Article
Oncology
Kelvin Cesar de Andrade, Payal P. Khincha, Jessica N. Hatton, Megan N. Frone, Talia Wegman-Ostrosky, Phuong L. Mai, Ana F. Best, Sharon A. Savage
Summary: Li-Fraumeni syndrome is associated with significantly higher cancer incidence, especially in the childhood to 30 years age group. The probability of a first diagnosis of a non-breast cancer malignancy is substantially lower than that of any first cancer in female patients. Some individuals experience multiple cancers diagnosed within a short timeframe.
Article
Oncology
Emilia Rogoza-Janiszewska, Karolina Malinska, Bohdan Gorski, Rodney J. Scott, Cezary Cybulski, Wojciech Kluzniak, Marcin Lener, Anna Jakubowska, Jacek Gronwald, Tomasz Huzarski, Jan Lubinski, Tadeusz Debniak
Summary: This study found pathogenic TP53 variants in 4% of early-onset Polish BC patients, with no founder mutations identified in the Polish population. It is recommended to search for germline TP53 pathogenic variants in all female BC cases diagnosed at or below the age of 30 to improve treatment and surveillance screening.
Article
Biochemistry & Molecular Biology
Panwen Tian, Xiaoyan Zhang, Sheng Yang, Yu Fang, Hongling Yuan, Wei Li, Honglin Zhu, Fangping Zhao, Jinlei Ding, Yunshu Zhu, Sizhen Wang, Guochen Sun, Hongbin Ni, Tonghui Ma, Ting Lei
Summary: This study retrospectively investigates P/LP TP53 germline variants (GV) among Chinese cancer patients and finds that patients with P/LP TP53 GV are mainly male and have a significantly lower median age of diagnosis compared to non-P/LP TP53 GV patients. The study also identifies one LFS patient and three LFL patients among the followed-up P/LP TP53 GV patients. Additionally, several TP53 variants are identified for the first time in Chinese LFS/LFL patients.
JOURNAL OF GENETICS AND GENOMICS
(2022)
Article
Genetics & Heredity
Francesco Paduano, Fernanda Fabiani, Emma Colao, Francesco Trapasso, Nicola Perrotti, Vito Barbieri, Francesco Baudi, Rodolfo Iuliano
Summary: Li-Fraumeni syndrome is an inherited autosomal dominant disease associated with a predisposition to multiple cancers. A novel heterozygous frameshift variant in the TP53 gene was identified in a proband with liver carcinoma, indicating a pathogenic role of this previously undescribed variant in typical LFS cancers.
FRONTIERS IN GENETICS
(2021)
Article
Obstetrics & Gynecology
Sabine Grill, Juliane Ramser, Heide Hellebrand, Nicole Pfarr, Melanie Boxberg, Christine Brambs, Nina Ditsch, Alfons Meindl, Eva Gross, Thomas Meitinger, Marion Kiechle, Anne S. Quante
Summary: TP53germline mutations are rarely reported in the context of hereditary breast and ovarian cancer (HBOC). Through next-generation sequencing on 1876 breast cancer patients, it was found that (likely) pathogenic variants in the TP53 gene were present in 0.6% of the cohort, with higher occurrence in early-onset breast cancer and bilateral cases. Among the HBOC families, a clinical subgroup distinct from classic LFS families was identified, leading to potential for individualized screening efforts.
ARCHIVES OF GYNECOLOGY AND OBSTETRICS
(2021)
Article
Multidisciplinary Sciences
Nicholas Light, Mehdi Layeghifard, Ayush Attery, Vallijah Subasri, Matthew Zatzman, Nathaniel D. D. Anderson, Rupal Hatkar, Sasha Blay, David Chen, Ana Novokmet, Fabio Fuligni, James Tran, Richard de Borja, Himanshi Agarwal, Larissa Waldman, Lisa M. M. Abegglen, Daniel Albertson, Jonathan L. L. Finlay, Jordan R. R. Hansford, Sam Behjati, Anita Villani, Moritz Gerstung, Ludmil B. B. Alexandrov, Gino R. R. Somers, Joshua D. D. Schiffman, Varda Rotter, David Malkin, Adam Shlien
Summary: Li-Fraumeni syndrome (LFS) is associated with pathogenic germline TP53 variants and predisposes patients to cancer. The authors analyzed 22 LFS tumors using whole-genome sequencing and reconstructed the evolution and timing of somatic driver alterations.
