{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,1]],"date-time":"2026-11-01T11:04:11Z","timestamp":1793531051373,"version":"4.5.0"},"reference-count":26,"publisher":"American Society of Hematology","issue":"21","content-domain":{"domain":["ashpublications.org"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2025,5,22]]},"abstract":"<jats:sec>\n                    <jats:title>Abstract<\/jats:title>\n                    <jats:p>This study identified an increased risk of lymphoid malignancy in Shwachman-Diamond syndrome (SDS) with an observed risk 38-fold higher than expected based on population data. Increased toxicity was observed with standard therapies in patients with SDS.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1182\/blood.2024026507","type":"journal-article","created":{"date-parts":[[2025,3,16]],"date-time":"2025-03-16T16:56:56Z","timestamp":1742144216000},"page":"2528-2532","update-policy":"https:\/\/doi.org\/10.1182\/blood.2019cm0000","source":"Crossref","is-referenced-by-count":8,"title":["Lymphoid malignancies in patients with Shwachman-Diamond syndrome"],"prefix":"10.1182","volume":"145","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2658-7255","authenticated-orcid":false,"given":"Helen D.","family":"Reed","sequence":"first","affiliation":[{"name":"1Dana-Farber and Boston Children\u2019s Cancer and Blood Disorders Center, Harvard Medical School, Boston, MA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hyunwoo","family":"Do","sequence":"additional","affiliation":[{"name":"2Biostatistics and Research Design Center, Boston Children\u2019s Hospital, Boston, MA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edie","family":"Weller","sequence":"additional","affiliation":[{"name":"2Biostatistics and Research Design Center, Boston Children\u2019s Hospital, Boston, MA"},{"name":"3Division of Hematology and Oncology, Boston Children\u2019s Hospital, Boston, MA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marian H.","family":"Harris","sequence":"additional","affiliation":[{"name":"4Department of Pathology, Boston Children\u2019s Hospital, Boston, MA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9551-7533","authenticated-orcid":false,"given":"Christopher R.","family":"Reilly","sequence":"additional","affiliation":[{"name":"5Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Harrison K.","family":"Tsai","sequence":"additional","affiliation":[{"name":"4Department of Pathology, Boston Children\u2019s Hospital, Boston, MA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2148-5839","authenticated-orcid":false,"given":"Jason E.","family":"Farrar","sequence":"additional","affiliation":[{"name":"6Arkansas Children\u2019s Research Institute, Little Rock, AR"},{"name":"7Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, AR"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2688-437X","authenticated-orcid":false,"given":"Bonnie W.","family":"Lau","sequence":"additional","affiliation":[{"name":"8Department of Pediatrics, Dartmouth Health, Geisel School of Medicine at Dartmouth College, Lebanon, NH"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lauren","family":"Pommert","sequence":"additional","affiliation":[{"name":"9Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH"},{"name":"10Division of Oncology, Cancer and Blood Diseases Institute, Cincinnati Children\u2019s Hospital Medical Center, Cincinnati, OH"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christopher","family":"Gamper","sequence":"additional","affiliation":[{"name":"11Johns Hopkins University School of Medicine, Baltimore, MD"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ian","family":"Atkinson","sequence":"additional","affiliation":[{"name":"1Dana-Farber and Boston Children\u2019s Cancer and Blood Disorders Center, Harvard Medical School, Boston, MA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katherine","family":"Coyne","sequence":"additional","affiliation":[{"name":"1Dana-Farber and Boston Children\u2019s Cancer and Blood Disorders Center, Harvard Medical School, Boston, MA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margret","family":"Joos","sequence":"additional","affiliation":[{"name":"1Dana-Farber and Boston Children\u2019s Cancer and Blood Disorders Center, Harvard Medical School, Boston, MA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"Loveless","sequence":"additional","affiliation":[{"name":"12Cincinnati Children\u2019s Hospital Medical Center, Cincinnati, OH"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah","family":"Steltz","sequence":"additional","affiliation":[{"name":"13Clinical Research Operations Center, Boston Children\u2019s Hospital, Boston, MA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leah","family":"Cheng","sequence":"additional","affiliation":[{"name":"13Clinical Research Operations Center, Boston Children\u2019s Hospital, Boston, MA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maggie","family":"Malsch","sequence":"additional","affiliation":[{"name":"14Dana-Farber Cancer