Journal
BRITISH JOURNAL OF HAEMATOLOGY
Volume 184, Issue 2, Pages 242-245Publisher
WILEY
DOI: 10.1111/bjh.15560
Keywords
Waldenstrom macroglobulinaemia; TP53; CXCR4; MYD88; ibrutinib
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Little is known about TP53 mutations in Waldenstrom Macroglobulinaemia (WM). We evaluated 265 WM patients for TP53 mutations by next-generation sequencing, and validated the findings by Sanger sequencing. TP53 mutations were identified and validated in 6 (2 center dot 6%) patients that impacted the DNA-binding domain. All six were MYD88- and CXCR4-mutated. Ibrutinib showed activity in patients carrying all three mutations. With a median follow-up of 18 months, 2 (33%) with biallelic TP53 inactivation died of progressive disease. TP53 mutations are rare in WM, and associate with MYD88 and CXCR4 mutations. WM patients with TP53 mutations show response to ibrutinib.
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