{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,19]],"date-time":"2026-05-19T14:24:51Z","timestamp":1779200691730,"version":"3.51.4"},"reference-count":25,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2021,5,17]],"date-time":"2021-05-17T00:00:00Z","timestamp":1621209600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2021,5,17]],"date-time":"2021-05-17T00:00:00Z","timestamp":1621209600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81771779"],"award-info":[{"award-number":["81771779"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"name":"General Program of Health and Family Planning Commission of Shanghai City","award":["201740177"],"award-info":[{"award-number":["201740177"]}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Med Genomics"],"published-print":{"date-parts":[[2021,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>The nucleoporin 98 (<jats:italic>NUP98<\/jats:italic>)-paired related homeobox 1 (<jats:italic>PMX1<\/jats:italic>) fusion gene, which results from t(1;11)(q23;p15), is rare in patients with acute myeloid leukemia (AML). Currently, only two cases of chronic myeloid leukemia in the accelerated phase or blast crisis and three cases of therapy-related AML have been reported. Here, we first report a patient with de novo AML carrying the <jats:italic>NUP98-PMX1<\/jats:italic> fusion gene.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Case presentation<\/jats:title>\n                <jats:p>A 49-year-old man diagnosed with AML presented the karyotype 46,XY,t(1;11)(q23;p15)[20] in bone marrow (BM) cells. Fluorescence in situ hybridization analysis using dual-color break-apart probes showed the typical signal pattern. Reverse transcription-polymerase chain reaction (RT-PCR) analysis suggested the presence of the <jats:italic>NUP98-PMX1<\/jats:italic> fusion transcript. The patient received idarubicin and cytarabine as induction chemotherapy. After 3\u00a0weeks, the BM aspirate showed complete remission, and the RT-PCR result for the <jats:italic>NUP98-PMX1<\/jats:italic> fusion gene was negative. Subsequently, the patient received three cycles of high-dose Ara-c as consolidation chemotherapy, after which he underwent partially matched (human leukocyte antigen\u2013DP locus mismatch) unrelated allogeneic hematopoietic stem cell transplantation (HSCT). The follow-up period ended on September 30, 2020 (6\u00a0months after HSCT), and the patient exhibited no recurrence or transplantation-related complications.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusion<\/jats:title>\n                <jats:p>This is the first report of a patient with de novo AML carrying the <jats:italic>NUP98-PMX1<\/jats:italic> fusion gene. The reported case may contribute to a more comprehensive profile of the <jats:italic>NUP98-PMX1<\/jats:italic> rearrangement, but mechanistic studies are warranted to fully understand the role of this fusion gene in leukemia pathogenesis.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s12920-021-00979-y","type":"journal-article","created":{"date-parts":[[2021,5,17]],"date-time":"2021-05-17T21:02:40Z","timestamp":1621285360000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["First case report of a NUP98-PMX1 rearrangement in de novo acute myeloid leukemia and literature review"],"prefix":"10.1186","volume":"14","author":[{"given":"Weijia","family":"Fu","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aijie","family":"Huang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hui","family":"Cheng","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yanrong","family":"Luo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lei","family":"Gao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gusheng","family":"Tang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jianmin","family":"Yang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jianmin","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiong","family":"Ni","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2021,5,17]]},"reference":[{"issue":"2","key":"979_CR1","doi-asserted-by":"publisher","first-page":"215","DOI":"10.1016\/0092-8674(95)90331-3","volume":"81","author":"A Radu","year":"1995","unstructured":"Radu