Research is focusing on the epigenetic alterations in these tumours and their potential as therapeutic targets. Pre-clinical studies and clinical trials are exploring the use of 'epidrugs' to combat this resistance.
Article
Pathology
Lawrence M. Roth, Liang Cheng
Summary: Mixed germ cell-sex cord stromal tumours (MGC-SCSTs) of the testis and ovary differ significantly in their histological appearance, clinical behavior, and molecular genetics. Both genetic and epigenetic influences likely account for dissimilarities in these uncommon gonadal neoplasms.
Article
Pathology
Natalie M. Rizzo, Lynette M. Sholl, Chia-Sui Kao, Kristine M. Cornejo, Ankur R. Sangoi, Michelle S. Hirsch, Katrina Collins, Jennifer B. Gordetsky, Fabiola A. Reyes Curcio, Christopher D. M. Fletcher, Thomas M. Ulbright, Andres M. Acosta
Summary: This study analyzed a series of non-metastasizing and metastasizing SCTs using next-generation DNA sequencing and found that non-metastasizing SCTs were mainly driven by CTNNB1 and APC gene variants, while metastasizing SCTs were mainly caused by variants in TP53, MDM2, CDKN2A/CDKN2B, and TERT genes.
Review
Oncology
Tim Nestler, Justine Schoch, Gazanfer Belge, Klaus-Peter Dieckmann
Summary: miR371 is a more sensitive and specific biomarker for testicular germ cell cancer than conventional serum markers. It shows potential for initial diagnosis, treatment monitoring, and follow-up. However, miR371 is not expressed in teratoma. Further studies are needed to determine its importance in detecting testicular tumor recurrences and residual tumors after chemotherapy.
Article
Biochemistry & Molecular Biology
Saurav Mallik, Guimin Qin, Peilin Jia, Zhongming Zhao
Summary: A novel integrative analysis framework was developed to identify co-methylated and co-expressed genes in two subtypes of testicular germ cell tumours. Subtype-specific regulatory networks were constructed, revealing common hubs and pathways enriched in these networks, providing a comprehensive view of the molecular signatures and co-regulation in the two subtypes of TGCT.
Article
Oncology
Maximilian Klar, Helmut Plett, Philipp Harter, Florian Heitz, Stefan Kommoss, Andreas Daniel Hartkopf, Marcel Grube, Eva Roser, Jalid Sehouli, Iona Braicu, Bastian Czogalla, Alexander Burges, Michaela Bossart, Mir Fuad Hasanov, Teresa Link, Annette Staebler, Doris Mayr, Paul Buderath, Annette Hasenburg
Summary: This study aims to understand the treatment strategies and survival status of malignant sex cord-stromal cell tumors (SCST) and identify research needs. The findings show that although the recurrence rate is high, overall survival rates of SCST patients are excellent.
JOURNAL OF SURGICAL ONCOLOGY
(2023)
Review
Biochemistry & Molecular Biology
Milena Urbini, Sara Bleve, Giuseppe Schepisi, Cecilia Menna, Giorgia Gurioli, Caterina Gianni, Ugo De Giorgi
Summary: Cisplatin-based chemotherapy combinations have greatly improved the outcome of metastatic testicular germ cell tumor patients. However, predicting the prognosis of patients who relapse after first-line therapy remains complex. Molecular selection of patients and validated biomarkers are needed to improve risk stratification and identify novel therapeutic approaches.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Oncology
Mrinal K. Das, Oyvind P. Haugen, Trine B. Haugen
Summary: Testicular germ cell tumour (TGCT) is the most common cancer type among young adults in many parts of the world. MicroRNAs (miRNAs), a class of non-coding RNAs, play important roles in TGCT pathogenesis by regulating gene expression at the post-transcriptional level. They can act as either oncogenes or tumour suppressors by influencing cellular processes such as proliferation, differentiation, and apoptosis. The involvement of miRNAs in TGCT development has been supported by differential expression studies and functional studies that explore individual miRNA targets and downstream pathways. This review summarises the diverse roles and targets of miRNAs in TGCT pathogenesis.
Article
Hematology
Pierre Allard, Nareen Alhaj, Stephan Lobitz, Holger Cario, Andreas Jarisch, Regine Grosse, Lena Oevermann, Dani Hakimeh, Laura Tagliaferri, Elisabeth Kohne, Annette Kopp-Schneider, Andreas E. Kulozik, Joachim B. Kunz
Summary: This study analyzed the modifying effect of HbF-related genetic polymorphisms in 417 patients with homozygous SCD over 2 years old who received hydroxyurea, finding that certain polymorphisms were associated with increased HbF levels but did not reduce the frequency of vaso-occlusive events. Patients carrying the γ-globin promoter polymorphism may have higher hemoglobin levels and more frequent painful crises.
