{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,24]],"date-time":"2026-02-24T08:40:49Z","timestamp":1771922449937,"version":"3.50.1"},"reference-count":23,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,1,19]],"date-time":"2026-01-19T00:00:00Z","timestamp":1768780800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Oncol."],"abstract":"<jats:p>\n                    <jats:italic>MECOM<\/jats:italic>\n                    (the\n                    <jats:italic>MDS1<\/jats:italic>\n                    and\n                    <jats:italic>EVI1<\/jats:italic>\n                    complex locus) rearrangements have been identified as an independent high-risk factor in acute myeloid leukemia (AML). The diversity of\n                    <jats:italic>MECOM<\/jats:italic>\n                    rearrangement partner genes significantly influences disease mechanisms and prognosis. The majority of atypical\n                    <jats:italic>MECOM<\/jats:italic>\n                    rearrangements result in\n                    <jats:italic>EVI1<\/jats:italic>\n                    overexpression through translocation into super-enhancer-containing regions. This report describes a rare, recurrent\n                    <jats:italic>MBNL1<\/jats:italic>\n                    ::\n                    <jats:italic>MECOM<\/jats:italic>\n                    rearrangement identified in a myelodysplastic neoplasm (MDS) patient with a concurrent\n                    <jats:italic>SF3B1<\/jats:italic>\n                    mutation. Although conventional cytogenetics showed a normal karyotype, the rearrangement was confirmed by next-generation sequencing (NGS) and fluorescence\n                    <jats:italic>in situ<\/jats:italic>\n                    hybridization (FISH). Concurrently, the patient exhibited high\n                    <jats:italic>EVI1<\/jats:italic>\n                    expression, consistent with the common mechanism observed in atypical\n                    <jats:italic>MECOM<\/jats:italic>\n                    rearrangements. Given the well-documented association between\n                    <jats:italic>SF3B1<\/jats:italic>\n                    mutations and\n                    <jats:italic>MECOM<\/jats:italic>\n                    rearrangements, analysis of\n                    <jats:italic>MECOM<\/jats:italic>\n                    expression and RNA sequencing (RNA-seq) is crucial for\n                    <jats:italic>SF3B1<\/jats:italic>\n                    -mutated patients, even in the absence of elevated blast counts. Furthermore, this case underscores the need for further research into the synergistic biological role of spliceosome mutations and\n                    <jats:italic>MECOM<\/jats:italic>\n                    rearrangements in driving leukemia.\n                  <\/jats:p>","DOI":"10.3389\/fonc.2026.1742267","type":"journal-article","created":{"date-parts":[[2026,1,19]],"date-time":"2026-01-19T05:27:44Z","timestamp":1768800464000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["A rare cytogenetically cryptic MECOM rearrangement in a patient with myelodysplastic neoplasm and SF3B1 mutation identified by RNA sequencing: a case report"],"prefix":"10.3389","volume":"16","author":[{"given":"Ye","family":"Jin","sequence":"first","affiliation":[{"name":"Department of Hematology, Affiliated People\u2019s Hospital of Jiangsu University","place":["Zhenjiang, Jiangsu, China"]},{"name":"Institute of Hematology, Jiangsu University","place":["Zhenjiang, Jiangsu, China"]},{"name":"Zhenjiang Clinical Research Center of Hematology","place":["Zhenjiang, Jiangsu, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zi-Jun","family":"Xu","sequence":"additional","affiliation":[{"name":"Institute of Hematology, Jiangsu University","place":["Zhenjiang, Jiangsu, China"]},{"name":"Zhenjiang Clinical Research Center of Hematology","place":["Zhenjiang, Jiangsu, China"]},{"name":"Laboratory Center, Affiliated People\u2019s Hospital of Jiangsu University","place":["Zhenjiang, Jiangsu, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chao-Ran","family":"Lv","sequence":"additional","affiliation":[{"name":"Department of Hematology, Affiliated People\u2019s Hospital of Jiangsu University","place":["Zhenjiang, Jiangsu, China"]},{"name":"Institute of Hematology, Jiangsu University","place":["Zhenjiang, Jiangsu, China"]},{"name":"Zhenjiang Clinical Research Center of Hematology","place":["Zhenjiang, Jiangsu, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhen","family":"Qian","sequence":"additional","affiliation":[{"name":"Department of Hematology, Affiliated People\u2019s Hospital of Jiangsu University","place":["Zhenjiang, Jiangsu, China"]},{"name":"Institute of Hematology, Jiangsu University","place":["Zhenjiang, Jiangsu, China"]},{"name":"Zhenjiang Clinical Research Center of Hematology","place":["Zhenjiang, Jiangsu, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiang-Mei","family":"Wen","sequence":"additional","affiliation":[{"name":"Institute of Hematology, Jiangsu University","place":["Zhenjiang, Jiangsu, China"]},{"name":"Zhenjiang Clinical Research Center of Hematology","place":["Zhenjiang, Jiangsu, China"]},{"name":"Laboratory Center, Affiliated People\u2019s Hospital of Jiangsu University","place":["Zhenjiang, Jiangsu, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sheng","family":"Xiao","sequence":"additional","affiliation":[{"name":"Advanced Molecular Pathology Institute of Soochow University and SANO","place":["Suzhou, Jiangsu, China"]},{"name":"SANO Medical Laboratories, Suzhou SANO Precision Medicine Ltd., Suzhou","place":["Jiangsu, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jiang","family":"Lin","sequence":"additional","affiliation":[{"name":"Institute of Hematology, Jiangsu University","place":["Zhenjiang, Jiangsu, China"]},{"name":"Zhenjiang Clinical Research Center of Hematology","place":["Zhenjiang, Jiangsu, China"]},{"name":"Laboratory Center, Affiliated People\u2019s Hospital of Jiangsu University","place":["Zhenjiang, Jiangsu, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jun","family":"Qian","sequence":"additional","affiliation":[{"name":"Department of Hematology, Affiliated People\u2019s Hospital of Jiangsu 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