{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,25]],"date-time":"2026-03-25T21:35:31Z","timestamp":1774474531666,"version":"3.50.1"},"reference-count":12,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2025,10,22]],"date-time":"2025-10-22T00:00:00Z","timestamp":1761091200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2025,10,22]],"date-time":"2025-10-22T00:00:00Z","timestamp":1761091200000},"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":["Biomark Res"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Splenomegaly is an event occurring in a variable range between 10\u201340% of de novo acute myeloid leukemia (AML), recently linked to poorer prognosis. Studies in murine models have shown that loss of the additional sex combs-like 1\n                      <jats:italic>(ASXL1)<\/jats:italic>\n                      gene function leads to a significantly enlarged spleen volume, due to an increased infiltration of myeloid cells into the spleen.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      In 58 de novo AML patients presenting with splenomegaly at diagnosis, we evaluated the occurrence of\n                      <jats:italic>ASXL1<\/jats:italic>\n                      somatic mutations, deepened the molecular profile and conducted high-throughput RNA sequencing, with the aim of unveiling possible peculiar aspects of this rare clinical scenario.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      <jats:italic>ASXL1<\/jats:italic>\n                      mutations (\n                      <jats:italic>ASXL1<\/jats:italic>\n                      mut) were detected in 23\/58 (40%) patients, being the most frequently mutated gene, followed by\n                      <jats:italic>TET2<\/jats:italic>\n                      and\n                      <jats:italic>NRAS<\/jats:italic>\n                      .\n                      <jats:italic>ASXL1<\/jats:italic>\n                      mut cases were significantly older than\n                      <jats:italic>ASXL1<\/jats:italic>\n                      wt (71 vs 64\u00a0years old, p\u2009=\u20090.003), showed a significantly higher white blood cells count (31,970\/uL vs 17,810\/uL, p\u2009=\u20090.044) and a higher platelet count (177,700\/uL vs 67,700\/uL, p\u2009=\u20090.0006). In contrast, the median bone marrow blasts percentage was lower in the\n                      <jats:italic>ASXL1<\/jats:italic>\n                      mut subset compared to\n                      <jats:italic>ASXL1<\/jats:italic>\n                      wt (36.4% vs 72,1%, p\u2009=\u20090.002). Comparing the gene expression profile of the\n                      <jats:italic>ASXL1<\/jats:italic>\n                      mut and\n                      <jats:italic>ASXL1<\/jats:italic>\n                      wt groups, we found the upregulation of\n                      <jats:italic>PCDHB2<\/jats:italic>\n                      and\n                      <jats:italic>LURAP1L\/LURAP1L-AS1<\/jats:italic>\n                      (all involved in mechanisms of cellular interaction and migration) genes in the former group, unveiling a role in the splenic infiltration of\n                      <jats:italic>ASXL1<\/jats:italic>\n                      mut leukemic cells.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Overall, our data paves the way for further studies of an AML subgroup with a distinctive phenotype, whose prompt identification could improve patient management and therapeutic decision making.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1186\/s40364-025-00833-8","type":"journal-article","created":{"date-parts":[[2025,10,22]],"date-time":"2025-10-22T08:26:45Z","timestamp":1761121605000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Splenomegaly in de novo acute myeloid leukemia is associated with ASXL1 mutations together with a distinct clinical and gene expression 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