Institute, Boston, MA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5528-4405","authenticated-orcid":false,"given":"Kasiani","family":"Myers","sequence":"additional","affiliation":[{"name":"9Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH"},{"name":"15Division of Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children\u2019s Hospital Medical Center, Cincinnati, OH"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4683-9958","authenticated-orcid":false,"given":"Akiko","family":"Shimamura","sequence":"additional","affiliation":[{"name":"1Dana-Farber and Boston Children\u2019s Cancer and Blood Disorders Center, Harvard Medical School, Boston, MA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"234","reference":[{"issue":"4","key":"2025052211212459500_bib1","doi-asserted-by":"crossref","first-page":"687","DOI":"10.1016\/j.hoc.2018.04.006","article-title":"Diagnosis, treatment, and molecular pathology of Shwachman-Diamond syndrome","volume":"32","author":"Nelson","year":"2018","journal-title":"Hematol Oncol Clin North Am"},{"issue":"1","key":"2025052211212459500_bib2","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1182\/bloodadvances.2021005539","article-title":"Hematologic complications with age in Shwachman-Diamond syndrome","volume":"6","author":"Furutani","year":"2022","journal-title":"Blood Adv"},{"issue":"3","key":"2025052211212459500_bib3","doi-asserted-by":"crossref","first-page":"e238","DOI":"10.1016\/S2352-3026(19)30206-6","article-title":"Myelodysplastic syndrome and acute myeloid leukemia in patients with Shwachman Diamond syndrome: a multicentre, retrospective, cohort study","volume":"7","author":"Myers","year":"2020","journal-title":"Lancet Haematol"},{"issue":"13","key":"2025052211212459500_bib4","doi-asserted-by":"crossref","first-page":"1513","DOI":"10.1182\/blood.2022017739","article-title":"Predisposition to myeloid malignancies in Shwachman-Diamond syndrome: biological insights and clinical advances","volume":"141","author":"Reilly","year":"2023","journal-title":"Blood"},{"issue":"9","key":"2025052211212459500_bib5","doi-asserted-by":"crossref","first-page":"1312","DOI":"10.3324\/haematol.2011.057489","article-title":"Classification of and risk factors for hematologic complications in a French national cohort of 102 patients with Shwachman-Diamond syndrome","volume":"97","author":"Donadieu","year":"2012","journal-title":"Haematologica"},{"issue":"3","key":"2025052211212459500_bib6","doi-asserted-by":"crossref","first-page":"701","DOI":"10.1046\/j.1365-2141.2002.03585.x","article-title":"Shwachman-Diamond syndrome","volume":"118","author":"Dror","year":"2002","journal-title":"Br J Haematol"},{"issue":"7","key":"2025052211212459500_bib7","doi-asserted-by":"crossref","first-page":"892","DOI":"10.1002\/pbc.20478","article-title":"Shwachman-Diamond syndrome","volume":"45","author":"Dror","year":"2005","journal-title":"Pediatr Blood Cancer"},{"issue":"2","key":"2025052211212459500_bib8","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1007\/s40291-018-0368-2","article-title":"Shwachman-Diamond syndrome: molecular mechanisms and current perspectives","volume":"23","author":"Bezzerri","year":"2019","journal-title":"Mol Diagn Ther"},{"issue":"10","key":"2025052211212459500_bib9","doi-asserted-by":"crossref","first-page":"2594","DOI":"10.3324\/haematol.2023.282949","article-title":"Shwachman-Diamond syndromes: clinical, genetic, and biochemical insights from the rare variants","volume":"108","author":"Kawashima","year":"2023","journal-title":"Haematologica"},{"key":"2025052211212459500_bib10","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1016\/j.jbior.2017.09.002","article-title":"Molecular basis of the human ribosomopathy Shwachman-diamond syndrome","volume":"67","author":"Warren","year":"2018","journal-title":"Adv Biol Regul"},{"issue":"1","key":"2025052211212459500_bib11","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1038\/ng1062","article-title":"Mutations in SBDS are associated with Shwachman-Diamond syndrome","volume":"33","author":"Boocock","year":"2003","journal-title":"Nat Genet"},{"key":"2025052211212459500_bib12","doi-asserted-by":"crossref","first-page":"196","DOI":"10.1016\/j.jpeds.2019.12.041","article-title":"A prospective study of hematologic complications and long-term survival of Italian patients affected by Shwachman-Diamond syndrome","volume":"219","author":"Cesaro","year":"2020","journal-title":"J Pediatr"},{"key":"2025052211212459500_bib13","unstructured":"SEER\u2217Explorer\n          . An interactive website for SEER cancer statistics [Internet]. Surveillance Research Program. National Cancer Institute; 19 April 2023. [updated: 16 November 2023; cited 27 November 2023]. Accessed 1 December 2023. https:\/\/seer.cancer.gov\/statistics-network\/explorer\/. Datasource(s): SEER Incidence Data, November 2022 Submission (1975-2020), SEER 22 registries."