NATURE COMMUNICATIONS
(2023)
Article
Oncology
Renata Lazari Sandoval, Natalia Polidorio, Ana Carolina Rathsam Leite, Mariana Cartaxo, Janina Pontes Pisani, Carla Vanessa Quirino, Loureno Cezana, Natalya Goncalves Pereira, Allan Andresson Lima Pereira, Benedito Mauro Rossi, Maria Isabel Achatz
Summary: The phenotype of breast cancer in Brazilian female carriers of Li-Fraumeni syndrome, particularly those with the TP53 p.R337H variant, is similar to that of carriers with other TP53 pathogenic variants. The age at onset of the disease is older than the general population but still relatively young compared to other breast cancer cases.
FRONTIERS IN ONCOLOGY
(2022)
Article
Oncology
Yanong Li, Hailong Liu, Tandy Li, Jin Feng, Yanjiao He, Li Chen, Chunde Li, Xiaoguang Qiu
Summary: This study retrospectively analyzed the management strategies of 12 cases of choroid plexus carcinomas (CPCs), finding that patients with TP53 germline mutations who underwent gross total resection (GTR) without radiotherapy had a significant survival advantage.
FRONTIERS IN ONCOLOGY
(2021)
Review
Oncology
Nicholas W. Fischer, Yu-Heng Vivian Ma, Jean Gariepy
Summary: The expansion of human genomics repositories has led to the discovery of new TP53 variants in different ethnic populations, presenting a challenge in interpreting their clinical significance. This study explores the relationship between germline TP53 mutations and cancer risk by analyzing genotype-phenotype studies and integrating functional and sequencing data. The findings reveal distinct TP53 variant landscapes specific to different ethnic groups, including suspected low-penetrance alleles with unique functional consequences. The study emphasizes the importance of understanding TP53 variants in improving cancer risk assessments and personalized therapy.
JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE
(2023)
Article
Multidisciplinary Sciences
Henriett Butz, Aniko Bozsik, Vince Grolmusz, Erika Szocs, Janos Papp, Attila Patocs
Summary: The interpretation of TP53 variants is challenging, especially in patients with attenuated LFS. A study in the Hungarian population of cancer patients found a high prevalence of pathogenic/likely pathogenic TP53 variants. The study highlights the importance of focused interpretation as automatic classification systems do not apply TP53-specific criteria.
SCIENTIFIC REPORTS
(2023)
Review
Oncology
Valentina Rocca, Giovanni Blandino, Lucia D'Antona, Rodolfo Iuliano, Silvia Di Agostino
Summary: Li-Fraumeni Syndrome (LFS) is a rare familial tumor predisposition syndrome caused by mutations in the TP53 gene. Patients with LFS are at risk of developing various types of tumors. This review explores the novel mechanisms of tumor onset in LFS and discusses potential treatment approaches.
Article
Oncology
Cheng Chen, Na Qin, Mingjuan Wang, Qian Dong, Saima Sultana Tithi, Yawei Hui, Wenan Chen, Gang Wu, Dennis Kennetz, Michael N. Edmonson, Michael C. Rusch, Andrew Thrasher, John Easton, Heather L. Mulder, Nan Song, Noel -Marie Plonski, Kyla Shelton, Cindy Im, Matthew J. Ehrhardt, Kim E. Nichols, Wendy M. Leisenring, Kayla L. Stratton, Rebecca Howell, Yutaka Yasui, Smita Bhatia, Gregory Armstrong, Kirsten K. Ness, Melissa M. Hudson, Jinghui Zhang, Hui Wang, Deo Kumar Srivastava, Leslie L. Robison, Zhaoming Wang
Summary: Carriers of cancer predisposing variants are at an increased risk of developing subsequent malignant neoplasms among childhood cancer survivors. Implementing early personalized cancer surveillance and prevention strategies based on genetic counseling and clinical genetic testing can reduce the risk of subsequent malignant neoplasm-related mortality.
Article
Oncology
Meis Omran, Hemming Johansson, Claudia Lundgren, Gustav Silander, Marie Stenmark-Askmalm, Niklas Loman, Annika Baan, Jamila Adra, Ekaterina Kuchinskaya, Lennart Blomqvist, Emma Tham, Svetlana Bajalica-Lagercrantz, Yvonne Brandberg
Summary: This study evaluated the psychosocial consequences of surveillance with whole-body MRI in individuals with heritable TP53-related cancer syndrome. The results showed that surveillance did not increase cancer worry in both TP53 carriers with and without a previous history of cancer.
