{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T04:50:45Z","timestamp":1791262245177,"version":"4.1.0"},"reference-count":12,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T00:00:00Z","timestamp":1791244800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T00:00:00Z","timestamp":1791244800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Mol Cell Pediatr"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>UBTF tandem duplications (UBTF-TD) define a recently recognized high-risk subtype of pediatric myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). UBTF-TD myeloid neoplasms are driven by a HOX\/MEIS1 transcriptional program that depends on the interaction between menin and KMT2A. Preclinical studies have shown sensitivity to menin inhibition, but clinical experience in children with MDS remains scarce.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>We report a ten-year-old girl with MDS with excess blasts harboring UBTF-TD together with NRAS and WT1 mutations. During the first cycle of azacitidine and venetoclax, blood counts did not improve, and the patient remained dependent on platelet and red blood cell transfusions. Revumenib was added to the ongoing treatment. Within two weeks, platelet counts and hemoglobin increased markedly, the patient became transfusion independent, and bone marrow blasts cleared. UBTF-TD also became undetectable by molecular testing. The patient subsequently underwent allogeneic hematopoietic stem cell transplantation and remains in complete remission with full donor chimerism one year after transplantation.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>The rapid hematologic recovery and clearance of both bone marrow blasts and detectable UBTF-TD after initiation of revumenib provide clinical evidence that the menin dependency of UBTF-TD myeloid neoplasms can be therapeutically exploited. The timing and depth of the clinical and molecular response were remarkable.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1186\/s40348-026-00264-x","type":"journal-article","created":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T03:59:23Z","timestamp":1791259163000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Menin inhibition in pediatric UBTF-TD myelodysplastic syndrome: molecular rationale and clinical observation"],"prefix":"10.1186","volume":"13","author":[{"given":"Franziska","family":"Rummel","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tabea","family":"Blessing","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Triantafyllia","family":"Brozou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sujal","family":"Ghosh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roland","family":"Meisel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maximilian","family":"Seidl","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6121-4737","authenticated-orcid":false,"given":"Arndt","family":"Borkhardt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,10,6]]},"reference":[{"issue":"6","key":"264_CR1","doi-asserted-by":"publisher","first-page":"374","DOI":"10.4161\/epi.4.6.9449","volume":"4","author":"E Sanij","year":"2009","unstructured":"Sanij E, Hannan RD (2009) The role of UBF in regulating the structure and dynamics of transcriptionally active rDNA chromatin. Epigenetics 4(6):374\u2013382","journal-title":"Epigenetics"},{"issue":"7","key":"264_CR2","doi-asserted-by":"publisher","first-page":"619","DOI":"10.1182\/blood.2023021359","volume":"143","author":"JM Barajas","year":"2024","unstructured":"Barajas JM et al (2024) Acute myeloid leukemias with UBTF tandem duplications are sensitive to menin inhibitors. Blood 143(7):619\u2013630","journal-title":"Blood"},{"issue":"8","key":"264_CR3","doi-asserted-by":"publisher","first-page":"2459","DOI":"10.3324\/haematol.2023.284683","volume":"109","author":"JM Barajas","year":"2024","unstructured":"Barajas JM et al (2024) UBTF tandem duplications in pediatric myelodysplastic syndrome and acute myeloid leukemia: implications for clinical screening and diagnosis. Haematologica 109(8):2459\u20132468","journal-title":"Haematologica"},{"issue":"4","key":"264_CR4","doi-asserted-by":"publisher","first-page":"353","DOI":"10.1097\/PAS.0000000000002350","volume":"49","author":"M Khanlari","year":"2025","unstructured":"Khanlari M et al (2025) Pediatric Myeloid Neoplasms With UBTF Tandem Duplications: Morphologic, Immunophenotypic, and Clinical Characterization. Am J Surg Pathol 49(4):353\u2013362","journal-title":"Am J Surg Pathol"},{"issue":"9","key":"264_CR5","doi-asserted-by":"publisher","first-page":"1962","DOI":"10.3324\/haematol.2024.285644","volume":"110","author":"M Umeda","year":"2025","unstructured":"Umeda M et al (2025) Novel classification system and high-risk categories of pediatric acute myeloid leukemia. Haematologica 110(9):1962\u20131973","journal-title":"Haematologica"},{"issue":"3","key":"264_CR6","doi-asserted-by":"publisher","first-page":"194","DOI":"10.1158\/2643-3230.BCD-21-0160","volume":"3","author":"M Umeda","year":"2022","unstructured":"Umeda M et al (2022) Integrated Genomic Analysis Identifies UBTF Tandem Duplications as a Recurrent Lesion in Pediatric Acute Myeloid Leukemia. Blood Cancer Discov 3(3):194\u2013207","journal-title":"Blood Cancer Discov"},{"issue":"4","key":"264_CR7","doi-asserted-by":"publisher","first-page":"202","DOI":"10.1002\/gcc.23110","volume":"62","author":"T Kaburagi","year":"2023","unstructured":"Kaburagi T et al (2023) UBTF-internal tandem duplication as a novel poor prognostic factor in pediatric acute myeloid leukemia. Genes Chromosomes Cancer 62(4):202\u2013209","journal-title":"Genes Chromosomes Cancer"},{"issue":"Supplement 1","key":"264_CR8","doi-asserted-by":"publisher","first-page":"1355","DOI":"10.1182\/blood-2022-159002","volume":"140","author":"M Erlacher","year":"2022","unstructured":"Erlacher M et al (2022) UBTF tandem Duplications Account for a Third of Advanced Pediatric MDS without Genetic Predisposition to Myeloid Neoplasia. Blood 140(Supplement 1):1355\u20131356","journal-title":"Blood"},{"issue":"2","key":"264_CR9","doi-asserted-by":"publisher","first-page":"987","DOI":"10.18203\/2320-6012.ijrms20250291","volume":"13","author":"AEL Sohliya","year":"2025","unstructured":"Sohliya AEL (2025) Revumenib: the newly approved food drug administration drug for the treatment of relapsed acute leukemia with a KMT2A translocation. Int J Res Med Sci 13(2):987\u2013988","journal-title":"Int J Res Med Sci"},{"issue":"5","key":"264_CR10","doi-asserted-by":"publisher","first-page":"e01101","DOI":"10.1128\/aac.01101-25","volume":"70","author":"C Liu","year":"2026","unstructured":"Liu C et al (2026) Analysis of interactions between posaconazole\/voriconazole and venetoclax. Antimicrob Agents Chemother 70(5):e01101\u2013e01125","journal-title":"Antimicrob Agents Chemother"},{"issue":"11","key":"264_CR11","doi-asserted-by":"publisher","first-page":"2160","DOI":"10.1002\/ajh.70056","volume":"100","author":"P Merli","year":"2025","unstructured":"Merli P et al (2025) Sensitivity of Pediatric Myelodysplastic Syndromes With Excess of Blasts With UBTF -TD to Venetoclax\/Azacitidine. 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Arndt Borkhardt was not involved in the selection of peer reviewers for the manuscript nor any of the subsequent editorial decisions. The other authors declare that they have no conflicts of interest that might be relevant to the contents of this manuscript.","order":3,"name":"Ethics","label":"Competing interests","group":{"name":"EthicsHeading","label":"Declarations"}}],"article-number":"49"}}