{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T07:09:38Z","timestamp":1790838578767,"version":"4.1.0"},"reference-count":20,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2016,12,20]],"date-time":"2016-12-20T00:00:00Z","timestamp":1482192000000},"content-version":"am","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2016,12,20]],"date-time":"2016-12-20T00:00:00Z","timestamp":1482192000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001665","name":"Agence Nationale de la Recherche","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001665","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000163","name":"Division of Arctic Sciences","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000163","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Cellular Molecular Medi"],"published-print":{"date-parts":[[2017,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Familial platelet disorder with predisposition to acute myeloid leukaemia (<jats:styled-content style=\"fixed-case\">FPD<\/jats:styled-content>\/<jats:styled-content style=\"fixed-case\">AML<\/jats:styled-content>) is characterized by germline <jats:italic><jats:styled-content style=\"fixed-case\">RUNX<\/jats:styled-content>1<\/jats:italic> mutations, thrombocytopaenia, platelet dysfunction and a risk of developing acute myeloid and in rare cases lymphoid T leukaemia. Here, we focus on a case of a man with a familial history of <jats:italic>RUNX1<\/jats:italic><jats:sup>R174Q<\/jats:sup> mutation who developed at the age of 42\u00a0years a T2\u2010<jats:styled-content style=\"fixed-case\">ALL<\/jats:styled-content> and, 2\u00a0years after remission, an <jats:styled-content style=\"fixed-case\">AML<\/jats:styled-content>\u2010M0. Both <jats:styled-content style=\"fixed-case\">AML<\/jats:styled-content>\u2010M0 and T2\u2010<jats:styled-content style=\"fixed-case\">ALL<\/jats:styled-content> blast populations demonstrated a loss of 1p36.32\u201023 and 17q11.2 regions as well as other small deletions, clonal rearrangements of both <jats:styled-content style=\"fixed-case\">TCR<\/jats:styled-content>\u03b3 and TCR\u03b4 and a presence of 18 variants at a frequency of more than 40%. Additional variants were identified only in T2\u2010<jats:styled-content style=\"fixed-case\">ALL<\/jats:styled-content> or in <jats:styled-content style=\"fixed-case\">AML<\/jats:styled-content>\u2010M0 evoking the existence of a common original clone, which gave rise to subclonal populations. Next generation sequencing (NGS) performed on peripheral blood\u2010derived <jats:styled-content style=\"fixed-case\">CD<\/jats:styled-content>34<jats:sup>+<\/jats:sup> cells 5\u00a0years prior to T2\u2010<jats:styled-content style=\"fixed-case\">ALL<\/jats:styled-content> development revealed only the missense <jats:italic>TET2<\/jats:italic><jats:sup>P1962T<\/jats:sup> mutation at a frequency of 1%, which increases to more than 40% in fully transformed leukaemic T2\u2010<jats:styled-content style=\"fixed-case\">ALL<\/jats:styled-content> and <jats:styled-content style=\"fixed-case\">AML<\/jats:styled-content>\u2010M0 clones. This result suggests that <jats:italic><jats:styled-content style=\"fixed-case\">TET<\/jats:styled-content>2<\/jats:italic><jats:sup>P1962T<\/jats:sup> mutation in association with germline <jats:italic><jats:styled-content style=\"fixed-case\">RUNX<\/jats:styled-content>1<\/jats:italic><jats:sup>R174Q<\/jats:sup> mutation leads to amplification of a haematopoietic clone susceptible to acquire other transforming alterations.<\/jats:p>","DOI":"10.1111\/jcmm.13051","type":"journal-article","created":{"date-parts":[[2016,12,20]],"date-time":"2016-12-20T21:52:39Z","timestamp":1482270759000},"page":"1237-1242","source":"Crossref","is-referenced-by-count":11,"title":["Acquired <scp>TET<\/scp>2 mutation in one patient with familial platelet disorder with predisposition to <scp>AML<\/scp> led to the development of pre\u2010leukaemic clone resulting in T2\u2010<scp>ALL<\/scp> and <scp>AML<\/scp>\u2010M0"],"prefix":"10.1111","volume":"21","author":[{"given":"Vladimir T.","family":"Manchev","sequence":"first","affiliation":[{"name":"INSERM UMR 1170 Gustave Roussy Universit\u00e9 Paris\u2010Saclay Equipe Labellis\u00e9e par la Ligue Nationale Contre le Cancer Villejuif France"},{"name":"Universit\u00e9 Paris Diderot Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hind","family":"Bouzid","sequence":"additional","affiliation":[{"name":"INSERM UMR 1170 Gustave Roussy Universit\u00e9 Paris\u2010Saclay Equipe Labellis\u00e9e par la Ligue Nationale Contre le Cancer Villejuif France"},{"name":"Universit\u00e9 Paris Diderot Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Il\u00e9ana","family":"Antony\u2010Debr\u00e9","sequence":"additional","affiliation":[{"name":"INSERM UMR 1170 Gustave Roussy Universit\u00e9 Paris\u2010Saclay Equipe Labellis\u00e9e par la Ligue Nationale Contre le Cancer Villejuif 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