{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T22:12:12Z","timestamp":1784585532086,"version":"3.55.0"},"reference-count":18,"publisher":"American Society of Hematology","issue":"12","content-domain":{"domain":["ashpublications.org"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2019,6,25]]},"abstract":"<jats:title>Key Points<\/jats:title>\n               <jats:p>Constitutional mismatch repair deficiency syndrome should be considered in children with acute leukemia and characteristic skin lesions. The high mutation burden of CMMRD-related cancers contributes to treatment resistance, necessitating individualized treatment strategies.<\/jats:p>","DOI":"10.1182\/bloodadvances.2019000358","type":"journal-article","created":{"date-parts":[[2019,6,12]],"date-time":"2019-06-12T16:45:12Z","timestamp":1560357912000},"page":"1795-1798","update-policy":"https:\/\/doi.org\/10.1182\/blood.2019cm0000","source":"Crossref","is-referenced-by-count":10,"title":["B-cell acute lymphoblastic leukemia with high mutation burden presenting in a child with constitutional mismatch repair deficiency"],"prefix":"10.1182","volume":"3","author":[{"given":"Benjamin","family":"Oshrine","sequence":"first","affiliation":[{"name":"Johns Hopkins All Children\u2019s Hospital, St. Petersburg, FL; and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nanette","family":"Grana","sequence":"additional","affiliation":[{"name":"Johns Hopkins All Children\u2019s Hospital, St. Petersburg, FL; and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Colin","family":"Moore","sequence":"additional","affiliation":[{"name":"Johns Hopkins All Children\u2019s Hospital, St. Petersburg, FL; and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johnny","family":"Nguyen","sequence":"additional","affiliation":[{"name":"Johns Hopkins All Children\u2019s Hospital, St. Petersburg, FL; and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melissa","family":"Crenshaw","sequence":"additional","affiliation":[{"name":"Johns Hopkins All Children\u2019s Hospital, St. Petersburg, FL; and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melissa","family":"Edwards","sequence":"additional","affiliation":[{"name":"The Hospital for Sick Children, Toronto, ON, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sumedha","family":"Sudhaman","sequence":"additional","affiliation":[{"name":"The Hospital for Sick Children, Toronto, ON, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Victoria J.","family":"Forster","sequence":"additional","affiliation":[{"name":"The Hospital for Sick Children, Toronto, ON, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Uri","family":"Tabori","sequence":"additional","affiliation":[{"name":"The Hospital for Sick Children, Toronto, ON, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"234","published-online":{"date-parts":[[2019,6,12]]},"reference":[{"key":"2020021109105807000_B1","unstructured":"Howlader\n              N\n            , NooneAM, KrapchoM, et al eds. SEER Cancer Statistics Review, 1975-2014. Bethesda, MD: National Cancer Institute. https:\/\/seer.cancer.gov\/csr\/1975_2014\/. Accessed 18 April 2019."},{"issue":"3","key":"2020021109105807000_B2","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1016\/j.ejmg.2015.10.003","article-title":"Genetic predisposition to acute lymphoblastic leukemia: overview on behalf of the I-BFM ALL Host Genetic Variation Working Group","volume":"59","author":"Kratz","year":"2016","journal-title":"Eur J Med Genet"},{"issue":"3","key":"2020021109105807000_B3","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1016\/j.ejmg.2015.12.008","article-title":"Preexisting conditions in pediatric ALL patients: spectrum, frequency and clinical impact","volume":"59","author":"Sch\u00fctte","year":"2016","journal-title":"Eur J Med Genet"},{"issue":"1","key":"2020021109105807000_B4","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1186\/s13059-016-0893-4","article-title":"DeconstructSigs: delineating mutational processes in single tumors distinguishes DNA repair deficiencies and patterns of carcinoma evolution","volume":"17","author":"Rosenthal","year":"2016","journal-title":"Genome Biol"},{"issue":"1","key":"2020021109105807000_B5","doi-asserted-by":"crossref","first-page":"246","DOI":"10.1016\/j.celrep.2012.12.008","article-title":"Deciphering signatures of mutational processes operative in human cancer","volume":"3","author":"Alexandrov","year":"2013","journal-title":"Cell Reports"},{"issue":"12","key":"2020021109105807000_B6","doi-asserted-by":"crossref","first-page":"654","DOI":"10.1016\/j.ejmg.2016.02.006","article-title":"Treatment-related toxicities in children with acute lymphoblastic leukaemia predisposition syndromes","volume":"59","author":"Schmiegelow","year":"2016","journal-title":"Eur J Med