{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,6]],"date-time":"2026-03-06T17:08:03Z","timestamp":1772816883505,"version":"3.50.1"},"reference-count":19,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2021,8,12]],"date-time":"2021-08-12T00:00:00Z","timestamp":1628726400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100010663","name":"H2020 European Research Council","doi-asserted-by":"publisher","award":["85222"],"award-info":[{"award-number":["85222"]}],"id":[{"id":"10.13039\/100010663","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2021,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Isolated myelosarcoma of infancy is a rare presentation of acute myelogenous leukaemia (AML). Because of its rarity and early onset in infancy underlying genetic predisposition is potentially relevant in disease initiation.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods and Results<\/jats:title><jats:p>We report an oncologic emergency in an infant with thoracic and intraspinal aleukaemic myeloid sarcoma causing acute myelon compression and lower leg palsy. Whole\u2010exome sequencing of the patient's germline DNA identified a rare <jats:italic>PALB2<\/jats:italic> (OMIM 610355) variant (p.A1079S), which is located in a domain critical for the gene's proper function within the homology\u2010directed repair pathway. In line with potential DNA damage repair defects mediated by the PALB2 deregulation, the patient's fibroblasts showed increased sensitivity towards radiation and DNA intercalating agents.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Therefore, we suggest <jats:italic>PALB2<\/jats:italic> p.A1079S as a pathogenic variant potentially contributing to the here observed patient phenotype.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1746","type":"journal-article","created":{"date-parts":[[2021,8,12]],"date-time":"2021-08-12T08:12:12Z","timestamp":1628755932000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["A rare <i>PALB2<\/i> germline variant causing G2\/M cell cycle arrest is associated with isolated myelosarcoma in infancy"],"prefix":"10.1002","volume":"9","author":[{"given":"Angelina","family":"Beer","sequence":"first","affiliation":[{"name":"Neonatology and Pediatric Intensive Care Department of Pediatrics University Hospital Carl Gustav Carus Dresden Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ricardo","family":"Beck","sequence":"additional","affiliation":[{"name":"Department of Pediatric Surgery University Hospital Carl Gustav Carus Dresden Germany"},{"name":"Pediatric Oncology and Hematology Department of Pediatrics University Hospital Carl Gustav Carus Dresden Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anne","family":"Schedel","sequence":"additional","affiliation":[{"name":"Pediatric Oncology and Hematology Department of Pediatrics University Hospital Carl Gustav Carus Dresden Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Malte","family":"von Bonin","sequence":"additional","affiliation":[{"name":"Medical Clinic I University Hospital Carl Gustav Carus Dresden Germany"},{"name":"German Cancer Consortium (DKTK Dresden Germany"},{"name":"German Cancer Research Center (DKFZ Heidelberg Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J\u00f6rn","family":"Meinel","sequence":"additional","affiliation":[{"name":"Institute of Pathology University Hospital Carl Gustav Carus Dresden Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ulrike Anne","family":"Friedrich","sequence":"additional","affiliation":[{"name":"Pediatric Oncology and Hematology Department of Pediatrics University Hospital Carl Gustav Carus Dresden Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"Menzel","sequence":"additional","affiliation":[{"name":"Pediatric Oncology and Hematology Department of Pediatrics University Hospital Carl Gustav Carus Dresden Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Meinolf","family":"Suttorp","sequence":"additional","affiliation":[{"name":"Medical Faculty Pediatric Hematology &amp; Oncology Technical University Dresden Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sebastian","family":"Brenner","sequence":"additional","affiliation":[{"name":"Neonatology and Pediatric Intensive Care Department of Pediatrics University Hospital Carl Gustav Carus Dresden Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guido","family":"Fitze","sequence":"additional","affiliation":[{"name":"Department of Pediatric Surgery University Hospital Carl Gustav Carus Dresden Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bj\u00f6rn","family":"Lange","sequence":"additional","affiliation":[{"name":"Pediatric Oncology and Hematology Department of Pediatrics University Hospital Carl Gustav Carus Dresden Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ralf","family":"Kn\u00f6fler","sequence":"additional","affiliation":[{"name":"Pediatric Oncology and Hematology Department of Pediatrics University Hospital Carl Gustav Carus Dresden Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4058-3058","authenticated-orcid":false,"given":"Julia","family":"Hauer","sequence":"additional","affiliation":[{"name":"Pediatric Oncology and Hematology Department of Pediatrics University Hospital Carl Gustav Carus Dresden Germany"},{"name":"National Center for Tumor Diseases (NCT) Dresden Germany"},{"name":"German Cancer Research Center (DKFZ) Heidelberg Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Franziska","family":"Auer","sequence":"additional","affiliation":[{"name":"National Center for Tumor Diseases (NCT) Dresden Germany"},{"name":"German Cancer Research Center (DKFZ) Heidelberg Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,8,12]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1400382"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.leu.2401971"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.celrep.2014.01.009"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10549-015-3625-7"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1097\/00043426-200310000-00004"},{"issue":"12","key":"e_1_2_7_7_1","first-page":"484","article-title":"PALB2 (partner and localizer of BRCA2)","volume":"22","author":"Hanenberg H.","year":"2018","journal-title":"Atlas of Genetics and Cytogenetics in Oncology and Haematology"},{"key":"e_1_2_7_8_1","volume-title":"German Childhood Cancer Registry \u2010 Annual Report 2018 (1980\u20102017)","author":"Kaatsch P. G. D.","year":"2019"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/pbc.20824"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/embor.2011.99"},{"key":"e_1_2_7_11_1","article-title":"Cancer Predisposition Sequencing Reporter (CPSR): A flexible variant report engine for germline screening in cancer","author":"Nakken S. S. V.","year":"2019","journal-title":"Bioinformatics"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/onc.2013.421"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clml.2018.03.013"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1947"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1080\/10428190290012056"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrc3181"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tibs.2015.08.006"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/pbc.26520"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1942"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.molcel.2006.05.022"}],"container-title":["Molecular Genetics &amp; Genomic Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.1746","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mgg3.1746","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.1746","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,28]],"date-time":"2023-08-28T11:48:24Z","timestamp":1693223304000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mgg3.1746"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,8,12]]},"references-count":19,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2021,9]]}},"alternative-id":["10.1002\/mgg3.1746"],"URL":"https:\/\/doi.org\/10.1002\/mgg3.1746","archive":["Portico"],"relation":{},"ISSN":["2324-9269","2324-9269"],"issn-type":[{"value":"2324-9269","type":"print"},{"value":"2324-9269","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,8,12]]},"assertion":[{"value":"2021-02-18","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-07-01","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-08-12","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e1746"}}