Article
Oncology
Alison N. Schwartz, Sophie R. Hyman, Samantha M. Stokes, Danielle Castillo, Nadine M. Tung, Jeffrey N. Weitzel, Huma Q. Rana, Judy E. Garber
Summary: In this study, approximately half of the probands with TP53 positive variants were found to have germline variants. In addition to these patients, those with constitutional mosaicism require intensified surveillance.
JCO PRECISION ONCOLOGY
(2021)
Article
Oncology
Henriett Butz, Jozsef Lovey, Marton Szentkereszty, Aniko Bozsik, Erika Toth, Attila Patocs
Summary: Since the introduction of next-generation sequencing, there has been an increase in the frequency of germline pathogenic TP53 variants and cases with unusual clinical presentations. This case report presents a patient with a malignant, metastatic PEComa and sinonasal carcinoma harboring a novel TP53 germline splice mutation. Comprehensive pathological, molecular, and clinical genetic analyses were conducted, supporting the pathogenic effect of the splice mutation in the PEComa.
FRONTIERS IN ONCOLOGY
(2022)
Article
Oncology
Jiil Chung, Logine Negm, Vanessa Bianchi, Lucie Stengs, Anirban Das, Zhihui Amy Liu, Sumedha Sudhaman, Melyssa Aronson, Ledia Brunga, Melissa Edwards, Victoria Forster, Martin Komosa, Scott Davidson, Jodi Lees, Patrick Tomboc, David Samuel, Roula Farah, Anne Bendel, Jeffrey Knipstein, Kami Wolfe Schneider, Agnes Reschke, Shayna Zelcer, Alexandra Zorzi, Robert McWilliams, William D. Foulkes, Raymond Bedgood, Lindsay Peterson, Sara Rhode, An Van Damme, Isabelle Scheers, Sharon Gardner, Gabriel Robbins, Magimairajan Issai Vanan, M. Stephen Meyn, Rebecca Auer, Brandie Leach, Carol Burke, Anita Villani, David Malkin, Eric Bouffet, Annie Huang, Michael D. Taylor, Carol Durno, Adam Shlien, Cynthia Hawkins, Gad Getz, Yosef E. Maruvka, Uri Tabori
Summary: The LOGIC assay is a robust tool for diagnosing MMRD in various cancer types and normal tissues. It outperforms current diagnostic methods and can inform therapeutic decisions and provide rapid diagnosis of germline MMRD.
JOURNAL OF CLINICAL ONCOLOGY
(2023)
Article
Pediatrics
Marco Roversi, Luana Coltella, Livia Piccioni, Umberto Raucci, Antonio Torelli, Laura Papini, Carla Olita, Antonino Reale, Carlo Federico Perno, Alberto Villani, Cristina Russo
Summary: The study reveals that fever, SARS-CoV-2 exposure, and respiratory symptoms are associated with higher viral load in children, especially infants, while age, presence of nonrespiratory symptoms, or absence of any symptoms are associated with lower viral load.
PEDIATRIC RESEARCH
(2023)
Review
Oncology
Alison M. R. Castle, Brianna Empringham, Lisa M. Pinto, Anita Villani, Nisha Kanwar, Lesleigh S. Abbott, Sarah L. Sawyer
Summary: Neurofibromatosis Type 1 (NF1) is a neurocutaneous syndrome characterized by multiple cafe-au-lait macules, neurofibromas, and predisposition to malignancies, including rhabdomyosarcomas (RMS). We describe three patients who presented prior to one year of age with RMS and were subsequently diagnosed with NF1. Genomic sequencing of the tumor was initiated in one patient, and we identified a second sequence variant in NF1. The identification of molecular drivers in tumors is changing the nature of pediatric oncology by informing therapeutics targeted to specific molecular pathways and selecting patients who are likely to harbor germline variants in cancer predisposition genes who would benefit from a Medical Genetics assessment.
PEDIATRIC HEMATOLOGY AND ONCOLOGY
(2023)
Article
Immunology
Emma Concetta Manno, Donato Amodio, Nicola Cotugno, Chiara Rossetti, Carmela Giancotta, Veronica Santilli, Paola Zangari, Gioacchino Andrea Rotulo, Alberto Villani, Emanuele Giglioni, Attilio Turchetta, Giulia Cafiero, Alessio Franceschini, Marcello Chinali, Ottavia Porzio, Aurelio Secinaro, Paolo Palma
Summary: This study found that acute pericarditis/myocarditis after COVID-19 mRNA vaccination is rare, but the long-term sequelae are not clear. By collecting clinical data, laboratory results, cardiac evaluation, electrocardiogram, and echocardiogram, it was found that some patients developed pericarditis/myocarditis symptoms after vaccination, but most patients recovered well during follow-up. Close and standardized follow-up is needed for patients with high levels of high-sensitive troponin T on admission.
