{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T01:17:33Z","timestamp":1747185453984,"version":"3.40.5"},"reference-count":26,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2021,1,2]],"date-time":"2021-01-02T00:00:00Z","timestamp":1609545600000},"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":["Int J Lab Hematology"],"published-print":{"date-parts":[[2021,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Introduction<\/jats:title><jats:p>Accurate detection of <jats:italic>GATA1<\/jats:italic> mutation is highly significant in patients with acute myeloid leukemia (AML) and trisomy 21 as it allows optimization of clinical protocol. This study was aimed at (a) enhanced search for <jats:italic>GATA1<\/jats:italic> mutations; and (b) characterization of molecular landscapes for such conditions.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>The DNA samples from 44 patients with newly diagnosed de novo AML with trisomy 21 were examined by fragment analysis and Sanger sequencing of the <jats:italic>GATA1<\/jats:italic> exon 2, complemented by targeted high\u2010throughput sequencing (HTS).<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Acquired <jats:italic>GATA1<\/jats:italic> mutations were identified in 43 cases (98%). Additional mutations in the genes of JAK\/STAT signaling, cohesin complex, and RAS pathway activation were revealed by HTS in 48%, 36%, and 16% of the cases, respectively.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>The <jats:italic>GATA1<\/jats:italic> mutations were reliably determined by fragment analysis and\/or Sanger sequencing in a single PCR amplicon manner. For patients with extremely low blast counts and\/or rare variants, the rapid screening with simple molecular approaches must be complemented with HTS. The JAK\/STAT and RAS pathway<jats:italic>\u2010<\/jats:italic>activating mutations may represent an extra option of targeted therapy with kinase inhibitors.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ijlh.13451","type":"journal-article","created":{"date-parts":[[2021,1,2]],"date-time":"2021-01-02T10:52:16Z","timestamp":1609584736000},"page":"713-723","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["GATA1 mutation analysis and molecular landscape characterization in acute myeloid leukemia with trisomy 21 in pediatric patients"],"prefix":"10.1111","volume":"43","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8580-3499","authenticated-orcid":false,"given":"Agnesa","family":"Panferova","sequence":"first","affiliation":[{"name":"Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology Moscow 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