{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,24]],"date-time":"2026-04-24T00:42:42Z","timestamp":1776991362424,"version":"3.51.4"},"reference-count":39,"publisher":"BMJ","issue":"5","funder":[{"name":"DBT Wellcome Trust India Alliance","award":["IA\/CPHS\/21\/1\/505947"],"award-info":[{"award-number":["IA\/CPHS\/21\/1\/505947"]}]},{"DOI":"10.13039\/501100001411","name":"Indian Council of Medical Research","doi-asserted-by":"publisher","award":["5\/13\/9\/NP\/ICRC\/2020\/NCD-III"],"award-info":[{"award-number":["5\/13\/9\/NP\/ICRC\/2020\/NCD-III"]}],"id":[{"id":"10.13039\/501100001411","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["J Clin Pathol"],"accepted":{"date-parts":[[2026,3,1]]},"published-print":{"date-parts":[[2026,5]]},"abstract":"<jats:sec>\n                    <jats:title>Aims<\/jats:title>\n                    <jats:p>\n                      Although acute myeloid leukaemia (AML), myelodysplasia-related (AML-MR), can be defined solely by molecular abnormalities, legacy studies did not analyse the\n                      <jats:italic>KMT2A<\/jats:italic>\n                      gene. The\n                      <jats:italic>KMT2A<\/jats:italic>\n                      -partial tandem duplication (\n                      <jats:italic>KMT2A<\/jats:italic>\n                      -PTD) is described in myelodysplastic neoplasms (MDS) as well as AML. We describe the clinical, morphological, immunophenotypic and molecular features of AML harbouring\n                      <jats:italic>KMT2A-<\/jats:italic>\n                      PTD.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      We studied 802 adult AML patients, for whom next-generation sequencing- based mutation and copy number analysis were available. For the patients harbouring\n                      <jats:italic>KMT2A<\/jats:italic>\n                      -PTD, the immunophenotypic analysis including measurable residual disease (MRD), mutational landscape and the patient outcomes were analysed.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      We identified 45 patients of de novo and secondary AML harbouring\n                      <jats:italic>KMT2A<\/jats:italic>\n                      -PTD. Morphological dysplasia and immunophenotypic abnormalities, described in MDS, were observed in 35.6% and 40% of de novo cases respectively. Furthermore, 44% of AML with\n                      <jats:italic>KMT2A<\/jats:italic>\n                      -PTD could be diagnosed as AML-MR based on cytogenetics or genomics. We observed progenitor abnormalities, commonly aberrant CD7 (33%) and CD15 (59%), and granulocytic abnormalities like loss of side scatter (50%), asynchronous maturation patterns and loss of CD177 in mature granulocytes. Frequent mutations involving\n                      <jats:italic>IDH2<\/jats:italic>\n                      (30% of which were R172),\n                      <jats:italic>FLT3<\/jats:italic>\n                      (32% each),\n                      <jats:italic>RUNX1<\/jats:italic>\n                      (29%),\n                      <jats:italic>DNMT3A<\/jats:italic>\n                      and\n                      <jats:italic>U2AF1<\/jats:italic>\n                      (24% each) were noted. We also found that more than 25% of patients did not achieve morphological remission, and the remaining 60% were MRD positive. The outcomes of AML with\n                      <jats:italic>KMT2A<\/jats:italic>\n                      -PTD with or without MR-associated abnormalities were similar.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      AML harbouring\n                      <jats:italic>KMT2A<\/jats:italic>\n                      -PTD frequently displays MR immunophenotypic abnormalities and is frequently associated with AML-MR type mutations. In addition, they have similar outcomes as compared with AML-MR.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1136\/jcp-2025-210460","type":"journal-article","created":{"date-parts":[[2026,3,12]],"date-time":"2026-03-12T17:20:23Z","timestamp":1773336023000},"page":"325-331","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":1,"title":["Acute myeloid leukaemia (AML) harbouring\n                    <i>KMT2A<\/i>\n                    -PTD: should it be considered as a myelodysplasia-related abnormality?"],"prefix":"10.1136","volume":"79","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3688-965X","authenticated-orcid":false,"given":"Narasimhapriyan","family":"Kannan","sequence":"first","affiliation":[{"name":"Department of Haematopathology, ACTREC, Navi Mumbai, India"},{"name":"Homi Bhabha National Institute, Mumbai, 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