{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,27]],"date-time":"2026-02-27T02:41:17Z","timestamp":1772160077135,"version":"3.50.1"},"reference-count":20,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2024,4,24]],"date-time":"2024-04-24T00:00:00Z","timestamp":1713916800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100020984","name":"Fondation du cancer des C\u00e8dres","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100020984","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100016067","name":"Charles Bruneau Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100016067","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100020951","name":"Fonds de recherche du Qu\u00e9bec","doi-asserted-by":"publisher","award":["253761"],"award-info":[{"award-number":["253761"]}],"id":[{"id":"10.13039\/501100020951","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004097","name":"Fondation ARC pour la Recherche sur le Cancer","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004097","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100019683","name":"Cole Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100019683","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2024,8]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Acute promyelocytic leukemia (APL) represents 5%\u201310% of childhood acute myeloid leukemia (AML) and is the most curable subtype of AML. Fanconi anemia (FA) is one of the most common inherited bone marrow failure syndromes caused by biallelic pathogenic variants (PV) in specific DNA\u2010repair genes. Biallelic PVs in\n                    <jats:italic>FANCD1\/BRCA2<\/jats:italic>\n                    (FA\u2010D1) account for 3% of FA and are associated with early\u2010onset leukemia and a high risk of solid tumors. We report a 4\u2009year\u2010old boy from non\u2010consanguineous parents diagnosed with standard risk APL. This child had caf\u00e9\u2010au\u2010lait spots and an extra thumb remnant. Genomic sequencing revealed two PV in\n                    <jats:italic>FANCD1\/BRCA2<\/jats:italic>\n                    confirming a diagnosis of FA\u2010D1. Chromosomal breakage studies were compatible with FA. Each parent carried one variant and had no personal history of cancer. Morphological then molecular remissions were achieved with all\u2010trans retinoic acid and Arsenic trioxide. This patient underwent haploidentical stem cell transplant. In addition to our patient, a literature search revealed four additional patients with APL\/FA, with a total of three patients with FA\u2010D1. This raises the possibility of an association between such rare disorders. Practical management of APL in the setting of FA\u2010D1 is discussed with an overview of current evidence and knowledge gaps.\n                  <\/jats:p>","DOI":"10.1111\/cge.14537","type":"journal-article","created":{"date-parts":[[2024,4,24]],"date-time":"2024-04-24T23:19:28Z","timestamp":1714000768000},"page":"193-198","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Pediatric acute promyelocytic leukemia and Fanconi anemia: Case report and literature review"],"prefix":"10.1111","volume":"106","author":[{"given":"Claire","family":"Freycon","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Division of Hematology\u2010Oncology Montreal Children's Hospital, McGill University Health Centre  Montreal Quebec Canada"},{"name":"Department of Child Health and Human Development Research Institute of the McGill University Health Centre  Montreal Quebec Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Edith","family":"Sepulchre","sequence":"additional","affiliation":[{"name":"Department of Human Genetics GIGA Research Center \u2013 University of Li\u00e8ge and Centre Hospitalier Universitaire Li\u00e8ge  Li\u00e8ge Belgium"},{"name":"Research Center Centre Hospitalier Universitaire Sainte\u2010Justine  Montreal Quebec Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vincent\u2010Philippe","family":"Lavall\u00e9e","sequence":"additional","affiliation":[{"name":"Research Center Centre Hospitalier Universitaire Sainte\u2010Justine  Montreal Quebec Canada"},{"name":"Department of Pediatrics, Division of Pediatric Hematology\u2010Oncology Charles\u2010Bruneau Cancer Center, Centre Hospitalier Universitaire Sainte\u2010Justine  Montreal Quebec Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David","family":"Mitchell","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Hematology\u2010Oncology Montreal Children's Hospital, McGill University Health Centre  Montreal Quebec Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Margaret L.","family":"MacMillan","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Blood and Marrow Transplantation &amp; Cellular Therapy University of Minnesota  Minneapolis Minnesota USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Catherine","family":"Vezina","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Hematology\u2010Oncology Montreal Children's Hospital, McGill University Health Centre  Montreal Quebec Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Catherine","family":"Goudie","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Hematology\u2010Oncology Montreal Children's Hospital, McGill University Health Centre  Montreal Quebec Canada"},{"name":"Department of Child Health and Human Development Research Institute of the McGill University Health Centre  Montreal Quebec Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,4,24]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.4084\/mjhid.2014.032"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(77)91415-5"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S2352-3026(15)00115-5"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1508054"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.2021.279981"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.2019.222877"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2006.043257"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.022673"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.21.01495"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1947"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cancergen.2021.10.001"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1182\/bloodadvances.2020003707"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0959\u20108049(17)30559\u20102"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1800024"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.5045\/kjh.2010.45.4.236"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddad017"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2016-01-583625"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjh.12634"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2004-04-1652"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/cncr.23954"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.14537","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,7,1]],"date-time":"2024-07-01T06:46:45Z","timestamp":1719816405000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.14537"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,4,24]]},"references-count":20,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2024,8]]}},"alternative-id":["10.1111\/cge.14537"],"URL":"https:\/\/doi.org\/10.1111\/cge.14537","archive":["Portico"],"relation":{"has-review":[{"id-type":"doi","id":"10.1111\/CGE.14537\/v1\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14537\/v2\/response1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14537\/v2\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14537\/v1\/review3","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14537\/v1\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14537\/v1\/review2","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14537\/v2\/review1","asserted-by":"object"}]},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,4,24]]},"assertion":[{"value":"2024-02-22","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-04-17","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-04-24","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}