Article
Oncology
Felipe Luz Torres Silva, Juliana Silveira Ruas, Mayara Ferreira Euzebio, Iva Loureiro Hoffmann, Thais Junqueira, Helder Tedeschi, Luiz Henrique Pereira, Alejandro Enzo Cassone, Izilda Aparecida Cardinalli, Ana Luiza Seidinger, Patricia Yoshioka Jotta, Mariana Maschietto
Summary: In embryonic tumors, the methylation status of the 11p15 region may undergo LOI via gain or loss of DNA methylation at ICR1 and/or ICR2, leading to an increased risk of developing embryonic tumors, including Beckwith-Wiedmann syndrome.
Article
Oncology
Beyhan Tuysuz, Serdar Bozlak, Dilek Uludag Alkaya, Suheyla Ocak, Busra Kasap, Evrim Sunamak Cifci, Ali Seker, Ilhan Avni Bayhan, Hilmi Apak
Summary: This study investigated the epigenetic alterations on chromosome 11p15.5 and tumor risk in patients with lateralized overgrowth. Patients were classified into isolated, atypical, and classic phenotypes. It was found that tumor risk can still exist even if epigenetic tests are negative.
Article
Oncology
Daniel J. Benedetti, Carly R. Varela, Lindsay A. Renfro, Brett Tornwall, David B. Dix, Peter F. Ehrlich, Richard D. Glick, John Kalapurakal, Elizabeth Perlman, Eric Gratias, Nita L. Seibel, James I. Geller, Geetika Khanna, Marcio Malogolowkin, Paul Grundy, Conrad V. Fernandez, Jeffrey S. Dome, Elizabeth A. Mullen
Summary: Pooled outcomes across three studies of patients with favorable histology Wilms tumor and extrapulmonary metastases revealed 4-year event-free survival of 77.3% and overall survival of 88.9%, with no statistical differences seen between patients on AREN0533 compared with those on NWTS-5. Missing details on local management of metastatic sites informs a critical need for better data capture in future studies to optimize local control strategies and chemotherapy regimens for this higher-risk favorable histology Wilms tumor patient group.
Article
Chemistry, Organic
Wanzhu Zhao, Guangfei Wang, Lin Guo, Jingmin Wang, Congcong Jing, Ben Liu, Feng Zhao, Shumin Zhang, Zeping Xie
Summary: Three novel actinomycins, actimomycin S (1), neo-actinomycins C and D (2 and 3), and one new benzo[d]oxazole alkaloid (4) were isolated from the Streptomyces sp. strain S22. The structures of the new products were determined by spectroscopic methods, and the absolute configuration of amino acid residues was determined by Marfey's analysis. Actinomycins 1-3 exhibited antimicrobial activity against multiple resistant ESKAPE pathogens and showed potent cytotoxic activities against the HepG2 liver carcinoma cell line.
ORGANIC & BIOMOLECULAR CHEMISTRY
(2023)
Article
Endocrinology & Metabolism
Emilia Modolo Pinto, Carlos Rodriguez-Galindo, Catherine G. Lam, Robert E. Ruiz, Gerard P. Zambetti, Raul C. Ribeiro
Summary: Pediatric adrenocortical tumors (ACTs) are rare and heterogeneous, with approximately 50% of cases carrying a germline TP53 variant. This study reports on children with ACT who have wild type TP53 and germline paternal 11p15 UPD, showing long-term survival despite poor prognostic features.
FRONTIERS IN ENDOCRINOLOGY
(2021)
Article
Plant Sciences
Kafilat Abiodun Odesola, Odunayo Joseph Olawuyi, Rajneesh Paliwal, Olaniyi Ajewole Oyatomi, Michael T. T. Abberton
Summary: This study reveals the associations between sequencing-based diversity array technology (DArTseq) and phenotypic character as well as differing indices related to drought tolerance in 100 accessions of Bambara groundnut. The genome wide association study predicts drought tolerance in Bambara accessions and identifies quantitative trait loci (QTLs) that could be useful in marker-assisted selection in drought molecular breeding programs. The selected drought-tolerant accessions could be used for hybridization breeding.