Genet"},{"issue":"3","key":"2020021109105807000_B7","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1016\/j.ejmg.2015.12.014","article-title":"Acute lymphoblastic leukemia and lymphoma in the context of constitutional mismatch repair deficiency syndrome","volume":"59","author":"Ripperger","year":"2016","journal-title":"Eur J Med Genet"},{"issue":"1","key":"2020021109105807000_B8","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1002\/ijc.31300","article-title":"Three molecular pathways model colorectal carcinogenesis in Lynch syndrome","volume":"143","author":"Ahadova","year":"2018","journal-title":"Int J Cancer"},{"issue":"11","key":"2020021109105807000_B9","doi-asserted-by":"crossref","first-page":"e32","DOI":"10.1158\/1078-0432.CCR-17-0574","article-title":"Clinical management and tumor surveillance recommendations of inherited mismatch repair deficiency in childhood","volume":"23","author":"Tabori","year":"2017","journal-title":"Clin Cancer Res"},{"issue":"5","key":"2020021109105807000_B10","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1038\/nrm1907","article-title":"The multifaceted mismatch-repair system","volume":"7","author":"Jiricny","year":"2006","journal-title":"Nat Rev Mol Cell Biol"},{"issue":"19","key":"2020021109105807000_B11","doi-asserted-by":"crossref","first-page":"2206","DOI":"10.1200\/JCO.2016.66.6552","article-title":"Immune checkpoint inhibition for hypermutant glioblastoma multiforme resulting from germline biallelic mismatch repair deficiency","volume":"34","author":"Bouffet","year":"2016","journal-title":"J Clin Oncol"},{"key":"2020021109105807000_B12","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1016\/j.canlet.2017.06.018","article-title":"Immunotherapy holds the key to cancer treatment and prevention in constitutional mismatch repair deficiency (CMMRD) syndrome","volume":"403","author":"Westdorp","year":"2017","journal-title":"Cancer Lett"},{"issue":"5","key":"2020021109105807000_B13","doi-asserted-by":"crossref","first-page":"1042","DOI":"10.1016\/j.cell.2017.09.048","article-title":"Comprehensive analysis of hypermutation in human cancer","volume":"171","author":"Campbell","year":"2017","journal-title":"Cell"},{"issue":"3","key":"2020021109105807000_B14","doi-asserted-by":"crossref","first-page":"371","DOI":"10.1002\/ajh.24987","article-title":"Outcome of patients with relapsed\/refractory acute lymphoblastic leukemia after blinatumomab failure: no change in the level of CD19 expression","volume":"93","author":"Jabbour","year":"2018","journal-title":"Am J Hematol"},{"issue":"67","key":"2020021109105807000_B15","doi-asserted-by":"crossref","first-page":"112103","DOI":"10.18632\/oncotarget.22783","article-title":"Hypermutation and microsatellite instability in gastrointestinal cancers","volume":"8","author":"Yuza","year":"2017","journal-title":"Oncotarget"},{"issue":"6257","key":"2020021109105807000_B16","doi-asserted-by":"crossref","first-page":"158","DOI":"10.1126\/science.aad4140","article-title":"CANCER. The odds of immunotherapy success","volume":"350","author":"Gubin","year":"2015","journal-title":"Science"},{"issue":"5","key":"2020021109105807000_B17","doi-asserted-by":"crossref","first-page":"853","DOI":"10.1016\/j.ccell.2018.04.001","article-title":"Tumor mutational burden and efficacy of nivolumab monotherapy and in combination with ipilimumab in small-cell lung cancer [published correction appears in Cancer Cell 2019;35(2):329]","volume":"33","author":"Hellmann","year":"2018","journal-title":"Cancer Cell"},{"issue":"6","key":"2020021109105807000_B18","doi-asserted-by":"crossref","first-page":"848","DOI":"10.1038\/bmt.2015.353","article-title":"Successful matched sibling cord blood transplant for ALL in a child with constitutional mismatch repair deficiency syndrome","volume":"51","author":"Heath","year":"2016","journal-title":"Bone Marrow Transplant"}],"container-title":["Blood Advances"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/ashpublications.org\/bloodadvances\/article-pdf\/3\/12\/1795\/1555071\/advancesadv2019000358.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"http:\/\/ashpublications.org\/bloodadvances\/article-pdf\/3\/12\/1795\/1555071\/advancesadv2019000358.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,2,11]],"date-time":"2020-02-11T09:47:54Z","timestamp":1581414474000},"score":1,"resource":{"primary":{"URL":"https:\/\/ashpublications.org\/bloodadvances\/article\/3\/12\/1795\/261341\/Bcell-acute-lymphoblastic-leukemia-with-high"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,6,12]]},"references-count":18,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2019,6,25]]}},"URL":"https:\/\/doi.org\/10.1182\/bloodadvances.2019000358","relation":{},"ISSN":["2473-9529","2473-9537"],"issn-type":[{"value":"2473-9529","type":"print"},{"value":"2473-9537","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,6,12]]}}}