{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,20]],"date-time":"2026-01-20T06:28:17Z","timestamp":1768890497665,"version":"3.49.0"},"reference-count":10,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2025,10,28]],"date-time":"2025-10-28T00:00:00Z","timestamp":1761609600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2025,10,28]],"date-time":"2025-10-28T00:00:00Z","timestamp":1761609600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"name":"Tokai University, Isehara Campus"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Int J Hematol"],"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    De novo Ph-positive MDS with the micro\n                    <jats:italic>BCR::ABL1<\/jats:italic>\n                    (e19a2\/p230) transcript is rare. Here, we report a case of MDS with multilineage dysplasia in an 86-year-old woman. Reverse transcription polymerase chain reaction (RT-PCR) showed the following karyotype: 46, XX, t(9;22)(q34.1;q11.2), i(17)(q10) [20], and p230\n                    <jats:italic>BCR::ABL1<\/jats:italic>\n                    . Targeted NGS at diagnosis revealed mutations in\n                    <jats:italic>CSF3R<\/jats:italic>\n                    ,\n                    <jats:italic>BCOR<\/jats:italic>\n                    ,\n                    <jats:italic>SRSF2<\/jats:italic>\n                    , and\n                    <jats:italic>ASXL1<\/jats:italic>\n                    . Low-dose dasatinib (20\u00a0mg\/day) reduced\n                    <jats:italic>BCR::ABL1<\/jats:italic>\n                    levels (FISH negative, RT-PCR positive), but had no effect on anemia, dysplasia, or transfusion frequency. At six months, panel results showed loss of all mutations except\n                    <jats:italic>ASXL1<\/jats:italic>\n                    , as well as clearance of Ph-positive subclones. However, an\n                    <jats:italic>ASXL1<\/jats:italic>\n                    founder clone persisted. Post-treatment chromosome analysis was not feasible because of poor cell growth. Serial genomics suggested that Ph positivity was a late\/secondary event on a pre-existing\n                    <jats:italic>ASXL1<\/jats:italic>\n                    -mutant background. In Ph-positive de novo MDS,\n                    <jats:italic>BCR::ABL1<\/jats:italic>\n                    transcript responses alone may not reflect disease control when an adverse founder clone persists. Integrating panel-based NGS with fusion transcript monitoring may improve therapeutic decision-making and prognostic assessment.\n                  <\/jats:p>","DOI":"10.1007\/s12185-025-04083-0","type":"journal-article","created":{"date-parts":[[2025,10,28]],"date-time":"2025-10-28T14:52:42Z","timestamp":1761663162000},"page":"122-126","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Philadelphia chromosome-positive de novo myelodysplastic syndrome with the p230 BCR::ABL1 fusion gene: a case report"],"prefix":"10.1007","volume":"123","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6055-8968","authenticated-orcid":false,"given":"Hidetsugu","family":"Kawai","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hidehito","family":"Fukushima","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yasuhito","family":"Nannya","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Makoto","family":"Onizuka","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoshiaki","family":"Ogawa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroshi","family":"Kawada","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2025,10,28]]},"reference":[{"key":"4083_CR1","first-page":"423","volume":"81","author":"A Cuneo","year":"1996","unstructured":"Cuneo A, Ferrant A, Michaux JL, Demuynck H, Boogaerts M, Louwagie A, et al. Philadelphia chromosome-positive acute myeloid leukemia: cytoimmunologic and cytogenetic features. Haematologica. 1996;81:423\u20137.","journal-title":"Haematologica"},{"issue":"6","key":"4083_CR2","doi-asserted-by":"publisher","first-page":"579","DOI":"10.1016\/j.leukres.2003.10.027","volume":"28","author":"YK Keung","year":"2004","unstructured":"Keung YK, Beaty M, Powell BL, Molnar I, Buss D, Pettenati M. Philadelphia chromosome positive myelodysplastic syndrome and acute myeloid leukemia-retrospective study and review of literature. Leuk Res. 2004;28(6):579\u201386.","journal-title":"Leuk Res"},{"issue":"7","key":"4083_CR3","doi-asserted-by":"publisher","first-page":"2410","DOI":"10.1182\/blood.V88.7.2410.bloodjournal8872410","volume":"88","author":"F Pane","year":"1996","unstructured":"Pane F, Frigeri F, Sindona M, Luciano L, Ferrara F, Cimino R, et al. Neutrophilic-chronic myeloid leukemia: a distinct disease with a specific molecular marker (BCR\/ABL with C3\/A2 junction). Blood. 