{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,31]],"date-time":"2026-08-31T14:18:29Z","timestamp":1788185909843,"version":"build-2803163510"},"reference-count":10,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2026,7,30]],"date-time":"2026-07-30T00:00:00Z","timestamp":1785369600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2026,7,30]],"date-time":"2026-07-30T00:00:00Z","timestamp":1785369600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/100018502","name":"Kanazawa University","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100018502","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Int J Hematol"],"published-print":{"date-parts":[[2026,9]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    We describe a unique case of\n                    <jats:italic>SAMD9<\/jats:italic>\n                    -associated myelodysplastic syndrome (MDS) with monosomy 7 that evolved over 16\u00a0years into\n                    <jats:italic>BCR::ABL1<\/jats:italic>\n                    -positive acute myeloid leukemia (AML) and subsequently manifested as B-cell acute lymphoblastic leukemia (B-ALL). Genomic analysis at AML diagnosis revealed a germline\n                    <jats:italic>SAMD9<\/jats:italic>\n                    mutation together with somatic\n                    <jats:italic>RUNX1<\/jats:italic>\n                    and\n                    <jats:italic>PPM1D<\/jats:italic>\n                    mutations, supporting stepwise clonal evolution, with\n                    <jats:italic>BCR::ABL1<\/jats:italic>\n                    emerging as a late leukemogenic event. The dominant leukemic population at AML onset showed myeloid morphology and immunophenotype, whereas a minor CD19\n                    <jats:sup>+<\/jats:sup>\n                    CD10\n                    <jats:sup>+<\/jats:sup>\n                    population was already detectable. Following venetoclax and azacitidine therapy, the dominant leukemic phenotype shifted to B-ALL while retaining\n                    <jats:italic>BCR::ABL1<\/jats:italic>\n                    positivity. Detection of the Philadelphia chromosome in mature neutrophils at both AML onset and ALL relapse supported multilineage involvement of a multipotent\n                    <jats:italic>BCR::ABL1<\/jats:italic>\n                    -positive clone. Ponatinib achieved disease control. This case highlights late acquisition of\n                    <jats:italic>BCR::ABL1<\/jats:italic>\n                    during SAMD9-associated clonal evolution and therapy-driven phenotypic shift within a shared Ph-positive leukemic stem-cell hierarchy.\n                  <\/jats:p>","DOI":"10.1007\/s12185-026-04248-5","type":"journal-article","created":{"date-parts":[[2026,7,30]],"date-time":"2026-07-30T18:41:45Z","timestamp":1785436905000},"page":"443-446","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Late acquisition of BCR::ABL1 during clonal evolution of SAMD9-associated MDS with phenotypic shift from AML to B-ALL"],"prefix":"10.1007","volume":"124","author":[{"given":"Yusuke","family":"Nakata","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Hiratsuka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takeshi","family":"Yoroidaka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wakana","family":"Takahashi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Itaru","family":"Nishikawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masataka","family":"Sakashita","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shinya","family":"Yamada","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroki","family":"Mizumaki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akiyo","family":"Yoshida","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tatsuya","family":"Imi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroyuki","family":"Maruyama","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroyuki","family":"Takamatsu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kohei","family":"Hosokawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yasuhito","family":"Nannya","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seishi","family":"Ogawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6533-1594","authenticated-orcid":false,"given":"Toshihiro","family":"Miyamoto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,7,30]]},"reference":[{"key":"4248_CR1","doi-asserted-by":"crossref","unstructured":"Papaemmanuil E, Gerstung M, Bullinger L, Gaidzik VI, Paschka P, Roberts ND, et al. Genomic classification and prognosis in acute myeloid leukemia. N Engl J Med. 