{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,21]],"date-time":"2026-07-21T10:32:09Z","timestamp":1784629929200,"version":"3.55.0"},"reference-count":24,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2013,10,14]],"date-time":"2013-10-14T00:00:00Z","timestamp":1381708800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Br J Haematol"],"published-print":{"date-parts":[[2014,1]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>The bone marrow failure syndromes (<jats:styled-content style=\"fixed-case\">BMFS<\/jats:styled-content>) are a heterogeneous group of rare blood disorders characterized by inadequate haematopoiesis, clonal evolution, and increased risk of leukaemia. Single nucleotide polymorphism arrays (<jats:styled-content style=\"fixed-case\">SNP<\/jats:styled-content>\u2010A) have been proposed as a tool for surveillance of clonal evolution in <jats:styled-content style=\"fixed-case\">BMFS<\/jats:styled-content>. To better understand the natural history of <jats:styled-content style=\"fixed-case\">BMFS<\/jats:styled-content> and to assess the clinical utility of <jats:styled-content style=\"fixed-case\">SNP<\/jats:styled-content>\u2010A in these disorders, we analysed 124 <jats:styled-content style=\"fixed-case\">SNP<\/jats:styled-content>\u2010A from a comprehensively characterized cohort of 91 patients at our <jats:styled-content style=\"fixed-case\">BMFS<\/jats:styled-content> centre. <jats:styled-content style=\"fixed-case\">SNP<\/jats:styled-content>\u2010A were correlated with medical histories, haematopathology, cytogenetic and molecular data. To assess clonal evolution, longitudinal analysis of SNP\u2010A was performed in 25 patients. We found that acquired copy number\u2010neutral loss of heterozygosity (<jats:styled-content style=\"fixed-case\">CN<\/jats:styled-content>\u2010<jats:styled-content style=\"fixed-case\">LOH<\/jats:styled-content>) was significantly more frequent in acquired aplastic anaemia (<jats:styled-content style=\"fixed-case\">aAA<\/jats:styled-content>) than in other <jats:styled-content style=\"fixed-case\">BMFS<\/jats:styled-content> (odds ratio 12\u00b72, <jats:italic>P<\/jats:italic>\u00a0&lt;\u00a00\u00b701). Homozygosity by descent was most common in congenital <jats:styled-content style=\"fixed-case\">BMFS<\/jats:styled-content>, frequently unmasking autosomal recessive mutations. Copy number variants (<jats:styled-content style=\"fixed-case\">CNV<\/jats:styled-content>s) were frequently polymorphic, and we identified <jats:styled-content style=\"fixed-case\">CNV<\/jats:styled-content>s enriched in neutropenia and <jats:styled-content style=\"fixed-case\">aAA<\/jats:styled-content>. Our results suggest that acquired <jats:styled-content style=\"fixed-case\">CN<\/jats:styled-content>\u2010<jats:styled-content style=\"fixed-case\">LOH<\/jats:styled-content> is a general phenomenon in <jats:styled-content style=\"fixed-case\">aAA<\/jats:styled-content> that is probably mechanistically and prognostically distinct from typical <jats:styled-content style=\"fixed-case\">CN<\/jats:styled-content>\u2010<jats:styled-content style=\"fixed-case\">LOH<\/jats:styled-content> of myeloid malignancies. Our analysis of clinical utility of <jats:styled-content style=\"fixed-case\">SNP<\/jats:styled-content>\u2010A shows the highest yield of detecting new clonal haematopoiesis at diagnosis and at relapse.<\/jats:p>","DOI":"10.1111\/bjh.12603","type":"journal-article","created":{"date-parts":[[2013,10,14]],"date-time":"2013-10-14T06:44:41Z","timestamp":1381733081000},"page":"73-82","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":23,"title":["Single nucleotide polymorphism array analysis of bone marrow failure patients reveals characteristic patterns of genetic changes"],"prefix":"10.1111","volume":"164","author":[{"given":"Daria V.","family":"Babushok","sequence":"first","affiliation":[{"name":"Division of Hematology Department of Medicine Hospital of the University of Pennsylvania Philadelphia PA USA"},{"name":"Comprehensive Bone Marrow Failure Center Division of Hematology Department of Pediatrics Children's Hospital of Philadelphia Philadelphia PA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hongbo M.","family":"Xie","sequence":"additional","affiliation":[{"name":"Center for Biomedical Informatics Children's Hospital of Philadelphia Philadelphia PA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacquelyn J.","family":"Roth","sequence":"additional","affiliation":[{"name":"Division of Human Genetics Department of Pediatrics Children's Hospital of Philadelphia Philadelphia PA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nieves","family":"Perdigones","sequence":"additional","affiliation":[{"name":"Comprehensive Bone Marrow Failure Center Division of Hematology Department of Pediatrics Children's Hospital of Philadelphia Philadelphia PA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Timothy S.","family":"Olson","sequence":"additional","affiliation":[{"name":"Comprehensive Bone Marrow Failure Center Division of Hematology Department of Pediatrics Children's Hospital of Philadelphia Philadelphia PA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joshua D.","family":"Cockroft","sequence":"additional","affiliation":[{"name":"Comprehensive Bone Marrow Failure Center Division of Hematology Department of Pediatrics Children's Hospital of Philadelphia Philadelphia PA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaowu","family":"Gai","sequence":"additional","affiliation":[{"name":"Center for Biomedical Informatics Stritch School of Medicine at the Loyola University Chicago Maywood IL USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juan C.","family":"Perin","sequence":"additional","affiliation":[{"name":"Center for Biomedical Informatics Children's Hospital of Philadelphia Philadelphia PA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yimei","family":"Li","sequence":"additional","affiliation":[{"name":"Division of 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