A, Moore MS, Blobel G. The peptide repeat domain of nucleoporin Nup98 functions as a docking site in transport across the nuclear pore complex. Cell. 1995;81(2):215\u201322. https:\/\/doi.org\/10.1016\/0092-8674(95)90331-3.","journal-title":"Cell"},{"issue":"20","key":"979_CR2","doi-asserted-by":"publisher","first-page":"11370","DOI":"10.1073\/pnas.96.20.11370","volume":"96","author":"JS Rosenblum","year":"1999","unstructured":"Rosenblum JS, Blobel G. Autoproteolysis in nucleoporin biogenesis. Proc Natl Acad Sci. 1999;96(20):11370\u20135. https:\/\/doi.org\/10.1073\/pnas.96.20.11370.","journal-title":"Proc Natl Acad Sci"},{"issue":"2","key":"979_CR3","doi-asserted-by":"publisher","first-page":"237","DOI":"10.1083\/jcb.145.2.237","volume":"145","author":"CE Pritchard","year":"1999","unstructured":"Pritchard CE, Fornerod M, Kasper LH, et al. RAE1 is a shuttling mRNA export factor that binds to a GLEBS-like NUP98 motif at the nuclear pore complex through multiple domains. J Cell Biol. 1999;145(2):237\u201354. https:\/\/doi.org\/10.1083\/jcb.145.2.237.","journal-title":"J Cell Biol"},{"key":"979_CR4","doi-asserted-by":"publisher","DOI":"10.1182\/blood.2020007093","author":"NL Michmerhuizen","year":"2020","unstructured":"Michmerhuizen NL, Klco JM, Mullighan CG. Mechanistic insights and potential therapeutic targets for NUP98-rearranged hematologic malignancies. Blood. 2020. https:\/\/doi.org\/10.1182\/blood.2020007093.","journal-title":"Blood"},{"issue":"2","key":"979_CR5","doi-asserted-by":"publisher","first-page":"741","DOI":"10.1182\/blood.V94.2.741","volume":"94","author":"T Nakamura","year":"1999","unstructured":"Nakamura T, Yamazaki Y, Hatano Y, et al. NUP98 is fused to PMX1 homeobox gene in human acute myelogenous leukemia with chromosome translocation t(1;11)(q23;p15). Blood. 1999;94(2):741\u20137. https:\/\/doi.org\/10.1182\/blood.V94.2.741.","journal-title":"Blood"},{"issue":"1","key":"979_CR6","doi-asserted-by":"publisher","first-page":"42","DOI":"10.1016\/j.cancergencyto.2007.06.012","volume":"178","author":"L Zhang","year":"2007","unstructured":"Zhang L, Alsabeh R, Mecucci C, et al. Rare t(1;11)(q23;p15) in therapy-related myelodysplastic syndrome evolving into acute myelomonocytic leukemia: a case report and review of the literature. Cancer Genet Cytogenet. 2007;178(1):42\u20138. https:\/\/doi.org\/10.1016\/j.cancergencyto.2007.06.012.","journal-title":"Cancer Genet Cytogenet"},{"issue":"4","key":"979_CR7","doi-asserted-by":"publisher","first-page":"339","DOI":"10.1002\/gcc.20092","volume":"41","author":"YN Kobzev","year":"2004","unstructured":"Kobzev YN, Martinez-Climent J, Lee S, et al. Analysis of translocations that involve theNUP98 gene in patients with 11p15 chromosomal rearrangements. Genes Chromosom Cancer. 2004;41(4):339\u201352. https:\/\/doi.org\/10.1002\/gcc.20092.","journal-title":"Genes Chromosom Cancer"},{"issue":"9","key":"979_CR8","doi-asserted-by":"publisher","first-page":"4584","DOI":"10.1158\/0008-5472.CAN-05-3101","volume":"66","author":"XT Bai","year":"2006","unstructured":"Bai XT, Gu BW, Yin T, et al. Trans-repressive effect of NUP98-PMX1 on PMX1-regulated c-FOS gene through recruitment of histone deacetylase 1 by FG repeats. Cancer Res. 2006;66(9):4584\u201390. https:\/\/doi.org\/10.1158\/0008-5472.CAN-05-3101.","journal-title":"Cancer Res"},{"key":"979_CR9","doi-asserted-by":"publisher","first-page":"1609128","DOI":"10.1155\/2019\/1609128","volume":"2019","author":"N Niktoreh","year":"2019","unstructured":"Niktoreh N, Walter C, Zimmermann M, et al. Mutated WT1, FLT3-ITD, and NUP98-NSD1 fusion in various combinations define a poor prognostic group in pediatric acute myeloid leukemia. J Oncol. 2019;2019:1609128. https:\/\/doi.org\/10.1155\/2019\/1609128.","journal-title":"J Oncol"},{"issue":"4","key":"979_CR10","doi-asserted-by":"publisher","first-page":"974","DOI":"10.1038\/leu.2016.361","volume":"31","author":"V Bisio","year":"2017","unstructured":"Bisio V, Zampini M, Tregnago C, et al. NUP98-fusion transcripts characterize different biological entities within acute myeloid leukemia: a report from the AIEOP-AML group. Leukemia. 