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The World Health Organization (WHO) guidelines highlight the\n                    <jats:italic>JAK2<\/jats:italic>\n                    V617F mutation as one of the key diagnostic criterions for Ph\n                    <jats:sup>\u2212<\/jats:sup>\n                    MPNs. In this study, we analyzed 283 MPN samples with the\n                    <jats:italic>JAK2<\/jats:italic>\n                    V617F mutation to assess the effectiveness of three detection technologies: chip-based digital PCR (cdPCR), real-time quantitative PCR (qPCR), and next-generation sequencing (NGS). Additionally, we investigated the relationship between\n                    <jats:italic>JAK2<\/jats:italic>\n                    V617F mutant allele burden (%\n                    <jats:italic>JAK2<\/jats:italic>\n                    V617F) and various laboratory characteristics to elucidate potential implications in MPN diagnosis. Our findings demonstrated high conformance of cdPCR with qPCR\/NGS for detecting %\n                    <jats:italic>JAK2<\/jats:italic>\n                    V617F, but the mutant allele burdens detected by qPCR\/NGS were lower than those detected by cdPCR. Moreover, the cdPCR exhibited high sensitivity with a limit of detection (LoD) of 0.08% and a limit of quantification (LoQ) of 0.2% for detecting %\n                    <jats:italic>JAK2<\/jats:italic>\n                    V617F in MPNs. Clinical implications were explored by correlating %\n                    <jats:italic>JAK2<\/jats:italic>\n                    V617F with various laboratory characteristics in MPN patients, revealing significant associations with white blood cell counts, lactate dehydrogenase levels, and particularly \u03b22-microglobulin (\u03b22-MG) levels. Finally, a case report illustrated the application of cdPCR in detecting low-allele burdens in a de\n                    <jats:italic>novo<\/jats:italic>\n                    chronic myeloid leukemia (CML) patient with a hidden\n                    <jats:italic>JAK2<\/jats:italic>\n                    V617F subclone, which expanded during tyrosine kinase inhibitor (TKI) treatment. Our findings underscore the superior sensitivity and accuracy of cdPCR, making it a valuable tool for early diagnosis and monitoring clonal evolution.\n                  <\/jats:p>","DOI":"10.1007\/s00277-024-05896-5","type":"journal-article","created":{"date-parts":[[2024,7,23]],"date-time":"2024-07-23T22:01:50Z","timestamp":1721772110000},"page":"3553-3562","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Superior detection of low-allele burden Janus kinase 2 V617F mutation and monitoring clonal evolution in myeloproliferative neoplasms using chip-based digital PCR"],"prefix":"10.1007","volume":"103","author":[{"ORCID":"https:\/\/orcid.org\/0009-0004-0749-1006","authenticated-orcid":false,"given":"Yiyi","family":"Lu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lin","family":"Lin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jiafei","family":"Lin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beiying","family":"Wu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gang","family":"Cai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xuefeng","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0390-3067","authenticated-orcid":false,"given":"Xuefei","family":"Ma","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,7,24]]},"reference":[{"issue":"20","key":"5896_CR1","doi-asserted-by":"publisher","first-page":"2391","DOI":"10.1182\/blood-2016-03-643544","volume":"127","author":"DA Arber","year":"2016","unstructured":"Arber DA, Orazi A, Hasserjian R, Thiele J, Borowitz MJ, Le Beau MM, Bloomfield CD, Cazzola M, Vardiman JW (2016) The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia. 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