2016;374(23):2209\u20132221.","DOI":"10.1056\/NEJMoa1516192"},{"issue":"26","key":"4248_CR2","doi-asserted-by":"publisher","first-page":"2488","DOI":"10.1056\/NEJMoa1408617","volume":"371","author":"S Jaiswal","year":"2014","unstructured":"Jaiswal S, Fontanillas P, Flannick J, Manning A, Grauman PV, Mar BG, et al. Age-related clonal hematopoiesis associated with adverse outcomes. N Engl J Med. 2014;371(26):2488\u201398.","journal-title":"N Engl J Med"},{"issue":"11","key":"4248_CR3","doi-asserted-by":"publisher","first-page":"1200","DOI":"10.1182\/blood.2022015850","volume":"140","author":"DA Arber","year":"2022","unstructured":"Arber DA, Orazi A, Hasserjian RP, Borowitz MJ, Calvo KR, Kvasnicka HM, et al. International Consensus Classification of myeloid neoplasms and acute leukemias: integrating morphologic, clinical, and genomic data. 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Bone Marrow Res. 2012;2012:406796.","journal-title":"Bone Marrow Res"},{"issue":"3","key":"4248_CR6","doi-asserted-by":"publisher","first-page":"701","DOI":"10.1182\/blood.V64.3.701.701","volume":"64","author":"S Stass","year":"1984","unstructured":"Stass S, Mirro J, Melvin S, Pui CH, Murphy SB, Williams D. Lineage switch in acute leukemia. Blood. 1984;64(3):701\u20136.","journal-title":"Blood"},{"issue":"4","key":"4248_CR7","doi-asserted-by":"publisher","first-page":"437","DOI":"10.1182\/blood.2024026655","volume":"146","author":"S Silbert","year":"2025","unstructured":"Silbert S, Rankin AW, Hoang CN, Semchenkova A, Myers RM, Zerkalenkova E, et al. Project EVOLVE: an international analysis of postimmunotherapy lineage switch, an emergent form of relapse in leukemia. Blood. 2025;146(4):437\u201355.","journal-title":"Blood"},{"issue":"6","key":"4248_CR8","doi-asserted-by":"publisher","first-page":"1635","DOI":"10.1007\/s00277-021-04483-2","volume":"100","author":"T Li","year":"2021","unstructured":"Li T, Chen H, Zhang Y, Zeng Y, Zheng L. Very rare lineage switch from acute myeloid leukemia with BCR-ABL1 to B-lymphoid leukemia. Ann Hematol. 2021;100(6):1635\u20136.","journal-title":"Ann Hematol"},{"issue":"7","key":"4248_CR9","doi-asserted-by":"publisher","first-page":"1703","DOI":"10.1038\/s41375-022-01613-1","volume":"36","author":"JD Khoury","year":"2022","unstructured":"Khoury JD, Solary E, Abla O, Akkari Y, Alaggio R, Apperley JF, et al. The 5th edition of the World Health Organization classification of haematolymphoid tumours: myeloid and histiocytic\/dendritic neoplasms. Leukemia. 2022;36(7):1703\u201319.","journal-title":"Leukemia"},{"issue":"7","key":"4248_CR10","first-page":"1186","volume":"49","author":"B Tesi","year":"2017","unstructured":"Tesi B, Davidsson J, Voss M, Rahikkala E, Holmes TD, Chiang SCC, et al. Gain-of-function SAMD9 mutations cause a syndrome of cytopenia and predisposition to myelodysplastic syndrome. Nat Genet. 2017;49(7):1186\u201393.","journal-title":"Nat Genet"}],"container-title":["International Journal of Hematology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12185-026-04248-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s12185-026-04248-5","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12185-026-04248-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,31]],"date-time":"2026-08-31T13:56:32Z","timestamp":1788184592000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s12185-026-04248-5"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,7,30]]},"references-count":10,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2026,9]]}},"alternative-id":["4248"],"URL":"https:\/\/doi.org\/10.1007\/s12185-026-04248-5","relation":{},"ISSN":["0925-5710","1865-3774"],"issn-type":[{"value":"0925-5710","type":"print"},{"value":"1865-3774","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,7,30]]},"assertion":[{"value":"21 April 2026","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"29 June 2026","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"30 June 2026","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"30 July 2026","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"T.M., Y.N., and S.O. have received honoraria for lectures from Abbvie Pharmaceutical Co. and Ohtsuka Pharmaceutical Co. Y.N. has received consultation fee from Ohtsuka Pharmaceutical Co. S.O. has received research funding from AMED and JSPS; grants from Chordia Therapeutics Inc., Eisai Co., Ltd., and Nanpuh Hospital; consulting fees from Chordia Therapeutics Inc., Eisai Co., Ltd., and Montage Bio, Inc., and holds stock in Asahi Genomics Inc. The other authors declare no conflicts of interest.","order":1,"name":"Ethics","label":"Conflict of interest","group":{"name":"EthicsHeading","label":"Declarations"}}]}}