FRONTIERS IN PLANT SCIENCE
(2023)
Article
Chemistry, Multidisciplinary
Astgik Petrosyan, Valentina Villani, Paola Aguiari, Matthew E. Thornton, Yizhou Wang, Alex Rajewski, Shengmei Zhou, Paolo Cravedi, Brendan H. Grubbs, Roger E. De Filippo, Sargis Sedrakyan, Kevin V. Lemley, Marie Csete, Stefano Da Sacco, Laura Perin
Summary: A nephrogenic progenitor cell (NP) with cancer stem cell characteristics driving Wilms tumor (WT) is identified and characterized using spatial transcriptomics, bulk and single cell RNA sequencing, and complementary in vitro and transplantation experiments. Comparative analysis between NP from WT samples and NP from the developing human kidney reveals that cells expressing SIX2 and CITED1 fulfill cancer stem cell criteria by reliably recapitulating WT in transplantation studies. The interplay between integrins ITG beta 1 and ITG beta 4 regulates self-renewal versus differentiation in SIX2+CITED1+ cells. Spatial transcriptomic analysis defines gene expression maps and identifies interactive gene networks involved in WT development, pointing to the renal developmental transcriptome changes as a possible driver in regulating WT formation and progression.
Article
Oncology
Janna A. Hol, Marjolijn C. J. Jongmans, Helene Sudour-Bonnange, Gema L. Ramirez-Villar, Tanzina Chowdhury, Catherine Rechnitzer, Niklas Pal, Gudrun Schleiermacher, Axel Karow, Roland P. Kuiper, Beatriz de Camargo, Simona Avcin, Danka Redzic, Antonio Wachtel, Heidi Segers, Gordan M. Vujanic, Harm van Tinteren, Christophe Bergeron, Kathy Pritchard-Jones, Norbert Graf, Marry M. van den Heuvel-Eibrink
Summary: WAGR syndrome is a rare genetic condition with an increased risk of developing Wilms tumor. Patients with WAGR and Wilms tumor can be treated according to existing protocols, but monitoring of treatment complications and surveillance of the remaining kidney(s) are advised for optimal outcomes.
Article
Cell Biology
Huili Xue, Xuemei Chen, Min Lin, Na Lin, Hailong Huang, Aili Yu, Liangpu Xu
Summary: Three fetuses with de novo marker chromosomes were identified using molecular cytogenetic techniques, revealing that specifying the origin, size, and gene content of marker chromosomes can aid decision-making and prognostic assessment.
Article
Radiology, Nuclear Medicine & Medical Imaging
Justine N. van der Beek, Tom A. Watson, Rutger A. J. Nievelstein, Herve J. Brisse, Carlo Morosi, Henrique M. Lederman, Ana Coma, Maria M. Gavra, Kristina Vult von Steyern, Karoly Lakatos, Luc Breysem, Edit Varga, Hubert Ducou Le Pointe, Maarten H. Lequin, Jurgen F. Schaefer, Hans-Joachim Mentzel, Andreas M. Hotker, Giuseppina Calareso, Sophie Swinson, Martin Kyncl, Claudio Granata, Michael Aertsen, Pier Luigi Di Paolo, Ronald R. de Krijger, Norbert Graf, Oystein E. Olsen, Jens-Peter Schenk, Marry M. Van den Heuvel-Eibrink, Annemieke S. Littooij
Summary: The study aimed to identify MRI characteristics for discriminating pediatric renal tumors, finding that MRI can help distinguish different lesions, such as Wilms tumors and non-Wilms tumors, as well as nephrogenic rests or nephroblastomatosis.
JOURNAL OF MAGNETIC RESONANCE IMAGING
(2022)
Article
Biotechnology & Applied Microbiology
Jiaju Xu, Ying Hao, Xingjuan Gao, Yanqiu Wu, Yanjie Ding, Baohong Wang
Summary: The dysregulation of circSLC7A6 promotes the progression of Wilms' tumor by upregulating ABL2 expression through inhibiting miR-107 expression.
Article
Biochemistry & Molecular Biology
Igor N. Lebedev, Tatyana Karamysheva, Eugeny A. Elisaphenko, Alexey Makunin, Daria Zhigalina, Maria E. Lopatkina, Gleb Drozdov, Aleksander D. Cheremnykh, Natalia B. Torkhova, Gulnara N. Seitova, Stanislav A. Vasilyev, Anna A. Kashevarova, Ludmila P. Nazarenko, Nikolay B. Rubtsov
Summary: The case study presented a prenatal diagnosis of a foetus with mosaic sSMC(10) and identified a ring structure derived from chromosome 10 with specific regions involved. Despite the presence of a 9 Mb euchromatin region, the sSMC did not result in clinical manifestations and a healthy girl was born. The study suggests that the ring structure of sSMCs could influence their manifestations and should be considered in genetic counselling during prenatal diagnosis.