},{"issue":"1","key":"2025052211212459500_bib14","doi-asserted-by":"crossref","first-page":"82","DOI":"10.1158\/2159-8290.CD-11-0184","article-title":"High-throughput detection of actionable genomic alterations in clinical tumor samples by targeted, massively parallel sequencing","volume":"2","author":"Wagle","year":"2012","journal-title":"Cancer Discov"},{"issue":"4","key":"2025052211212459500_bib15","doi-asserted-by":"crossref","first-page":"507","DOI":"10.1016\/j.jmoldx.2016.02.003","article-title":"Validation and implementation of a custom next-generation sequencing clinical assay for hematologic malignancies","volume":"18","author":"Kluk","year":"2016","journal-title":"J Mol Diagn"},{"issue":"2","key":"2025052211212459500_bib16","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1038\/ng.518","article-title":"Somatic mutations altering EZH2 (Tyr641) in follicular and diffuse large B-cell lymphomas of germinal-center origin","volume":"42","author":"Morin","year":"2010","journal-title":"Nat Genet"},{"issue":"1","key":"2025052211212459500_bib17","doi-asserted-by":"crossref","first-page":"1334","DOI":"10.1038\/s41467-021-21588-4","article-title":"Distinct genetic pathways define pre-malignant versus compensatory clonal hematopoiesis in Shwachman-Diamond syndrome","volume":"12","author":"Kennedy","year":"2021","journal-title":"Nat Commun"},{"issue":"1","key":"2025052211212459500_bib18","doi-asserted-by":"crossref","first-page":"5092","DOI":"10.1038\/s41467-023-40896-5","article-title":"Convergent somatic evolution commences in utero in a germline ribosomopathy","volume":"14","author":"Machado","year":"2023","journal-title":"Nat Commun"},{"issue":"8","key":"2025052211212459500_bib19","doi-asserted-by":"crossref","first-page":"e31137","DOI":"10.1002\/pbc.31137","article-title":"A case of co-occurring acute myeloid leukemia and relapsed diffuse large B-cell lymphoma in a young adult with Shwachman-Diamond syndrome","volume":"71","author":"LeBlanc","year":"2024","journal-title":"Pediatr Blood Cancer"},{"issue":"3","key":"2025052211212459500_bib20","doi-asserted-by":"crossref","first-page":"564","DOI":"10.1002\/pbc.24743","article-title":"CNS lymphoma in a patient with Shwachman Diamond syndrome","volume":"61","author":"Sharma","year":"2014","journal-title":"Pediatr Blood Cancer"},{"issue":"1","key":"2025052211212459500_bib21","doi-asserted-by":"crossref","first-page":"74","DOI":"10.1097\/RLU.0b013e3182335f1f","article-title":"Lymphoma in a case of Shwachman-Diamond syndrome: PET\/CT findings","volume":"37","author":"Verbrugge","year":"2012","journal-title":"Clin Nucl Med"},{"issue":"6","key":"2025052211212459500_bib22","doi-asserted-by":"crossref","first-page":"536","DOI":"10.1056\/NEJMoa1611604","article-title":"Prognostic mutations in myelodysplastic syndrome after stem-cell transplantation","volume":"376","author":"Lindsley","year":"2017","journal-title":"N Engl J Med"},{"issue":"16","key":"2025052211212459500_bib23","doi-asserted-by":"crossref","first-page":"3668","DOI":"10.1182\/blood-2011-11-366062","article-title":"Dysfunction of the TP53 tumor suppressor gene in lymphoid malignancies","volume":"119","author":"Xu-Monette","year":"2012","journal-title":"Blood"},{"issue":"10","key":"2025052211212459500_bib24","doi-asserted-by":"crossref","first-page":"3879","DOI":"10.1073\/pnas.1121343109","article-title":"Discovery and prioritization of somatic mutations in diffuse large B-cell lymphoma (DLBCL) by whole-exome sequencing","volume":"109","author":"Lohr","year":"2012","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"5","key":"2025052211212459500_bib25","doi-asserted-by":"crossref","first-page":"846","DOI":"10.1002\/pbc.24223","article-title":"Prevalence of germline TP53 mutations and history of Li-Fraumeni syndrome in families with childhood adrenocortical tumors, choroid plexus tumors, and rhabdomyosarcoma: a population-based survey","volume":"59","author":"Magnusson","year":"2012","journal-title":"Pediatr Blood Cancer"},{"issue":"12","key":"2025052211212459500_bib26","doi-asserted-by":"crossref","first-page":"e28585","DOI":"10.1371\/journal.pone.0028585","article-title":"EZH2 codon 641 mutations are common in BCL2-rearranged germinal center B cell lymphomas","volume":"6","author":"Ryan","year":"2011","journal-title":"PLoS One"}],"container-title":["Blood"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/ashpublications.org\/blood\/article-pdf\/145\/21\/2528\/2375363\/blood_bld-2024-026507-main.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/ashpublications.org\/blood\/article-pdf\/145\/21\/2528\/2375363\/blood_bld-2024-026507-main.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,5,22]],"date-time":"2025-05-22T11:21:34Z","timestamp":1747912894000},"score":1,"resource":{"primary":{"URL":"https:\/\/ashpublications.org\/blood\/article\/145\/21\/2528\/536093\/Lymphoid-malignancies-in-patients-with-Shwachman"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,5,22]]},"references-count":26,"journal-issue":{"issue":"21","published-print":{"date-parts":[[2025,5,22]]}},"URL":"https:\/\/doi.org\/10.1182\/blood.2024026507","relation":{},"ISSN":["0006-4971","1528-0020"],"issn-type":[{"value":"0006-4971","type":"print"},{"value":"1528-0020","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2025,5,22]]},"published":{"date-parts":[[2025,5,22]]}}}