EJC paediatric oncology最新文献

{"title":"Targeted treatment options for paediatric B-cell precursor acute lymphoblastic leukaemia patients with constitutional or somatic chromosome 21 alterations","authors":"Naomi Michels ,&nbsp;Femke M. Hormann ,&nbsp;Aurélie Boeree ,&nbsp;Edwin Sonneveld ,&nbsp;Anthony V. Moorman ,&nbsp;Gabriele Escherich ,&nbsp;Rosemary Sutton ,&nbsp;H. Berna Beverloo ,&nbsp;Rob Pieters ,&nbsp;C. Michel Zwaan ,&nbsp;Monique L. den Boer ,&nbsp;Judith M. Boer","doi":"10.1016/j.ejcped.2023.100140","DOIUrl":"https://doi.org/10.1016/j.ejcped.2023.100140","url":null,"abstract":"<div><h3>Background</h3><p>Chromosome 21 is affected in ∼60% of paediatric B-cell precursor acute lymphoblastic leukaemia (BCP-ALL) patients and includes somatic and constitutional gains, intrachromosomal amplification of chromosome 21 (iAMP21), and the translocation t(12;21) resulting in the <em>ETV6</em>::<em>RUNX1</em> gene fusion.</p></div><div><h3>Methods</h3><p>Since these numeric and structural chromosome 21 alterations are not targetable, we studied the type and frequency of yet-proven targetable events co-occurring with chromosome 21 alterations.</p></div><div><h3>Results</h3><p>Among 307 primary paediatric BCP-ALL cases, JAK/STAT pathway lesions were most frequent in patients with constitutional gain of chromosome 21 (Down syndrome ALL; 35/71, 49%) and iAMP21 (9/22, 41%). RAS pathway lesions were most frequent in high hyperdiploidy (62/108, 57%) and <em>FLT3</em> lesions were most frequent in iAMP21 (7/22, 32%). Virtually all cases expressed CD19 and CD22 at the cell surface. Positivity for CD20 surface expression ranged from 67% in iAMP21 (8/12) to 20% in <em>ETV6</em>::<em>RUNX1</em> (26/129).</p></div><div><h3>Conclusion</h3><p>Activated JAK/STAT, RAS or FLT3 signalling, and CD marker surface expression may provide targetable treatment options for the majority of chromosome 21-altered BCP-ALL cases.</p></div>","PeriodicalId":94314,"journal":{"name":"EJC paediatric oncology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-12-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2772610X23001381/pdfft?md5=959d96c593b178fd9dc58b96fd0f0b5d&pid=1-s2.0-S2772610X23001381-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139099980","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":"Olfactory neuroblastoma in children and adolescents: The EXPeRT recommendations for diagnosis and management","authors":"Daniela Di Carlo ,&nbsp;Giulia Fichera ,&nbsp;Benoit Dumont ,&nbsp;Enrico Pozzo ,&nbsp;Beate Timmermann ,&nbsp;Romain Luscan ,&nbsp;Antoine Moya-Plana ,&nbsp;Anna Synakiewicz ,&nbsp;Ewa Bien ,&nbsp;Nino Jorge dos Reis Farinha ,&nbsp;Malgorzata Krawczyk ,&nbsp;Rita Alaggio ,&nbsp;Apostolos Pourtsidis ,&nbsp;Brice Fresneau ,&nbsp;Yves Reguerre ,&nbsp;Tal Ben-Ami ,&nbsp;Calogero Virgone ,&nbsp;Jelena Roganovic ,&nbsp;Jan Godzinski ,&nbsp;Ines B Brecht ,&nbsp;Gianni Bisogno","doi":"10.1016/j.ejcped.2023.100136","DOIUrl":"10.1016/j.ejcped.2023.100136","url":null,"abstract":"<div><p>Olfactory neuroblastoma (ON) is a rare tumor commonly presenting between 50 and 60 years of age. In pediatric age this tumor is even rarer, with an estimated incidence of 0.1 per 100,000 children up to 15 years. It arises from the olfactory neurorepithelium of the nasal cavity, and it can be locally aggressive, spreading to the orbital cavity, skull base, intracranial cavity. In rarer cases it can also give distant metastasis, more frequently to regional lymph nodes and less commonly to distant sites like liver, lungs and bones. Prognosis varies depending on the stage at presentation (including dural invasion, regional nodal involvement, and distant metastasis), the histological grade, and aspects related to the treatment, such as the possibility to achieve clear margins with surgery and the multimodal approach. Chemotherapy, surgery and radiotherapy have been used to treat these patients and the different approaches have been reported in the literature. Given the rarity of the disease no shared guidelines exist for the management of this entity in children, but some suggestions can be given to optimize the ON management.