1996;88(7):2410\u20134.","journal-title":"Blood"},{"issue":"1","key":"4083_CR4","doi-asserted-by":"publisher","first-page":"2220220","DOI":"10.1080\/16078454.2023.2220220","volume":"28","author":"J Ma","year":"2023","unstructured":"Ma J, Guan J, Chen B. De nove Philadelphia chromosome-positive myelodysplastic syndromes with complex karyotype and p230 BCR::ABL fusion transcript: a case report with a literature review. Hematology. 2023;28(1):2220220.","journal-title":"Hematology"},{"issue":"46","key":"4083_CR5","doi-asserted-by":"publisher","DOI":"10.1097\/MD.0000000000031874","volume":"101","author":"S Qi","year":"2022","unstructured":"Qi S, Wang F, Liu Y, Zhao J, Wang Y, Huang S. TKIs combined with chemotherapy followed by allo-HSCT in Philadelphia chromosome-positive myelodysplastic syndrome: a case report and literature review. Medicine (Baltimore). 2022;101(46):e31874.","journal-title":"Medicine (Baltimore)"},{"issue":"1","key":"4083_CR6","doi-asserted-by":"publisher","DOI":"10.1002\/cam4.6871","volume":"13","author":"L Yang","year":"2024","unstructured":"Yang L, Wei X, Gong Y. Prognosis and risk factors for ASXL1 mutations in patients with newly diagnosed acute myeloid leukemia and myelodysplastic syndrome. Cancer Med. 2024;13(1):e6871.","journal-title":"Cancer Med"},{"issue":"26","key":"4083_CR7","doi-asserted-by":"publisher","first-page":"2496","DOI":"10.1056\/NEJMoa1013343","volume":"364","author":"R Bejar","year":"2011","unstructured":"Bejar R, Stevenson K, Abdel-Wahab O, Galili N, Nilsson B, Garcia-Manero G, et al. Clinical effect of point mutations in myelodysplastic syndromes. N Engl J Med. 2011;364(26):2496\u2013506.","journal-title":"N Engl J Med"},{"issue":"22","key":"4083_CR8","doi-asserted-by":"publisher","first-page":"3616","DOI":"10.1182\/blood-2013-08-518886","volume":"122","author":"E Papaemmanuil","year":"2013","unstructured":"Papaemmanuil E, Gerstung M, Malcovati L, Tauro S, Gundem G, Van Loo P, et al. Clinical and biological implications of driver mutations in myelodysplastic syndromes. Blood. 2013;122(22):3616\u201327.","journal-title":"Blood"},{"key":"4083_CR9","doi-asserted-by":"publisher","first-page":"942","DOI":"10.1038\/ng.2696","volume":"45","author":"H Makishima","year":"2013","unstructured":"Makishima H, Yoshida K, Nguyen N, Przychodzen B, Sanada M, Okuno Y, et al. Somatic SETBP1 mutations in myeloid malignancies. Nat Genet. 2013;45:942\u20136.","journal-title":"Nat Genet"},{"issue":"12","key":"4083_CR10","doi-asserted-by":"publisher","first-page":"14251","DOI":"10.18632\/oncotarget.7350","volume":"7","author":"R Kanagal-Shamanna","year":"2016","unstructured":"Kanagal-Shamanna R, Luthra R, Yin CC, Patel KP, Takahashi K, Lu X, et al. Myeloid neoplasms with isolated isochromosome 17q demonstrate a high frequency of mutations in SETBP1, SRSF2, ASXL1 and NRAS. Oncotarget. 2016;7(12):14251\u20138.","journal-title":"Oncotarget"}],"container-title":["International Journal of Hematology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12185-025-04083-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s12185-025-04083-0","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12185-025-04083-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,1,19]],"date-time":"2026-01-19T15:03:00Z","timestamp":1768834980000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s12185-025-04083-0"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,10,28]]},"references-count":10,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2026,1]]}},"alternative-id":["4083"],"URL":"https:\/\/doi.org\/10.1007\/s12185-025-04083-0","relation":{},"ISSN":["0925-5710","1865-3774"],"issn-type":[{"value":"0925-5710","type":"print"},{"value":"1865-3774","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,10,28]]},"assertion":[{"value":"27 April 2025","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"18 September 2025","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"2 October 2025","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"28 October 2025","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors declare no conflicts of interest in association with the present study.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}},{"value":"Patient samples of peripheral blood cells and bone marrow were obtained after receiving written informed consent. The samples were obtained in accordance with the Declaration of Helsinki and were approved by the Tokai University Committee on Clinical Investigation (permit number: #15I-26).","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Informed consent"}}]}}