Review
Biochemistry & Molecular Biology
Masaru Ueno
Summary: The regulation of telomere length is important for cancer risk and aging. Fission yeast is a good model for studying circular chromosomes, and the deletion of pot1 leads to rapid telomere degradation and chromosome fusion. Exploring genes that interact with pot1 helps to uncover new genes and functions related to telomere and circular chromosome maintenance.
Article
Biochemical Research Methods
Yucheng Wang, Tyler J. Gorrie-Stone, Olivia A. Grant, Alexandria D. Andrayas, Xiaojun Zhai, Klaus D. McDonald-Maier, Leonard C. Schalkwyk
Summary: This article presents a new two-step strategy to address the bias issue in normalizing sex chromosome data, and proposes a concept to quantitatively measure the normalization effect. The method can be applied to all quantile-based and non-quantile-based normalization methods, as well as other array-based data types.
Review
Oncology
Alissa Groenendijk, Filippo Spreafico, Ronald R. de Krijger, Jarno Drost, Jesper Brok, Daniela Perotti, Harm van Tinteren, Rajkumar Venkatramani, Christian Rube, James Geller, Norbert Graf, Marry M. Van den Heuvel-Eibrink, Annelies M. C. Mavinkurve-Groothuis, Jan Godzinski
Summary: In high-income countries, 90% of children with Wilms tumors survive, but 15% may experience tumor recurrence. Identifying patients at risk of recurrence is crucial for adjusting treatment. Factors influencing recurrence range from patient, tumor, and treatment characteristics to geographic and socioeconomic factors. Further research on biological markers, like genetic alterations, is needed to better identify patients at risk of tumor recurrence.
Letter
Genetics & Heredity
Giovanni Innella, Emanuela Scarano, Pietro Palumbo, Massimo Carella, Giulia Severi
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2023)
Review
Oncology
Nils Welter, Jack Brzezinski, Amy Treece, Murali Chintagumpala, Matthew D. Young, Daniela Perotti, Kathleen Kieran, Marjolijn C. J. Jongmans, Andrew J. Murphy
Summary: Approximately 5% of Wilms tumor patients have synchronous bilateral disease, indicating a genetic or epigenetic predisposition. This review article focuses on the genetic and epigenetic factors related to the development of synchronous bilateral Wilms tumor, with emphasis on alterations in 11p15.5 and specific genes like WT1, TRIM28, and REST. The article also identifies priority areas for international collaborative research to better understand the relationship between genetic or epigenetic factors and chemotherapy response, oncologic outcomes, and long-term renal function.
PEDIATRIC BLOOD & CANCER
(2023)
Article
Oncology
Luca Bergamaschi, Stefano Chiaravalli, Virginia Livellara, Giovanna Sironi, Nadia Puma, Olga Nigro, Giovanna Gattuso, Roberto Luksch, Monica Terenziani, Filippo Spreafico, Cristina Meazza, Marta Podda, Veronica Biassoni, Elisabetta Schiavello, Shushan Hovsepyan, Carlo Morosi, Sabina Vennarini, Maura Massimino, Michela Casanova, Andrea Ferrari
Summary: This study retrospectively analyzed the treatment of relapsing rhabdomyosarcoma patients and found that the survival rate after the first relapse is poor. Several factors were found to influence survival rates, and these factors can be used in a risk-adapted model to guide decisions for second-line treatments.
PEDIATRIC BLOOD & CANCER
(2023)
Article
Oncology
Patrizia Gasparini, Michela Casanova, Giovanni Centonze, Cristina Borzi, Luca Bergamaschi, Paola Collini, Adele Testi, Stefano Chiaravalli, Maura Massimino, Gabriella Sozzi, Andrea Ferrari, Massimo Moro
Summary: This study established a series of pediatric RMS patient derived xenografts (PDXs) that closely mirrored the characteristics of the primary tumors. The grafting rate was higher for patients with worse prognosis. These PDX models serve as important tools for identifying potential treatments and developing personalized therapies.
Article
Oncology
Cristina Meazza, Sironi Giovanna, Olga Nigro, Giovanna Gattuso, Barretta Francesco, Marta Podda, Roberto Luksch, Veronica Biassoni, Elisabetta Schiavello, Andrea Ferrari, Filippo Spreafico, Michela Casanova, Stefano Chiaravalli, Nadia Puma, Luca Bergamaschi, Virginia Livellara, Morosi Carlo, Antonina Parafioriti, Primo Daolio, Stefano Bastoni, Sabina Vennarini, Emilia Pecori, Ombretta Alessandro, Paola Collini, Maura Massimino, Monica Terenziani
Summary: This study examines the clinical characteristics and outcomes of patients with secondary osteosarcoma (SOS). The results show that the survival rates after SOS are lower than in patients with primary osteosarcoma but not negligible. Therefore, the best choice of treatment for such patients should be discussed at a referral center in terms of their chances of cure and quality of life.