2017;31(4):974\u20137. https:\/\/doi.org\/10.1038\/leu.2016.361.","journal-title":"Leukemia"},{"issue":"3","key":"979_CR11","doi-asserted-by":"publisher","first-page":"530","DOI":"10.1038\/s41591-019-0369-7","volume":"25","author":"H Bolouri","year":"2019","unstructured":"Bolouri H, Farrar JE, Triche T Jr, et al. Publisher correction: the molecular landscape of pediatric acute myeloid leukemia reveals recurrent structural alterations and age-specific mutational interactions. Nat Med. 2019;25(3):530. https:\/\/doi.org\/10.1038\/s41591-019-0369-7.","journal-title":"Nat Med"},{"issue":"15","key":"979_CR12","doi-asserted-by":"publisher","first-page":"2400","DOI":"10.1182\/blood-2014-04-570929","volume":"124","author":"F Ostronoff","year":"2014","unstructured":"Ostronoff F, Othus M, Gerbing RB, et al. NUP98\/NSD1 and FLT3\/ITD coexpression is more prevalent in younger AML patients and leads to induction failure: a COG and SWOG report. Blood. 2014;124(15):2400\u20137. https:\/\/doi.org\/10.1182\/blood-2014-04-570929.","journal-title":"Blood"},{"issue":"7","key":"979_CR13","doi-asserted-by":"publisher","first-page":"1303","DOI":"10.1038\/leu.2009.25","volume":"23","author":"WC Chou","year":"2009","unstructured":"Chou WC, Chen CY, Hou HA, et al. Acute myeloid leukemia bearing t(7;11)(p15;p15) is a distinct cytogenetic entity with poor outcome and a distinct mutation profile: comparative analysis of 493 adult patients. Leukemia. 2009;23(7):1303\u201310. https:\/\/doi.org\/10.1038\/leu.2009.25.","journal-title":"Leukemia"},{"issue":"1","key":"979_CR14","doi-asserted-by":"publisher","first-page":"64","DOI":"10.1111\/ijlh.12435","volume":"38","author":"S Burillo-Sanz","year":"2016","unstructured":"Burillo-Sanz S, Morales-Camacho RM, Caballero-Velazquez T, et al. NUP98-HOXA9 bearing therapy-related myeloid neoplasm involves myeloid-committed cell and induces HOXA5, EVI1, FLT3, and MEIS1 expression. Int J Lab Hematol. 2016;38(1):64\u201371. https:\/\/doi.org\/10.1111\/ijlh.12435.","journal-title":"Int J Lab Hematol"},{"issue":"13","key":"979_CR15","doi-asserted-by":"publisher","first-page":"3645","DOI":"10.1182\/blood-2011-04-346643","volume":"118","author":"IH Hollink","year":"2011","unstructured":"Hollink IH, van den Heuvel-Eibrink MM, Arentsen-Peters ST, et al. NUP98\/NSD1 characterizes a novel poor prognostic group in acute myeloid leukemia with a distinct HOX gene expression pattern. Blood. 2011;118(13):3645\u201356. https:\/\/doi.org\/10.1182\/blood-2011-04-346643.","journal-title":"Blood"},{"issue":"9","key":"979_CR16","doi-asserted-by":"publisher","first-page":"1010","DOI":"10.1016\/j.leukres.2013.05.020","volume":"37","author":"S Wei","year":"2013","unstructured":"Wei S, Wang S, Qiu S, et al. Clinical and laboratory studies of 17 patients with acute myeloid leukemia harboring t(7;11)(p15;p15) translocation. Leuk Res. 2013;37(9):1010\u20135. https:\/\/doi.org\/10.1016\/j.leukres.2013.05.020.","journal-title":"Leuk Res"},{"issue":"3","key":"979_CR17","doi-asserted-by":"publisher","first-page":"565","DOI":"10.1038\/leu.2016.267","volume":"31","author":"S Struski","year":"2017","unstructured":"Struski S, Lagarde S, Bories P, et al. NUP98 is rearranged in 3.8% of pediatric AML forming a clinical and molecular homogenous group with a poor prognosis. Leukemia. 2017;31(3):565\u201372. https:\/\/doi.org\/10.1038\/leu.2016.267.","journal-title":"Leukemia"},{"issue":"2","key":"979_CR18","doi-asserted-by":"publisher","first-page":"284","DOI":"10.1111\/bjh.15799","volume":"185","author":"T Miyamura","year":"2019","unstructured":"Miyamura T, Moritake H, Nakayama H, et al. Clinical and biological features of paediatric acute myeloid leukaemia (AML) with primary induction failure in the Japanese Paediatric Leukaemia\/Lymphoma Study Group AML-05 study. Br J Haematol. 2019;185(2):284\u20138. https:\/\/doi.org\/10.1111\/bjh.15799.","journal-title":"Br J Haematol"},{"issue":"5","key":"979_CR19","doi-asserted-by":"publisher","first-page":"3066","DOI":"10.3892\/ol.2017.5823","volume":"13","author":"J Yang","year":"2017","unstructured":"Yang J, Lyu X, Zhu X, et al. Chromosome t(7;11)(p15;p15) translocation in acute myeloid leukemia coexisting with multilineage dyspoiesis and mutations in NRAS and WT1: a case report and literature review. Oncol Lett. 2017;13(5):3066\u201370. https:\/\/doi.org\/10.3892\/ol.2017.5823.","journal-title":"Oncol Lett"},{"issue":"26","key":"979_CR20","doi-asserted-by":"publisher","first-page":"3424","DOI":"10.1182\/blood-2016-01-695551","volume":"127","author":"JD de Rooij","year":"2016","unstructured":"de Rooij JD, Masetti R, van den Heuvel-Eibrink MM, et al. Recurrent abnormalities can be used for risk group stratification in pediatric AMKL: a retrospective intergroup study. Blood. 