{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T16:35:56Z","timestamp":1791909356477,"version":"4.3.4"},"reference-count":14,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2018,9,5]],"date-time":"2018-09-05T00:00:00Z","timestamp":1536105600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100005189","name":"Leukemia and Lymphoma Society","doi-asserted-by":"publisher","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":[[2019,1]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Little is known about <jats:italic><jats:styled-content style=\"fixed-case\">TP<\/jats:styled-content>53<\/jats:italic> mutations in Waldenstr\u00f6m Macroglobulinaemia (<jats:styled-content style=\"fixed-case\">WM<\/jats:styled-content>). We evaluated 265 <jats:styled-content style=\"fixed-case\">WM<\/jats:styled-content> patients for <jats:italic><jats:styled-content style=\"fixed-case\">TP<\/jats:styled-content>53<\/jats:italic> mutations by next\u2010generation sequencing, and validated the findings by Sanger sequencing. <jats:italic><jats:styled-content style=\"fixed-case\">TP<\/jats:styled-content>53<\/jats:italic> mutations were identified and validated in 6 (2\u00b76%) patients that impacted the <jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content>\u2010binding domain. All six were <jats:italic><jats:styled-content style=\"fixed-case\">MYD<\/jats:styled-content>88\u2010<\/jats:italic> and <jats:italic><jats:styled-content style=\"fixed-case\">CXCR<\/jats:styled-content>4<\/jats:italic>\u2010mutated. Ibrutinib showed activity in patients carrying all three mutations. With a median follow\u2010up of 18\u00a0months, 2 (33%) with biallelic <jats:italic><jats:styled-content style=\"fixed-case\">TP<\/jats:styled-content>53<\/jats:italic> inactivation died of progressive disease. <jats:italic><jats:styled-content style=\"fixed-case\">TP<\/jats:styled-content>53<\/jats:italic> mutations are rare in <jats:styled-content style=\"fixed-case\">WM<\/jats:styled-content>, and associate with <jats:italic><jats:styled-content style=\"fixed-case\">MYD<\/jats:styled-content>88<\/jats:italic> and <jats:italic><jats:styled-content style=\"fixed-case\">CXCR<\/jats:styled-content>4<\/jats:italic> mutations. <jats:styled-content style=\"fixed-case\">WM<\/jats:styled-content> patients with <jats:italic><jats:styled-content style=\"fixed-case\">TP<\/jats:styled-content>53<\/jats:italic> mutations show response to ibrutinib.<\/jats:p>","DOI":"10.1111\/bjh.15560","type":"journal-article","created":{"date-parts":[[2018,9,5]],"date-time":"2018-09-05T10:38:25Z","timestamp":1536143905000},"page":"242-245","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":51,"title":["<i><scp>TP<\/scp>53<\/i> mutations are associated with mutated <i><scp>MYD<\/scp>88<\/i> and <i><scp>CXCR<\/scp>4<\/i>, and confer an adverse outcome in Waldenstr\u00f6m macroglobulinaemia"],"prefix":"10.1111","volume":"184","author":[{"given":"Joshua N.","family":"Gustine","sequence":"first","affiliation":[{"name":"Bing Center for Waldenstr\u00f6m's Macroglobulinemia Dana\u2010Farber Cancer Institute Boston MA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicholas","family":"Tsakmaklis","sequence":"additional","affiliation":[{"name":"Bing Center for Waldenstr\u00f6m's Macroglobulinemia Dana\u2010Farber Cancer Institute Boston MA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria G.","family":"Demos","sequence":"additional","affiliation":[{"name":"Bing Center for Waldenstr\u00f6m's Macroglobulinemia Dana\u2010Farber Cancer Institute Boston MA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amanda","family":"Kofides","sequence":"additional","affiliation":[{"name":"Bing Center for Waldenstr\u00f6m's Macroglobulinemia Dana\u2010Farber Cancer Institute Boston MA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jiaji G.","family":"Chen","sequence":"additional","affiliation":[{"name":"Bing Center for Waldenstr\u00f6m's Macroglobulinemia Dana\u2010Farber Cancer Institute Boston MA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xia","family":"Liu","sequence":"additional","affiliation":[{"name":"Bing Center for Waldenstr\u00f6m's Macroglobulinemia Dana\u2010Farber Cancer Institute Boston MA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manit","family":"Munshi","sequence":"additional","affiliation":[{"name":"Bing Center for Waldenstr\u00f6m's Macroglobulinemia Dana\u2010Farber Cancer Institute Boston MA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria L.","family":"Guerrera","sequence":"additional","affiliation":[{"name":"Bing Center for Waldenstr\u00f6m's Macroglobulinemia Dana\u2010Farber Cancer Institute Boston MA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gloria G.","family":"Chan","sequence":"additional","affiliation":[{"name":"Bing Center for Waldenstr\u00f6m's 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's Macroglobulinemia 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's Macroglobulinemia Dana\u2010Farber Cancer Institute Boston MA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Toni","family":"Dubeau","sequence":"additional","affiliation":[{"name":"Bing Center for Waldenstr\u00f6m's Macroglobulinemia Dana\u2010Farber Cancer Institute Boston MA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guang","family":"Yang","sequence":"additional","affiliation":[{"name":"Bing Center for Waldenstr\u00f6m's Macroglobulinemia Dana\u2010Farber Cancer Institute Boston MA USA"},{"name":"Department of Medicine Harvard Medical School Boston MA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zachary R.","family":"Hunter","sequence":"additional","affiliation":[{"name":"Bing Center for Waldenstr\u00f6m's Macroglobulinemia Dana\u2010Farber Cancer Institute Boston MA USA"},{"name":"Department of Medicine Harvard Medical School Boston MA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6393-6154","authenticated-orcid":false,"given":"Steven P.","family":"Treon","sequence":"additional","affiliation":[{"name":"Bing Center for Waldenstr\u00f6m's Macroglobulinemia Dana\u2010Farber Cancer Institute Boston MA USA"},{"name":"Department of Medicine Harvard Medical School Boston MA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jorge J.","family":"Castillo","sequence":"additional","affiliation":[{"name":"Bing Center for Waldenstr\u00f6m's Macroglobulinemia Dana\u2010Farber Cancer Institute Boston MA USA"},{"name":"Department of Medicine Harvard Medical School Boston MA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lian","family":"Xu","sequence":"additional","affiliation":[{"name":"Bing Center for Waldenstr\u00f6m's 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