Article
Oncology
Stefan Schonberger, Mahsa Mir Mohseni, Jorg Ellinger, Giao Vu Quynh Tran, Martina Becker, Alexander Claviez, Carl-Friedrich Classen, Barbara Hermes, Pablo Hernaiz Driever, Norbert Jorch, Melchior Lauten, Marcus Mehlitz, Niklas Schafer, Johanna Scheer-Preiss, Dominik T. Schneider, Anja Troeger, Gabriele Calaminus, Dagmar Dilloo
Summary: This study investigated the potential of miRNAs as non-invasive diagnostic biomarkers for intracranial germ cell tumors (iGCT). The results showed that miR-371a, miR-372, miR-367, and miR-302d in both serum and cerebrospinal fluid (CSF) can distinguish iGCT patients from controls. The abundance of these miRNAs was found across all samples, including biomarker-negative patients. This suggests that miRNA analysis may be a feasible and valid approach for diagnosing iGCT, particularly in cases where traditional biomarkers are not elevated. MiRNA analysis may also be useful for differentiating iGCT from other tumors with similar radiological findings and for monitoring therapy response and early relapse.
JOURNAL OF CANCER RESEARCH AND CLINICAL ONCOLOGY
(2023)
Article
Pediatrics
Felicitas Hippert, Lena Desing, Sonja Diez, Andrea Witowski, Benedikt Bernbeck, Michael Abele, Christian Seitz, Friederike Erdmann, Ines Brecht, Dominik T. Schneider
KLINISCHE PADIATRIE
(2022)
Article
Oncology
Maximilian Gassenmaier, Narges Soltanpour, Laura Held, Gisela Metzler, Amir S. Yazdi, Ines B. Brecht, Dominik T. Schneider, Rudolf Stadler, Claus Garbe, Juergen Bauer
Summary: This study classified atypical spitzoid tumors (ASTs) based on histology and chromosomal aberrations and investigated their prognostic significance. The results indicated that all ASTs had an excellent prognosis, even in cases with worrisome morphology and chromosomal aberrations.
EUROPEAN JOURNAL OF CANCER
(2022)
Article
Oncology
Felix K. F. Kommoss, Basile Tessier-Cloutier, Leora Witkowski, Erna Forgo, Christian Koelsche, Martin Kobel, William D. Foulkes, Cheng-Han Lee, David L. Kolin, Andreas von Deimling, Brooke E. Howitt
Summary: SWI/SNF complex deficiency is common in various cancers, especially in the gynecologic tract. Despite their similar morphology, UDEC, SDUS, and SCCOHT have distinct DNA methylation signatures. Our study highlights the importance of cellular context in determining the epigenetic landscape and suggests that methylation profiling may be a useful diagnostic tool in undifferentiated, SWI/SNF-deficient cancers.
JOURNAL OF PATHOLOGY
(2022)
Editorial Material
Materials Science, Ceramics
A. H. Heuer, M. W. Finnis, W. M. C. Foulkes, A. P. Chen
Summary: This paper comments on recent observations of O and Al self-diffusion in single-crystal sapphire with variable doping concentrations of Mg and Ti. The study suggests that the null effect of aliovalent doping on oxygen diffusivity may be attributed to dopant evaporation near the surface due to extensive heat treatment, whereas an effect on Al diffusivity is still discernible. Furthermore, buffering mechanisms are proposed to be ultimately responsible for modest increases of self-diffusion with respect to dopant concentrations.
JOURNAL OF THE EUROPEAN CERAMIC SOCIETY
(2022)
Article
Pediatrics
Nicole Toepfner, Martin Alberer, Tobias Ankermann, Stephan Bender, Reinhard Berner, Jan de Laffolie, Jens Dingemann, Dirk Heinicke, Johannes Peter Haas, Markus Hufnagel, Thomas Hummel, Hans-Iko Huppertz, Markus Knuf, Robin Kobbe, Thomas Luecke, Joachim Riedel, Josef Rosenecker, Joachim Woelfle, Barbara Schneider, Dominik Schneider, Valentin Schriever, Anne Schroeder, Silvia Stojanov, Tobias Tenenbaum, Stefan Trapp, Daniel Vilser, Folke Brinkmann, Uta Behrends
Summary: This consensus paper provides a detailed overview on the clinical aspects of long COVID in children and adolescents. It offers expert-based recommendations for the clinical management of long COVID in this population, based on the currently available academic evidence. The paper includes screening questions, suggestions for medical history and diagnostic evaluation, as well as a multidisciplinary therapeutic approach.
