EJC paediatric oncology最新文献

{"title":"GENOME SEQUENCING APPROACHES FOR DIAGNOSIS AND DISCOVERY OF BMF/MDS SPECIFIC GENETIC ALTERATIONS","authors":"Marcin Wlodarski","doi":"10.1016/j.ejcped.2023.100054","DOIUrl":"https://doi.org/10.1016/j.ejcped.2023.100054","url":null,"abstract":"","PeriodicalId":94314,"journal":{"name":"EJC paediatric oncology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2772610X23000521/pdfft?md5=2dfad7d2f620a5aa0b07fd744efbd09e&pid=1-s2.0-S2772610X23000521-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138738625","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"PEDIATRIC MDS IN GATA2-DEFICIENCY: ENHANCED HISTONE TRIMETHYLATION AND DEREGULATED APOPTOSIS AS DRIVER?","authors":"Franziska Schreiber , Guido Piontek , Yuki Schneider-Kimoto , Stephan Schwarz-Furlan , Rita De Vito , Franco Locatelli , Carole Gengler , Charlotte M. Niemeyer , Miriam Erlacher , Martina Rudelius","doi":"10.1016/j.ejcped.2023.100059","DOIUrl":"https://doi.org/10.1016/j.ejcped.2023.100059","url":null,"abstract":"","PeriodicalId":94314,"journal":{"name":"EJC paediatric oncology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2772610X23000570/pdfft?md5=93b315266b8922558af7dc4a95e75083&pid=1-s2.0-S2772610X23000570-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138738630","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"DIAGNOSIS OF JUVENILE MYELOMONOCYTIC LEUKEMIA, IN CHILDREN WITH NEUROFIBROMATOSIS TYPE 1 – CASE REPORT","authors":"Rita Aldeia Da Silva , Ana Fraga , Filipa Leite , João Silva , Maria João Gil-Da-Costa , Iris Maia","doi":"10.1016/j.ejcped.2023.100110","DOIUrl":"https://doi.org/10.1016/j.ejcped.2023.100110","url":null,"abstract":"","PeriodicalId":94314,"journal":{"name":"EJC paediatric oncology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2772610X23001083/pdfft?md5=283e721a9917b15a869b82a739896a1c&pid=1-s2.0-S2772610X23001083-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138738763","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"HOMOZYGOUS CBL MUTATION IN B LYMPHOCYTES AFTER CBL-DRIVEN JMML IMPAIRS B CELL MATURATION, FUNCTION AND ANTIBACTERIAL IMMUNITY","authors":"Jonathan Bohlen , Marine Michelet , Federica Barzaghi , Francesco Saettini , Francesca Vendemini , Albert Catala , Laia Alsina , Francesca Conti , Fillippo Consonni , Davide Learndini , Riccardo Masetti , Edoardo Muratore , Francesco Baccelli , Ivan Bagaric , Taja Vatovec , Feroj Seyed , Isabelle Andre , Lori Buetow , Eric Delabesse , Laetitia Largeaud , Jacinta Bustamante","doi":"10.1016/j.ejcped.2023.100040","DOIUrl":"https://doi.org/10.1016/j.ejcped.2023.100040","url":null,"abstract":"","PeriodicalId":94314,"journal":{"name":"EJC paediatric oncology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2772610X23000387/pdfft?md5=b2105aeaf3b4de873a55f0ddde8c06dd&pid=1-s2.0-S2772610X23000387-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138738848","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"CASE REPORT: AN UNUSUAL CASE OF REFRACTORY CYTOPENIA OF CHILDHOOD IN A PATIENT WITH DOWN SYNDROME?","authors":"Viviany Viana , Mn Nóbrega , Yc Souza , Ca Cambraia , Af Oliveira , R Balceiro","doi":"10.1016/j.ejcped.2023.100101","DOIUrl":"https://doi.org/10.1016/j.ejcped.2023.100101","url":null,"abstract":"","PeriodicalId":94314,"journal":{"name":"EJC paediatric oncology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2772610X23000995/pdfft?md5=7da60fd0e61767442f1d5a56d3b55774&pid=1-s2.0-S2772610X23000995-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138738876","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"EPIDEMIOLOGICAL ANALYSIS OF CONSTITUTIONAL AND ACQUIRED APLASTIC ANEMIA IN LATVIA: 1998-2022","authors":"Iveta Racko , Zanna Kovalova","doi":"10.1016/j.ejcped.2023.100105","DOIUrl":"https://doi.org/10.1016/j.ejcped.2023.100105","url":null,"abstract":"","PeriodicalId":94314,"journal":{"name":"EJC paediatric oncology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2772610X23001034/pdfft?md5=28fe30fd34bbfbdaca6bc4801c16d0aa&pid=1-s2.0-S2772610X23001034-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138738880","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"IMMUNOSUPPRESSIVE THERAPY IN A PATIENT WITH SAA-like RCC AND GATA2 DEFICIENCY","authors":"D Kroiss , W Novak , S Karlhuber , G Engstler , H Boztug , M Dworzak","doi":"10.1016/j.ejcped.2023.100106","DOIUrl":"https://doi.org/10.1016/j.ejcped.2023.100106","url":null,"abstract":"","PeriodicalId":94314,"journal":{"name":"EJC paediatric oncology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2772610X23001046/pdfft?md5=e737fe072da0f1492658709244972597&pid=1-s2.0-S2772610X23001046-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138738881","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Salivary