PEDIATRIC INFECTIOUS DISEASE JOURNAL
(2023)
Article
Multidisciplinary Sciences
Nicholas Light, Mehdi Layeghifard, Ayush Attery, Vallijah Subasri, Matthew Zatzman, Nathaniel D. D. Anderson, Rupal Hatkar, Sasha Blay, David Chen, Ana Novokmet, Fabio Fuligni, James Tran, Richard de Borja, Himanshi Agarwal, Larissa Waldman, Lisa M. M. Abegglen, Daniel Albertson, Jonathan L. L. Finlay, Jordan R. R. Hansford, Sam Behjati, Anita Villani, Moritz Gerstung, Ludmil B. B. Alexandrov, Gino R. R. Somers, Joshua D. D. Schiffman, Varda Rotter, David Malkin, Adam Shlien
Summary: Li-Fraumeni syndrome (LFS) is associated with pathogenic germline TP53 variants and predisposes patients to cancer. The authors analyzed 22 LFS tumors using whole-genome sequencing and reconstructed the evolution and timing of somatic driver alterations.
NATURE COMMUNICATIONS
(2023)
Article
Nutrition & Dietetics
Maria Rosaria Marchili, Antonella Diamanti, Valeria Zanna, Giulia Spina, Cristina Mascolo, Marco Roversi, Benedetta Guarnieri, Gianluca Mirra, Giulia Testa, Umberto Raucci, Antonino Reale, Alberto Villani
Summary: Nutritional rehabilitation with naso-gastric feeding (NGF) is crucial for weight restoration in hospitalized anorexia nervosa (AN) patients. Patients treated with NGF have a lower BMI on admission and discharge, longer hospital stay, and a longer time to relapse compared to patients without NGF. Early NGF intervention is associated with a shorter length of hospitalization and facilitates faster recovery.
Article
Oncology
Anita Villani, Scott Davidson, Nisha Kanwar, Winnie W. W. Lo, Yisu Li, Sarah Cohen-Gogo, Fabio Fuligni, Lisa-Monique Edward, Nicholas Light, Mehdi Layeghifard, Ricardo Harripaul, Larissa Waldman, Bailey Gallinger, Federico Comitani, Ledia Brunga, Reid Hayes, Nathaniel D. D. Anderson, Arun K. K. Ramani, Kyoko E. E. Yuki, Sasha Blay, Brittney Johnstone, Cara Inglese, Rawan Hammad, Catherine Goudie, Andrew Shuen, Jonathan D. D. Wasserman, Rosemarie E. E. Venier, Marianne Eliou, Miranda Lorenti, Carol Ann Ryan, Michael Braga, Meagan Gloven-Brown, Jianan A. Han, Maria Montero, Famida Spatare, James A. A. Whitlock, Stephen W. W. Scherer, Kathy Chun, Martin J. J. Somerville, Cynthia Hawkins, Mohamed Abdelhaleem, Vijay Ramaswamy, Gino R. R. Somers, Lianna Kyriakopoulou, Johann Hitzler, Mary Shago, Daniel A. A. Morgenstern, Uri Tabori, Stephen Meyn, Meredith S. S. Irwin, David Malkin, Adam Shlien
Summary: We conducted integrative somatic-germline analyses on 300 cancer patients, sequencing 864 cancer-associated genes, complete genomes, and transcriptomes. Clinically actionable variants were found in 56% of patients, leading to modified management in some cases. Therapeutically targetable variants, derived from both somatic and germline sources, were present in 54% of patients.
Article
Psychiatry
Elisa Fuca, Floriana Costanzo, Laura Celestini, Paolo Galassi, Alberto Villani, Diletta Valentini, Stefano Vicari
Summary: This study aimed to explore the distribution differences of sleep problems and the age-specific associations between sleep problems and emotional/behavioral problems in individuals with DS. The results showed differences in the distribution of sleep problems between different age groups and observed differences in the patterns of association between sleep-related breathing difficulties and parasomnias and emotional/behavioral difficulties. However, sleep-wake transition disorders and excessive daily somnolence appeared to be related to emotional and behavioral problems (both internalizing and externalizing) in general, across school age and adolescence.