MONATSSCHRIFT KINDERHEILKUNDE
(2022)
Article
Geriatrics & Gerontology
Nicole J. Gervais, Laura Gravelsins, Alana Brown, Rebekah Reuben, Laurice Karkaby, Elizabeth Baker-Sullivan, Leanne Mendoza, Claire Lauzon, Anne Almey, William D. Foulkes, Marcus Q. Bernardini, Michelle Jacobson, Lea Velsher, M. Natasha Rajah, Rosanna K. Olsen, Cheryl Grady, Gillian Einstein
Summary: This study found that early midlife bilateral salpingo-oophorectomy (BSO) may be associated with reduced medial temporal lobe structure and function in women, increasing the risk of dementia. Hippocampal subfield volume may be useful for identifying early midlife changes in women at elevated risk for dementia.
NEUROBIOLOGY OF AGING
(2022)
Letter
Oncology
Flavia Watusi de Faria, Elvis Terci Valera, Carla Renata Pacheco Donato Macedo, Erika Furtado Azevedo, Ana Glenda S. Vieira, Gisele E. Martins, Acimar Goncalves da Cunha Junior, Maristella Bergamo Francisco dos Reis, William D. Foulkes, Luiz Fernando Lopes
PEDIATRIC BLOOD & CANCER
(2022)
Letter
Oncology
Gunther Nussbaumer, Martin Benesch, Agnes Bokros, Ines B. Brecht, Irene Speicher, Elisabeth Suppan, Sebastian Tschauner, Christian Vokuhl, Dominik T. Schneider
PEDIATRIC BLOOD & CANCER
(2023)
Article
Oncology
Michaela Kuhlen, Marina Kunstreich, Stefan A. Wudy, Paul-Martin Holterhus, Lienhard Lessel, Dominik T. Schneider, Ines B. Brecht, Denis M. Schewe, Guido Seitz, Christoph Roecken, Christian Vokuhl, Pascal D. Johann, Michael C. Fruehwald, Peter Vorwerk, Antje Redlich
Summary: This study analyzes the clinical characteristics and prognosis of 161 pediatric ACT patients. The findings indicate that age, initial biopsy, tumor spillage, incomplete tumor resection, and unfavorable histology are associated with overall survival and event-free survival.
Article
Oncology
Michael Abele, Lisa Grabner, Tabea Blessing, Andreas Block, Abbas Agaimy, Christian Kratz, Thorsten Simon, Gabriele Calaminus, Sabine Heine, Selim Corbacioglu, Holger Christiansen, Dominik T. Schneider, Ines B. Brecht
Summary: Although gastric carcinoma is common in adults, it is exceptionally rare in children. This analysis aimed to present the characteristics and risk factors of gastric carcinoma in children and adolescents, including Helicobacter pylori infection and tumor predisposition and/or immunodeficiency. Adolescents with gastric carcinoma are often diagnosed at an advanced stage, leading to a poor prognosis and highlighting the need for new therapeutic strategies.
Review
Genetics & Heredity
Dylan Pelletier, Barbara Rivera, Marc R. Fabian, William D. Foulkes
Summary: MicroRNAs (miRNAs) are crucial for gene expression regulation, and their biogenesis depends on specific genes such as DROSHA, DGCR8, DICER1, and AGO1/2. Germline pathogenic variants (GPVs) in these genes lead to different genetic syndromes with diverse clinical manifestations. DICER1 GPVs are associated with tumor predisposition, while recent studies have shed light on the clinical consequences of GPVs in DGCR8, AGO1, and AGO2. This review provides an up-to-date summary on how GPVs in miRNA biogenesis genes affect miRNA biology and contribute to clinical manifestations.
TRENDS IN GENETICS
(2023)
Article
Biochemistry & Molecular Biology
Dylan Pelletier, Anne-Laure Chong, Mona Wu, Leora Witkowski, Sophie Albert, Nelly Sabbaghian, Marc R. Fabian, William D. Foulkes
Summary: The endoribonuclease DICER1 is crucial in microRNA biogenesis, generating mature single-stranded miRNAs by cleaving pre-miRNA stem-loops. Pathogenic variants in DICER1 result in DICER1 tumor predisposition syndrome (DTPS), a childhood-onset tumor susceptibility disorder. Germline DICER1 missense variants in the Platform domain have been found in patients with tumors associated with DTPS, which impair miRNA biogenesis by preventing DICER1 from producing mature miRNAs and binding to pre-miRNA stem-loops.
Review
Oncology
Claire Freycon, Philip J. Lupo, Leora Witkowski, Crystal Budd, William D. Foulkes, Catherine Goudie
Summary: This systematic review found that some patients with FOXO1 fusion-positive ARMS have pathogenic/likely pathogenic variants in cancer predisposing genes, but the causal relationship between CPS and FP-ARMS could not be determined. Only one patient was diagnosed with a cancer predisposition syndrome known to be associated with rhabdomyosarcoma. Clinicians cannot solely rely on FOXO1 fusion status to distinguish patients with/without CPS.
PEDIATRIC BLOOD & CANCER
(2023)