{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T03:39:50Z","timestamp":1791257990157,"version":"4.1.0"},"reference-count":25,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2015,3,29]],"date-time":"2015-03-29T00:00:00Z","timestamp":1427587200000},"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":["Br J Haematol"],"published-print":{"date-parts":[[2015,6]]},"abstract":"Summary<\/jats:title>Recurrent mutations in MYD<\/jats:styled-content>88<\/jats:italic> have been identified in >90% of lymphoplasmacytic lymphoma (LPL<\/jats:styled-content>). Recently, WHIM<\/jats:styled-content> (warts, hypogammaglobulinaemia, infections, myelokathexis) syndrome\u2010like mutations in CXCR<\/jats:styled-content>4<\/jats:italic> have been described in 28% of LPL<\/jats:styled-content> cases, and seem to impact clinical presentation and response to therapy. We investigated the presence of the MYD<\/jats:styled-content>88<\/jats:italic> L265P mutation in 90 decalcified, formalin\u2010fixed, paraffin\u2010embedded (FFPE<\/jats:styled-content>) bone marrow (BM<\/jats:styled-content>) biopsies, including 51 cases of LPL<\/jats:styled-content>, 14 cases of B\u2010cell chronic lymphocytic leukaemia (CLL<\/jats:styled-content>), 13 cases of marginal zone lymphoma (MZL<\/jats:styled-content>) and 12 normal controls. In addition, the C\u2010terminal domain of CXCR<\/jats:styled-content>4<\/jats:italic> was sequenced in LPL<\/jats:styled-content> cases. MYD<\/jats:styled-content>88<\/jats:italic> L265P was found in 49\/51 (96%) LPL<\/jats:styled-content> cases and in 1\/13 (7\u00b76%) MZL<\/jats:styled-content> (splenic type), whereas all CLL<\/jats:styled-content> samples remained negative. The two MYD<\/jats:styled-content>88<\/jats:italic> wild type LPL<\/jats:styled-content> cases were associated with cold agglutinin disease. Mutations in CXCR<\/jats:styled-content>4<\/jats:italic> were detected in 17\/47 (36\u00b72%) LPL<\/jats:styled-content> cases, which showed a higher extent of BM<\/jats:styled-content> infiltration and lower leucocyte counts (P<\/jats:italic>\u00a0=\u00a00\u00b702), haemoglobin (P<\/jats:italic>\u00a0=\u00a00\u00b705) and platelet counts (P<\/jats:italic>\u00a0=\u00a00\u00b701). In conclusion the detection of MYD<\/jats:styled-content>88<\/jats:italic> L265P mutation in FFPE<\/jats:styled-content> samples is reliable and useful for subtyping small B\u2010cell lymphomas in BM<\/jats:styled-content> biopsies. In addition, the presence of CXCR<\/jats:styled-content>4<\/jats:italic> mutations identifies a subgroup of LPL<\/jats:styled-content> patients with higher disease activity.<\/jats:p>","DOI":"10.1111\/bjh.13361","type":"journal-article","created":{"date-parts":[[2015,3,30]],"date-time":"2015-03-30T03:31:13Z","timestamp":1427686273000},"page":"795-803","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":92,"title":["MYD<\/scp>88<\/i> L265P and CXCR<\/scp>4<\/i> mutations in lymphoplasmacytic lymphoma identify cases with high disease activity"],"prefix":"10.1111","volume":"169","author":[{"given":"Janine","family":"Schmidt","sequence":"first","affiliation":[{"name":"Institute of Pathology and Comprehensive Cancer Centre Eberhard\u2010Karls\u2010University University Hospital T\u00fcbingen T\u00fcbingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Birgit","family":"Federmann","sequence":"additional","affiliation":[{"name":"Institute of Pathology and Comprehensive Cancer Centre Eberhard\u2010Karls\u2010University University Hospital T\u00fcbingen T\u00fcbingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natalie","family":"Schindler","sequence":"additional","affiliation":[{"name":"Institute of Pathology and Comprehensive Cancer Centre Eberhard\u2010Karls\u2010University University Hospital T\u00fcbingen T\u00fcbingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julia","family":"Steinhilber","sequence":"additional","affiliation":[{"name":"Institute of Pathology and Comprehensive Cancer Centre Eberhard\u2010Karls\u2010University University Hospital T\u00fcbingen T\u00fcbingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irina","family":"Bonzheim","sequence":"additional","affiliation":[{"name":"Institute of Pathology and Comprehensive Cancer Centre Eberhard\u2010Karls\u2010University University Hospital T\u00fcbingen T\u00fcbingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Falko","family":"Fend","sequence":"additional","affiliation":[{"name":"Institute of Pathology and Comprehensive Cancer Centre Eberhard\u2010Karls\u2010University University Hospital T\u00fcbingen T\u00fcbingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leticia","family":"Quintanilla\u2010Martinez","sequence":"additional","affiliation":[{"name":"Institute of Pathology and Comprehensive Cancer Centre Eberhard\u2010Karls\u2010University University Hospital T\u00fcbingen T\u00fcbingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2015,3,29]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.humpath.2013.02.004"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/nri1391"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/leu.2014.187"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/leu.2012.257"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1149"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2013-09-525808"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0609.2011.01720.x"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/ni.1863"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2007-09-115170"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.3109\/10428194.2013.831091"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2013-12-543306"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2007-12-129395"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature09671"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1053\/sonc.2003.50082"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2012-06-436329"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.2013.091702"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9440(10)63870-9"},{"key":"e_1_2_8_19_1","volume-title":"World Health Organization Classification of Tumours. 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