FRONTIERS IN PSYCHIATRY
(2023)
Article
Microbiology
Laura Lancella, Luciana Abate, Laura Cursi, Giulia Chiopris, Laura Nicoletti, Nicola Principi, Alberto Villani, Susanna Esposito
Summary: Abdominal tuberculosis is a commonly overlooked disease in children, and delayed or wrong diagnosis can lead to severe consequences. This report discusses five cases of abdominal tuberculosis diagnosed among 216 pediatric patients in Italy. The cases highlight the complexity and potential severity of abdominal tuberculosis, emphasizing the importance of early diagnosis and prompt treatment. Further research is needed to determine the appropriate duration of therapy and management of drug-resistant abdominal tuberculosis cases.
Article
Pediatrics
Valentina Ferro, Roberto Averna, Manuel Murciano, Umberto Raucci, Sebastian Cristaldi, Anna Maria Caterina Musolino, Maria Pontillo, Nicoletta Della Vecchia, Milena Labonia, Mara Pisani, Maria Laura Pucciarini, Raffaella Nacca, Antonino Reale, Stefano Vicari, Alberto Villani, Massimiliano Raponi
Summary: We analyzed the impact of the COVID-19 pandemic on the frequency of Emergency Department (ED) visits for mental health disorders (MHDs) in adolescents and characterized the profile of these adolescents seeking emergency psychiatric care. The study found a significant increase in ED visits for MHDs during the COVID-19 period compared to the pre-COVID-19 period. There were also notable changes in the characteristics of adolescents seeking care, including a decrease in comorbidities and an increase in first psychiatric episodes.
Article
Pediatrics
Giacomo Garone, Marco Roversi, Mara Pisani, Francesco La Penna, Antonio Musolino, Sebastian Cristaldi, Anna Maria Musolino, Amanda Roberto, Gianni Petrocelli, Antonino Reale, Fabio Midulla, Alberto Villani, Umberto Raucci
Summary: This study describes the clinical characteristics of children with APMD and their association with an increased risk of UCs. UCs most commonly occur in patients presenting with bilateral APMD and other associated features. In cases of unilateral/isolated APMD, ophthalmological examination to exclude toxic exposure should be recommended.
Article
Pediatrics
Elisabetta Straface, Isabella Tarissi De Jacobis, Teresa Capriati, Italo Pretelli, Annalisa Grandin, Cristina Mascolo, Rosa Vona, Lucrezia Gambardella, Camilla Cittadini, Alberto Villani, Maria Rosaria Marchili
Summary: Social distancing and quarantine measures during the COVID-19 pandemic had a negative impact on eating behavior, especially among adolescents. A retrospective study analyzed pediatric patients with eating disorders and found that a majority of patients had symptoms at the onset of their disorders, as well as comorbidities and alterations in blood parameters.
ITALIAN JOURNAL OF PEDIATRICS
(2023)
Review
Pediatrics
Maria Alessia Mesturino, Carol Bitetti, Anna Clemente, Andrzej Krzysztofiak, Laura Lancella, Roberta Lombardi, Laura Cursi, Elena Boccuzzi, Anna Maria Musolino, Alberto Villani
Summary: This case report presents a rare case of a 15-year-old boy with pulmonary empyema and subphrenic chest wall abscess caused by Aggregatibacter actinomycetemcomitans. Extra-oral infections caused by Aa are extremely rare, especially in children, and not well described yet. The report emphasizes the importance of a thorough inspection of the oral cavity during the examination of pediatric patients.
ITALIAN JOURNAL OF PEDIATRICS
(2023)
Article
Pediatrics
Mariangela Irrera, Elena Bozzola, Antonello Cardoni, Rita DeVito, Andrea Diociaiuti, Maya El Hachem, Katia Girardi, Alessandra Marchesi, Alberto Villani
Summary: This study presents a case report of a 13-year-old patient with a challenging diagnosis of paraneoplastic pemphigus (PNP) and Castelman's disease (CD) and explores the relationship between PNP and CD in pediatric patients. Clinical manifestations, histopathological findings, treatment, and outcomes are discussed to find elements for an early diagnosis.
ITALIAN JOURNAL OF PEDIATRICS
(2023)
Article
Pediatrics
Marco Marano, Marco Roversi, Flavia Severini, Claudia Memoli, Antonio Musolino, Mara Pisani, Corrado Cecchetti, Alberto Villani
Summary: This study aimed to analyze patients who contacted the hospital's pediatric poison control center for exposure to ibuprofen and acetaminophen. A total of 351 patients accessed the center, with the majority being females and the most common reason for intake being wrong use or accidental intake. Hospitalization was required for 30.5% of patients and adverse reactions were reported in 10.5% of cases, with nausea and vomiting being the most common.
ITALIAN JOURNAL OF PEDIATRICS
(2023)