INTERNATIONAL JOURNAL OF CLINICAL ONCOLOGY
(2023)
Article
Oncology
Monica Terenziani, Francesco Barretta, Giovanna Gattuso, Gianni Bisogno, Massimo Conte, Alessandro Crocoli, Maria Debora De Pasquale, Davide Biasoni, Filippo Spreafico, Paolo D'Angelo
Summary: This study retrospectively investigated the site and detection method of relapses in children and adolescents with malignant germ cell tumors. It found that serum tumor markers identified a relapse in over 70% of cases, and according to the selection criteria published by Children Oncology Group in 2018, in over 90% of cases. These results highlight the importance of serum tumor markers as a relapse detection method, which could potentially reduce the need for radiology exams in specific subgroups.
PEDIATRIC BLOOD & CANCER
(2023)
Correction
Oncology
J. Y. Blay, N. Hindi, J. Bollard, S. Aguiar Jr, M. Angel, B. Araya, R. Badilla, D. Bernabeu, F. Campos, C. H. S. Caro-Sanchez, B. Carvajal, A. Carvajal Montoya, S. Casavilca-Zambrano, V. Castro-Oliden, M. Chacon, M. Clara, P. Collini, R. Correa Genoroso, F. D. Costa, M. Cuellar, A. P. dei Tos, H. R. Dominguez Malagon, D. Donati, A. Dufresne, M. Eriksson, M. Farias-Loza, P. Fernandez, A. M. Frezza, T. Frisoni, D. Y. Garcia-Ortega, H. Gelderblom, F. Gouin, M. C. Gómez-Mateo, A. Gronchi, J. Haro, L. Huanca, N. Jimenez, M. Karanian, B. Kasper, B. B. Lopes David, A. Lopez-Pousa, G. Lutter, H. Martinez-Said, J. Martinez-Tlahuel, C. A. Mello, J. M. Morales Perez, S. Moura David, A. G. Nascimento, E. J. Ortiz-Cruz, E. Palmerini, S. Patel, Y. Pfluger, S. Provenzano, A. Righi, A. Rodriguez, R. Salas, T. T. G. Santos, K. Scotlandi, T. Soule, S. Stacchiotti, C. Valverde, F. Waisberg, E. Zamora Estrada, J. Martin-Broto
CANCER TREATMENT REVIEWS
(2023)
Article
Cell Biology
Valentina Zuco, Sandro Pasquali, Monica Tortoreto, Stefano Percio, Valentina Doldi, Marta Barisella, Paola Collini, Gian Paolo Dagrada, Silvia Brich, Patrizia Gasparini, Marco Fiore, Michela Casanova, Anna Maria Frezza, Alessandro Gronchi, Silvia Stacchiotti, Andrea Ferrari, Nadia Zaffaroni
Summary: This study used a patient-derived xenograft (PDX) model to evaluate the effectiveness of different drugs against desmoplastic small round cell tumor (DSRCT). It was found that doxorubicin, pazopanib, and larotrectenib had moderate antitumor effects, while trabectedin had higher activity. Vinorelbine, irinotecan, and eribulin achieved nearly complete tumor growth inhibition. The combination of irinotecan with either eribulin or trabectedin resulted in complete responses. This study highlights the importance of patient-derived preclinical models in exploring new treatments for DSRCT.