</p><p>This study presents the internationally recognized recommendations for the diagnosis and treatment of ON in children and adolescents, established by the European Cooperative Study Group for Pediatric Rare Tumors (EXPeRT) group within the EU-funded project Pediatric Rare Tumors Network - European Registry (PARTNER).</p></div>","PeriodicalId":94314,"journal":{"name":"EJC paediatric oncology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-12-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2772610X23001344/pdfft?md5=8484a76f11e7abdbaac3d80fcaafdfc8&pid=1-s2.0-S2772610X23001344-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139020290","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":"A virtual consultation system for very rare tumors in children and adolescents – an initiative of the European Cooperative Study Group in Rare Tumors in Children (EXPeRT)","authors":"Dominik T. Schneider ,&nbsp;Andrea Ferrari ,&nbsp;Daniel Orbach ,&nbsp;Calogero Virgone ,&nbsp;Yves Reguerre ,&nbsp;Jan Godzinski ,&nbsp;Ewa Bien ,&nbsp;Jelena Roganovic ,&nbsp;Nuno Reis Farinha ,&nbsp;Tal Ben-Ami ,&nbsp;Teresa Stachowicz-Stencel ,&nbsp;Tabea Blessing ,&nbsp;Antje Redlich ,&nbsp;Apostolos Pourtsidis ,&nbsp;Kris Ann P. Schultz ,&nbsp;Ines B. Brecht ,&nbsp;Gianni Bisogno","doi":"10.1016/j.ejcped.2023.100137","DOIUrl":"10.1016/j.ejcped.2023.100137","url":null,"abstract":"<div><h3>Background</h3><p>Very rare tumors (VRTs) in children and adolescents are orphan diseases defined by an annual incidence of &lt;2/1000,000. For a long time, VRTs have been outside of clinical and research groups in the field of pediatric oncology. As a result, exchange of experience and development of therapeutic standards have not been promoted. After the foundation of several national VRT working groups and the European Cooperative Study Group on Pediatric Rare Tumors (EXPeRT), a virtual consultation system (VCS) has been established, which specifically aimed at facilitating access to clinical consultation in complicated cases of VRTs.</p></div><div><h3>Methods</h3><p>The VCS has been open to physicians. After initial registration, they can present VRT patients free of charge. Patient consent and data pseudonymization were mandatory. Within the VCS, disease specific interdisciplinary panel discussions with at least three experts from the EXPeRT group and partners have been opened, and at the end of the discussion, a written summary and recommendation was provided.</p></div><div><h3>Results</h3><p>Between Mai 2017 and March 2023, 160 cases from 27 countries (20 European, 7 non-European) have been discussed in the VCS. The most common diagnoses were adrenocortical carcinoma, malignant skin tumors and malignant ovarian tumors. In a survey three months after panel discussion, more than 90% of requesting physicians evaluated the VCS to be easy to use, helpful and to have a significant impact on patient management.</p></div><div><h3>Conclusion</h3><p>A VCS may provide significant assistance in the management of children and adolescents with VRTs. Furthermore, it may help to overcome inequalities in access to adequate treatment in countries with lower health care system resources or without established VRT study groups. Therefore, EXPeRT will continue to support the VCS. For this purpose, the VRT panels have been integrated into the Clinical Patient Management System (CPMS) within the European Reference Network Initiative (ERN PAedCan).</p></div>","PeriodicalId":94314,"journal":{"name":"EJC paediatric oncology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-12-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2772610X23001356/pdfft?md5=40889d1fba9c149920fbce54ebc78b77&pid=1-s2.0-S2772610X23001356-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139023456","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":"NEXT GENERATION SEQUENCING APPROACH TO BONE MARROW FAILURE SYNDROMES – PORTUGUESE EXPERIENCE","authors":"Margarida Coucelo ,&nbsp;Joana Azevedo ,&nbsp;Isabel Bogalho ,&nbsp;Ana Teresa Simões ,&nbsp;Ana Catarina Oliveira ,&nbsp;Sara Batalha ,&nbsp;Conceição Constanço ,&nbsp;Teresa Melo ,&nbsp;José Carlos Almeida ,&nbsp;Joana Desterro ,&nbsp;Patricia Ribeiro ,&nbsp;Emilia Costa ,&nbsp;Anabela Ferrão ,&nbsp;Paula Kjollerstrom ,&nbsp;Catarina