gland carcinomas in children and adolescents: A retrospective analysis of the European Cooperative Study Group for Pediatric Rare Tumours (EXPeRT)","authors":"Dominik T. Schneider ,&nbsp;Daniel Orbach ,&nbsp;Calogero Virgone ,&nbsp;Yves Reguerre ,&nbsp;Jan Godzinski ,&nbsp;Ewa Bien ,&nbsp;Gianni Bisogno ,&nbsp;Jelena Roganovic ,&nbsp;Nuno Reis Farinha ,&nbsp;Tal Ben-Ami ,&nbsp;Teresa Stachowicz-Stencel ,&nbsp;Anna Synakiewicz ,&nbsp;Bernadette Brennan ,&nbsp;Stefano Chiaravalli ,&nbsp;Benedikt Bernbeck ,&nbsp;Coralie Mallebranche ,&nbsp;Vincent Couloigner ,&nbsp;Michael Abele ,&nbsp;Ines B. Brecht ,&nbsp;Andrea Ferrari","doi":"10.1016/j.ejcped.2023.100129","DOIUrl":"https://doi.org/10.1016/j.ejcped.2023.100129","url":null,"abstract":"<div><h3>Background</h3><p>Salivary gland carcinomas (SGCs) are exceedingly rare in children, with a reported annual incidence of 0.8–1.4/1000,000 under 20 years of age. Evidence regarding optimal treatment of pediatric SGCs is limited, and for a long time, no guidelines have been available. Here, we report on an international retrospective series of SGCs in children and adolescents collected by several national rare tumor study groups cooperating in the European Cooperative Study Group of Pediatric Rare Tumors (EXPeRT)</p></div><div><h3>Patients and methods</h3><p>Patients diagnosed between 2000 and 2014 were included. Data were reviewed by the respective national rare tumor working groups and reported on a harmonized data sheet to EXPeRT for central analysis.</p></div><div><h3>Results</h3><p>Overall, 121 patients were identified, including 103 patients with parotid tumors, 12 with submandibular tumors and six tumors in minor glands. In 11 patients, SGCs were secondary cancers. Mucoepidermoid carcinoma was the most frequent diagnosis (n = 65), followed by acinic cell carcinoma (n = 39), adenocystic carcinoma (n = 7), sialoblastoma (n = 3) and other carcinomas (n = 7). All patients underwent tumor resection (R0: 66%, R1: 34%). Neck dissection was performed in 47 patients, revealing nodal metastases in 13. Twenty-four patients underwent irradiation, and 11 patients received adjuvant chemotherapy. During a median follow-up of 25 (6–140 months), 14 relapses were observed (7 local, 5 with nodal and 2 with distant metastases). Five patients died of disease. Higher histological tumor grade was associated with advanced local tumor stage and risk of recurrence.</p></div><div><h3>Conclusions</h3><p>SGCs in children and adolescents mostly present as localized tumors with low malignant potential. In approximately 10% of patients, regional lymph node metastases present at diagnosis. After complete resection, prognosis is favorable. Surgery is the mainstay of treatment; adjuvant local or cervical irradiation should be reserved to those rare patients with nodal metastases or less favorable biology such as adenocystic carcinoma.</p></div>","PeriodicalId":94314,"journal":{"name":"EJC paediatric oncology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2772610X23001277/pdfft?md5=bcee0938466d1d5da96386c58cd3026c&pid=1-s2.0-S2772610X23001277-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138467463","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"SH2B3 GERMLINE MUTATION CAUSE A MULTISYSTEM DISORDER WITH PREDISPOSITION TO MYELOPROLIFERATIVE NEOPLASMS","authors":"Davide Leardini ,&nbsp;Sara Cerasi ,&nbsp;Francesco Baccelli ,&nbsp;Francesca Gottardi ,&nbsp;Edoardo Muratore ,&nbsp;Krisztián Miklós Kállay ,&nbsp;Paula Kjollerstrom ,&nbsp;Sara Batalha ,&nbsp;Elisa Rumi ,&nbsp;Valeria Santini ,&nbsp;Marco Gabriele Raddi ,&nbsp;Anupama Rao ,&nbsp;Ana Rio-Machin ,&nbsp;Riccardo Masetti","doi":"10.1016/j.ejcped.2023.100042","DOIUrl":"https://doi.org/10.1016/j.ejcped.2023.100042","url":null,"abstract":"","PeriodicalId":94314,"journal":{"name":"EJC paediatric oncology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2772610X23000405/pdfft?md5=5a3b26a608e908dccdbe8bc16712e0e4&pid=1-s2.0-S2772610X23000405-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138738613","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"IMPLICATIONS OF NOVEL CLASSIFICATIONS OF MYELOID NEOPLASMS FOR CHILDHOOD MDS","authors":"Katherine R. Calvo","doi":"10.1016/j.ejcped.2023.100045","DOIUrl":"https://doi.org/10.1016/j.ejcped.2023.100045","url":null,"abstract":"","PeriodicalId":94314,"journal":{"name":"EJC paediatric oncology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2772610X23000430/pdfft?md5=e1e0859e86de4400bb5ba78350361333&pid=1-s2.0-S2772610X23000430-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138738616","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}