DISEASE MODELS & MECHANISMS
(2023)
Article
Biochemistry & Molecular Biology
Michele Fiore, Alberto Taddia, Valentina Indio, Salvatore Nicola Bertuccio, Daria Messelodi, Salvatore Serravalle, Jessica Bandini, Filippo Spreafico, Daniela Perotti, Paola Collini, Andrea Di Cataldo, Gianandrea Pasquinelli, Francesca Chiarini, Maura Fois, Fraia Melchionda, Andrea Pession, Annalisa Astolfi
Summary: Clear cell sarcoma of the kidney (CCSK) is a rare pediatric renal tumor with worse prognosis than Wilms' tumor. This study aims to investigate the molecular differences between metastatic and localized BCOR-ITD-positive CCSK at diagnosis. The findings suggest that metastatic CCSKs have an overexpression of genes related to the MAPK signaling pathway, and FGF3 may play a role in the acquisition of a more aggressive phenotype.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Editorial Material
Oncology
Marta G. Podda, Cristina Meazza, Giovanna Gattuso, Giovanna Sironi, Olga Nigro, Luca Bergamaschi, Veronica Biassoni, Michela Casanova, Stefano Chiaravalli, Andrea Ferrari, Roberto Luksch, Nadia Puma, Elisabetta Schiavello, Filippo Spreafico, Paolo Grampa, Siranoush Manoukian, Sabina Vennarini, Paola Collini, Primo A. Daolio, Massimiliano Gennaro, Marco Guzzo, Carlo Morosi, Davide Biasoni, Maura Massimino, Monica Terenziani
Summary: Each year, around 35,000 children and adolescents in Europe are diagnosed with cancer. Survival rates have increased to 80% in most European countries, thanks to chemotherapy, radiotherapy, and surgery. However, cancer survivors in childhood and adolescence face the risk of developing chronic health conditions and even second malignant neoplasms later in life. It is crucial to discuss potential problems early on and provide specialized care for these survivors.
Article
Oncology
Claudia Giani, Stefano Radaelli, Rosalba Miceli, Lorenza Gandola, Claudia Sangalli, Anna Maria Frezza, Salvatore Provenzano, Sandro Pasquali, Rossella Bertulli, Marco Fiore, Dario Callegaro, Michela Casanova, Stefano Chiaravalli, Paola Collini, Gian Paolo Dagrada, Carlo Morosi, Nadia Zaffaroni, Paolo G. Casali, Andrea Ferrari, Alessandro Gronchi, Silvia Stacchiotti
Summary: A retrospective study on primary DSRCT was conducted to characterize long-term survivors (LTS). It was found that 13% of patients achieved cure, who had no liver or extra-abdominal metastasis at diagnosis, received complete surgery, and possibly underwent whole abdomino-pelvic radiotherapy (WAP-RT) and maintenance chemotherapy (MC).
Article
Oncology
Francesco Cecere, Laura Pignata, Bruno Hay Mele, Abu Saadat, Emilia D'Angelo, Orazio Palumbo, Pietro Palumbo, Massimo Carella, Gioacchino Scarano, Giovanni Battista Rossi, Claudia Angelini, Angela Sparago, Flavia Cerrato, Andrea Riccio
Summary: This study reports a case of early-onset colorectal cancer (EO-CRC) in a 27-year-old woman with Beckwith-Wiedemann syndrome (BWSp). Genetic and epigenetic analysis revealed the presence of genetic and epigenetic variations that may be associated with the development of EO-CRC.
Article
Oncology
Alberto Visioli, Nadia Trivieri, Gandino Mencarelli, Fabrizio Giani, Massimiliano Copetti, Orazio Palumbo, Riccardo Pracella, Maria Grazia Cariglia, Chiara Barile, Luigi Mischitelli, Amata Amy Soriano, Pietro Palumbo, Federico Legnani, Francesco Dimeco, Leonardo Gorgoglione, Graziano Pesole, Angelo L. Vescovi, Elena Binda
Summary: This study demonstrates that distinct pools of GSCs enrich the functional inter-cluster variances in GBM patients. Two novel functional biomarkers that selectively represent GSCs pools were identified, capable of discriminating GBM patient stratification, survival, and drug response. These findings provide the groundwork for personalized diagnostic and prognostic strategies, as well as patient-selective treatment protocols.
JOURNAL OF EXPERIMENTAL & CLINICAL CANCER RESEARCH
(2023)
Article
Health Care Sciences & Services
Andrea Piccinini, Paolo Bailo, Giussy Barbara, Monica Miozzo, Silvia Tabano, Patrizia Colapietro, Claudia Fare, Silvia Maria Sirchia, Elena Battaglioli, Paola Bertuccio, Giulia Manenti, Laila Micci, Carlo La Vecchia, Alessandra Kustermann, Simona Gaudi
Summary: Violence against women has negative consequences on their health. The EpiWE project aims to investigate the epigenetic signatures associated with intimate partner and sexual violence-induced stress-related disorders. The study found abnormal methylation levels of brain-derived neurotrophic factor, dopamine receptor D2, and insulin-like growth factor 2 genes in victims, indicating potential molecular pathways for addressing the long-term effects of violence and implementing precision medicine protocols.
