{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,15]],"date-time":"2026-06-15T21:51:16Z","timestamp":1781560276408,"version":"3.54.5"},"reference-count":17,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2021,3,13]],"date-time":"2021-03-13T00:00:00Z","timestamp":1615593600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100001695","name":"International Waldenstrom's Macroglobulinemia Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100001695","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000054","name":"National Cancer Institute","doi-asserted-by":"publisher","award":["2P50CA100707\u201016A1"],"award-info":[{"award-number":["2P50CA100707\u201016A1"]}],"id":[{"id":"10.13039\/100000054","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100005189","name":"Leukemia and Lymphoma Society","doi-asserted-by":"publisher","award":["R6507\u201018"],"award-info":[{"award-number":["R6507\u201018"]}],"id":[{"id":"10.13039\/100005189","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Br J Haematol"],"published-print":{"date-parts":[[2021,8]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p><jats:italic>CXCR4<\/jats:italic> mutations impact disease presentation and treatment outcomes in Waldenstr\u00f6m macroglobulinaemia (WM). Non\u2010uniform testing for <jats:italic>CXCR4<\/jats:italic> mutations may account for discordant findings in WM clinical trials. We compared two approaches used in these trials for detection of the most common <jats:italic>CXCR4<\/jats:italic> (S338X) variant: targeted next\u2010generation sequencing (NGS) using unselected bone marrow (BM) samples, and combined allele\u2010specific polymerase chain reaction (AS\u2010PCR) and Sanger sequencing with unselected and CD19\u2010selected BM samples. Our findings showed that targeted NGS frequently yielded false\u2010negative results. Both CD19 selection and AS\u2010PCR markedly improved detection of <jats:italic>CXCR4<\/jats:italic><jats:sup>S338X<\/jats:sup> mutations. Sensitivity was adversely impacted by low BM involvement and <jats:italic>CXCR4<\/jats:italic> mutation clonality.<\/jats:p>","DOI":"10.1111\/bjh.17385","type":"journal-article","created":{"date-parts":[[2021,3,13]],"date-time":"2021-03-13T18:30:15Z","timestamp":1615660215000},"page":"730-733","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":24,"title":["Bone marrow involvement and subclonal diversity impairs detection of mutated <i>CXCR4<\/i> by diagnostic next\u2010generation sequencing in Waldenstr\u00f6m macroglobulinaemia"],"prefix":"10.1111","volume":"194","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6717-7669","authenticated-orcid":false,"given":"Joshua N.","family":"Gustine","sequence":"first","affiliation":[{"name":"Bing Center for Waldenstr\u00f6m\u2019s Macroglobulinemia Dana\u2010Farber Cancer Institute Boston MA USA"},{"name":"Boston University School of Medicine Boston MA 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Dana\u2010Farber Cancer Institute Boston MA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kirsten","family":"Meid","sequence":"additional","affiliation":[{"name":"Bing Center for Waldenstr\u00f6m\u2019s Macroglobulinemia Dana\u2010Farber Cancer Institute Boston MA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christopher J.","family":"Patterson","sequence":"additional","affiliation":[{"name":"Bing Center for Waldenstr\u00f6m\u2019s Macroglobulinemia Dana\u2010Farber Cancer Institute Boston MA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shayna","family":"Sarosiek","sequence":"additional","affiliation":[{"name":"Bing Center for Waldenstr\u00f6m\u2019s Macroglobulinemia Dana\u2010Farber Cancer Institute Boston MA USA"},{"name":"Department of Medicine Harvard Medical School Boston MA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew 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