{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,13]],"date-time":"2026-01-13T04:22:35Z","timestamp":1768278155601,"version":"3.49.0"},"reference-count":20,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2024,11,20]],"date-time":"2024-11-20T00:00:00Z","timestamp":1732060800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Histopathology"],"published-print":{"date-parts":[[2025,3]]},"abstract":"<jats:sec><jats:title>Aim<\/jats:title><jats:p>Tandem\u2010duplications of the <jats:italic>UBTF<\/jats:italic> gene (<jats:italic>UBTF<\/jats:italic>\u2010TDs) have recently been identified as a new genetic driver in young individuals with acute myeloid leukaemia (AML) and myelodysplastic syndrome (MDS). Disease in these newly defined subgroups is characterized by poor response to standard intensive chemotherapy and inferior survival of the affected patients. However, a thorough analysis of bone marrow histomorphology of <jats:italic>UBTF<\/jats:italic>\u2010mutated neoplasia has not been undertaken thus far.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods and results<\/jats:title><jats:p>In this retrospective study, we investigated the characteristic histopathological features of a cohort comprising 14 paediatric MDS patients with an excess of blasts (MDS\u2010EB) and <jats:italic>UBTF<\/jats:italic>\u2010TD. Bone marrow biopsies from these patients revealed hypercellularity and severe dysplasia across all three haematopoietic lineages. In particular, a marked hyperplastic megakaryopoiesis characterized by the presence of frequent micromegakaryocytes and a high number of monolobulated cells forming small clusters was observed. Additionally, erythropoiesis was left\u2010shifted, with numerous blastoid precursors. The granulopoietic precursors displayed prominent UBTF\u2010positive nucleoli.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The unique combination of these histomorphological features strongly suggests a possible <jats:italic>UBTF<\/jats:italic> aberration. It will allow initiating the appropriate genetic testing to confirm the presence of <jats:italic>UBTF<\/jats:italic>\u2010TD and identify potential additional genetic alterations. Such molecular profiling will not only contribute to a better understanding of the disease mechanism, but also facilitate more rational treatment approaches for these high\u2010risk paediatric MDS patients.<\/jats:p><\/jats:sec>","DOI":"10.1111\/his.15378","type":"journal-article","created":{"date-parts":[[2024,11,20]],"date-time":"2024-11-20T10:27:47Z","timestamp":1732098467000},"page":"603-610","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Diagnostic features in paediatric <scp>MDS<\/scp>\u2010<scp>EB<\/scp> with <scp><i>UBTF<\/i><\/scp>\u2010internal tandem duplication: defining a unique subgroup"],"prefix":"10.1111","volume":"86","author":[{"given":"Stephan","family":"Schwarz\u2010Furlan","sequence":"first","affiliation":[{"name":"Department of Pathology Friedrich Alexander University  Erlangen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carole","family":"Gengler","sequence":"additional","affiliation":[{"name":"Department of Pathology Universit\u00e9 Lausanne  Lausanne Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ayami","family":"Yoshimi\u2010Noellke","sequence":"additional","affiliation":[{"name":"Division of Pediatric Hematology and Oncology Department of Pediatrics and Adolescent Medicine University of Freiburg  Freiburg Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guido","family":"Piontek","sequence":"additional","affiliation":[{"name":"Institute of Pathology Ludwig\u2010Maximilians\u2010University  Munich Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuki","family":"Schneider\u2010Kimoto","sequence":"additional","affiliation":[{"name":"Institute of Pathology Ludwig\u2010Maximilians\u2010University  Munich 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