Geraldes","doi":"10.1016/j.ejcped.2023.100035","DOIUrl":"https://doi.org/10.1016/j.ejcped.2023.100035","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/S2772610X23000338/pdfft?md5=3571d0e3cf38335ded932db271db3c3b&pid=1-s2.0-S2772610X23000338-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138738609","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":"NOVEL APPROACHES TARGETING THE RAS PATHWAY IN JMML","authors":"Elliot Stieglietz","doi":"10.1016/j.ejcped.2023.100036","DOIUrl":"https://doi.org/10.1016/j.ejcped.2023.100036","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/S2772610X2300034X/pdfft?md5=c314020303896f8d652bbce863090fac&pid=1-s2.0-S2772610X2300034X-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138738610","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":"FUNCTIONAL ANALYSES OF RUNX1 VARIANTS IN THE CONTEXT OF FAMILIAL PLATELET DISORDER WIT PREDISPOSITION TO HEMATOLOGIC MALIGNANCIES","authors":"Melanie Decker ,&nbsp;Förster Alisa ,&nbsp;Prüne Alina ,&nbsp;Anne Seebacher ,&nbsp;Alena Wittstock ,&nbsp;Thomas Illig ,&nbsp;Brigitte Schlegelberger ,&nbsp;Tim Ripperger","doi":"10.1016/j.ejcped.2023.100050","DOIUrl":"https://doi.org/10.1016/j.ejcped.2023.100050","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/S2772610X2300048X/pdfft?md5=069880f720bf3eae03bbde0817a85d4e&pid=1-s2.0-S2772610X2300048X-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138738621","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":"GENOTYPE/PHENOTYPE ASSOCIATIONS IN 174 INDIVIDUALS WITH GERMLINE GATA2 MUTATIONS","authors":"Lili Kotmayer ,&nbsp;Emilia Kozyra ,&nbsp;Maximilian Kaiser ,&nbsp;Michael Dworzak ,&nbsp;Barbara De Moerloose ,&nbsp;Jan Starý ,&nbsp;Henrik Hasle ,&nbsp;Kirsi Jahnukainen ,&nbsp;Sophia Polychronopoulou ,&nbsp;Krisztián Kállay ,&nbsp;Owen Smith ,&nbsp;Shlomit Barzilai ,&nbsp;Riccardo Masetti ,&nbsp;Jochen Buechner ,&nbsp;Marek Ussowicz ,&nbsp;Paula Kjollerstrom ,&nbsp;Ivana Boďová ,&nbsp;Marko Kavcic ,&nbsp;Albert Catala ,&nbsp;Dominik Turkiewicz ,&nbsp;Marcin Wlodarski","doi":"10.1016/j.ejcped.2023.100051","DOIUrl":"https://doi.org/10.1016/j.ejcped.2023.100051","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/S2772610X23000491/pdfft?md5=a818e7f7ac50a828399d1b9c22cad707&pid=1-s2.0-S2772610X23000491-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138738622","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":"PERIPHERAL AND BONE MARROW G-CSF-RELATED MYELOBLASTS RATE IN A PATIENT WITH SEVERE CONGENITAL NEUTROPENIA","authors":"Irene Trambusti,&nbsp;Francesco Pegoraro,&nbsp;Marco Tellini,&nbsp;Annalisa Tondo,&nbsp;Marinella Veltroni","doi":"10.1016/j.ejcped.2023.100108","DOIUrl":"https://doi.org/10.1016/j.ejcped.2023.100108","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/S2772610X2300106X/pdfft?md5=cc3c48d915f48d8aaadb04b3036ab7df&pid=1-s2.0-S2772610X2300106X-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138738761","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":"ALLOGENEIC STEM CELL TRANSPLANTATION FOR MYELODYSPLASTIC SYNDROME COMPLICATED BY SYNCHRONOUS ACUTE GRAFT-VS-HOST DISEASE AND CYTOMEGALOVIRUS INFECTION","authors":"Ana Fraga ,&nbsp;Rita Aldeia Da Silva ,&nbsp;Filipa Leite ,&nbsp;Ana Maia Ferreira ,&nbsp;Gil Brás ,&nbsp;Iris Maia","doi":"10.1016/j.ejcped.2023.100109","DOIUrl":"https://doi.org/10.1016/j.ejcped.2023.100109","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/S2772610X23001071/pdfft?md5=a6456c3a894fb34705185e5ac84eebd8&pid=1-s2.0-S2772610X23001071-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138738762","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":"UNRAVELING THE MOLECULAR BASIS OF PEDIATRIC MYELODYSPLASTIC SYNDROME: INSIGHTS FROM CRISPR/CAS9-EDITED IPSCS BEARING THE SAMD9 P.I1567M MUTATION","authors":"Joan Pera ,&nbsp;Julio Castaño ,&nbsp;Damia Romero-Moya ,&nbsp;Oskar Marin-Bejar","doi":"10.1016/j.ejcped.2023.100066","DOIUrl":"https://doi.org/10.1016/j.ejcped.2023.100066","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/S2772610X23000648/pdfft?md5=15b82a5ccfe2a1bafde56a57afe84013&pid=1-s2.0-S2772610X23000648-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138738838","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}