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Mutations in\u00a0<jats:italic><jats:styled-content style=\"fixed-case\">DNMT<\/jats:styled-content>3A<\/jats:italic> are candidate prognostic and classification markers in adults with acute myeloid leukemia (<jats:styled-content style=\"fixed-case\">AML<\/jats:styled-content>) and T\u2010<jats:styled-content style=\"fixed-case\">ALL<\/jats:styled-content> and thus were considered as candidates prognostic markers in pediatric T\u2010<jats:styled-content style=\"fixed-case\">ALL<\/jats:styled-content>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Patients and methods<\/jats:title><jats:p><jats:italic><jats:styled-content style=\"fixed-case\">DNMT<\/jats:styled-content>3A<\/jats:italic> mutational status was investigated in 74 pediatric T\u2010<jats:styled-content style=\"fixed-case\">ALL<\/jats:styled-content> samples collected at diagnosis. We applied high\u2010resolution melt (<jats:styled-content style=\"fixed-case\">HRM<\/jats:styled-content>) analysis and Sanger sequencing to study the hotspot position (R882) within catalytic <jats:styled-content style=\"fixed-case\">MT<\/jats:styled-content>ase domain and exons coding for other functional domains of the protein, known to be mutated in the wide spectrum of hematological malignancies.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We demonstrate a low frequency of mutations in <jats:italic><jats:styled-content style=\"fixed-case\">DNMT<\/jats:styled-content>3A<\/jats:italic> coding sequence in pediatric T\u2010<jats:styled-content style=\"fixed-case\">ALL<\/jats:styled-content> (1.4%, n\u00a0=\u00a01\/74). We identified missense mutation, p.Ala644Thr, which has not been described previously in pediatric T\u2010<jats:styled-content style=\"fixed-case\">ALL<\/jats:styled-content>, but is recurrent in adults with T\u2010<jats:styled-content style=\"fixed-case\">ALL<\/jats:styled-content> and <jats:styled-content style=\"fixed-case\">AML<\/jats:styled-content>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Low frequency of <jats:italic><jats:styled-content style=\"fixed-case\">DNMT<\/jats:styled-content>3A<\/jats:italic> mutations in pediatric T\u2010<jats:styled-content style=\"fixed-case\">ALL<\/jats:styled-content> is in striking contrast to adult T\u2010<jats:styled-content style=\"fixed-case\">ALL<\/jats:styled-content> and renders the necessity for the search of other candidate prognostic markers. Combined Sanger sequencing\u2010<jats:styled-content style=\"fixed-case\">HRM<\/jats:styled-content> approach offers a cost\u2010effective option for genotyping <jats:italic><jats:styled-content style=\"fixed-case\">DNMT<\/jats:styled-content>3A<\/jats:italic> coding sequence, with potential clinical application in other hematological malignancies.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ejh.12964","type":"journal-article","created":{"date-parts":[[2017,9,14]],"date-time":"2017-09-14T07:58:52Z","timestamp":1505375932000},"page":"514-519","source":"Crossref","is-referenced-by-count":6,"title":["Cost\u2010effective screening of <i><scp>DNMT<\/scp>3A<\/i> coding sequence identifies somatic mutation in pediatric T\u2010cell acute lymphoblastic leukemia"],"prefix":"10.1111","volume":"99","author":[{"given":"Bronis\u0142awa","family":"Szarzy\u0144ska\u2010Zawadzka","sequence":"first","affiliation":[{"name":"Institute of Human Genetics Polish Academy of Sciences  Pozna\u0144 Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Kosmalska","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics Polish Academy of Sciences  Pozna\u0144 Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"\u0141ukasz","family":"S\u0119dek","sequence":"additional","affiliation":[{"name":"Department of Microbiology and Immunology Medical University of Silesia in Katowice  Zabrze Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alicja","family":"Sonsala","sequence":"additional","affiliation":[{"name":"Department of Pediatric Hematology and Oncology Medical University of Silesia in Katowice  Zabrze Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Magdalena","family":"Twardoch","sequence":"additional","affiliation":[{"name":"Department of Pediatric Hematology and Oncology Medical University of Silesia in Katowice  Zabrze Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jerzy R.","family":"Kowalczyk","sequence":"additional","affiliation":[{"name":"Department of Pediatric Hematology, Oncology and Transplantology Cytogenetic Laboratory Children's University Hospital Medical University of Lublin  Lublin Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomasz","family":"Szczepa\u0144ski","sequence":"additional","affiliation":[{"name":"Department of Pediatric Hematology and Oncology Medical University of Silesia in Katowice  Zabrze Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Micha\u0142","family":"Witt","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics Polish Academy of Sciences  Pozna\u0144 Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3486-6577","authenticated-orcid":false,"given":"Ma\u0142gorzata","family":"Dawidowska","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics Polish Academy of Sciences  Pozna\u0144 Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,10,5]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(08)60457-2"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2011-03-338707"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/gcc.22416"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.2005.01.1031"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.2008.16.1414"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2012-11-465138"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrc3895"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.1009"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/leu.2013.65"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/leu.2011.342"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1005143"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2011-07-367961"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.2011.35.4894"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/gcc.22039"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/leu.2011.208"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/leu.2017.89"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0065373"},{"key":"e_1_2_8_19_1","first-page":"1783","article-title":"Proposals for the immunological classification of acute leukemias. 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