2016;127(26):3424\u201330. https:\/\/doi.org\/10.1182\/blood-2016-01-695551.","journal-title":"Blood"},{"issue":"1","key":"979_CR21","doi-asserted-by":"publisher","first-page":"e31","DOI":"10.1097\/HS9.0000000000000031","volume":"2","author":"A Marceau-Renaut","year":"2018","unstructured":"Marceau-Renaut A, Duployez N, Ducourneau B, et al. Molecular profiling defines distinct prognostic subgroups in childhood AML: a report from the French ELAM02 study group. HemaSphere. 2018;2(1):e31. https:\/\/doi.org\/10.1097\/HS9.0000000000000031.","journal-title":"HemaSphere"},{"issue":"5","key":"979_CR22","doi-asserted-by":"publisher","first-page":"586","DOI":"10.1007\/s12185-017-2395-x","volume":"107","author":"A Shimada","year":"2018","unstructured":"Shimada A, Iijima-Yamashita Y, Tawa A, et al. Risk-stratified therapy for children with FLT3-ITD-positive acute myeloid leukemia: results from the JPLSG AML-05 study. Int J Hematol. 2018;107(5):586\u201395. https:\/\/doi.org\/10.1007\/s12185-017-2395-x.","journal-title":"Int J Hematol"},{"issue":"9","key":"979_CR23","doi-asserted-by":"publisher","first-page":"1465","DOI":"10.3324\/haematol.2013.100917","volume":"99","author":"A Thanasopoulou","year":"2014","unstructured":"Thanasopoulou A, Tzankov A, Schwaller J. Potent co-operation between the NUP98-NSD1 fusion and the FLT3-ITD mutation in acute myeloid leukemia induction. Haematologica. 2014;99(9):1465\u201371. https:\/\/doi.org\/10.3324\/haematol.2013.100917.","journal-title":"Haematologica"},{"issue":"46","key":"979_CR24","doi-asserted-by":"publisher","first-page":"6056","DOI":"10.1038\/onc.2008.210","volume":"27","author":"K Hirose","year":"2008","unstructured":"Hirose K, Abramovich C, Argiropoulos B, et al. Leukemogenic properties of NUP98-PMX1 are linked to NUP98 and homeodomain sequence functions but not to binding properties of PMX1 to serum response factor. Oncogene. 2008;27(46):6056\u201367. https:\/\/doi.org\/10.1038\/onc.2008.210.","journal-title":"Oncogene"},{"issue":"5","key":"979_CR25","first-page":"262","volume":"25","author":"Y Wang","year":"2004","unstructured":"Wang Y, Gu MM, Tan Y, et al. Development of human myeloid leukemia-like phenotype in NUP98-PMX1 transgenic mice. Zhonghua Xue Ye Xue Za Zhi. 2004;25(5):262\u20135.","journal-title":"Zhonghua Xue Ye Xue Za Zhi"}],"container-title":["BMC Medical Genomics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12920-021-00979-y.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s12920-021-00979-y\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12920-021-00979-y.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,5,17]],"date-time":"2021-05-17T21:03:58Z","timestamp":1621285438000},"score":1,"resource":{"primary":{"URL":"https:\/\/bmcmedgenomics.biomedcentral.com\/articles\/10.1186\/s12920-021-00979-y"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,5,17]]},"references-count":25,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2021,12]]}},"alternative-id":["979"],"URL":"https:\/\/doi.org\/10.1186\/s12920-021-00979-y","relation":{},"ISSN":["1755-8794"],"issn-type":[{"value":"1755-8794","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,5,17]]},"assertion":[{"value":"24 December 2020","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"9 May 2021","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"17 May 2021","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The study was approved by the Ethics Committee of Changhai Hospital and was conducted in accordance with the guidelines of the Declaration of Helsinki.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Written informed consent was obtained from the patient for publication of this case report.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that they have no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"130"}}