{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T01:16:13Z","timestamp":1747185373969,"version":"3.40.5"},"reference-count":17,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2022,7,6]],"date-time":"2022-07-06T00:00:00Z","timestamp":1657065600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Int J Lab Hematology"],"published-print":{"date-parts":[[2022,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Introduction<\/jats:title><jats:p>The additional sex combs like 1 (<jats:italic>ASXL1<\/jats:italic>) gene is frequently mutated in a number of haematological neoplasms. The c.1934dupG, known to be the most common alteration in <jats:italic>ASXL1<\/jats:italic>, is associated with poor clinical outcome. A systematic determination of <jats:italic>ASXL1<\/jats:italic> mutational status in myeloid malignancies is therefore necessary for prognostic stratification.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Because direct sequencing is not sensitive and next\u2010generation sequencing (NGS) is time\u2010consuming, expensive and sometimes does not allow the detection of the c.1934dupG, we have developed a fragment analysis assay, complementary to NGS, that allows the detection of c.1934dupG mutation in addition to other nearby insertions\/deletions of <jats:italic>ASXL1<\/jats:italic> located close to it. We called this assay the \u201cPCR\u2010Fluo\u2010<jats:italic>ASXL1<\/jats:italic>\u2010FA.\u201d<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>First, we evaluated the efficiency of our approach compared to NGS and Sanger. We showed that \u201cPCR\u2010Fluo\u2010<jats:italic>ASXL1<\/jats:italic>\u2010FA\u201d could detect all insertional mutations of <jats:italic>ASXL1<\/jats:italic> located on its area, with a high sensitivity (1.5%). Then, we have illustrated the interest of this technique by three concrete cases.<\/jats:p><\/jats:sec><jats:sec><jats:title>Discussion<\/jats:title><jats:p>In summary, we have established a fragment analysis approach, which can detect most <jats:italic>ASXL1<\/jats:italic> mutations, in particular the c.1934dupG, in a sensitive, fast and inexpensive manner. We therefore recommend the synchronous use of this method with NGS, to ensure complete detection of all clinically relevant <jats:italic>ASXL1<\/jats:italic> mutations in patients suffering with myeloid neoplasms.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ijlh.13931","type":"journal-article","created":{"date-parts":[[2022,7,6]],"date-time":"2022-07-06T23:33:44Z","timestamp":1657150424000},"page":"928-933","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["<scp>PCR\u2010Fluo\u2010<i>ASXL1<\/i>\u2010FA<\/scp>: A fast, sensitive and inexpensive complementary method to detect <scp><i>ASXL1<\/i><\/scp> mutations in haematological malignancies"],"prefix":"10.1111","volume":"44","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8640-9776","authenticated-orcid":false,"given":"Chlo\u00e9","family":"Friedrich","sequence":"first","affiliation":[{"name":"Hematology Department H\u00f4pital Cochin, Assistance 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