Zanubrutinib for high-risk Waldenström macroglobulinemia with complex karyotype and hyperleukocytosis: A case report and literature review

泽布替尼治疗伴有复杂核型和高白细胞增多症的高危华氏巨球蛋白血症:病例报告及文献综述

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Abstract

To report the management and outcome of an elderly, high-risk lymphoplasmacytic lymphoma/Waldenström macroglobulinemia patient presenting with severe symptomatic anemia, marked hyperleukocytosis, a complex karyotype, dual MYD88/CXCR4 mutations, and significant comorbidities, highlighting the therapeutic challenges and the efficacy of targeted therapy after chemoimmunotherapy intolerance. This case report details a 78-year-old male diagnosed with high-risk lymphoplasmacytic lymphoma/Waldenström macroglobulinemia (MYD88 L265P(+), pathogenic CXCR4 (+), complex karyotype: 46,X,-Y,add(6)(q224),+18/47,XY,+18/47,X,Y,+4,+18/48,XY,+4,+18/48,XY,+3,+18/46,XY) and significant comorbidities including hypertension and suspected cardiac amyloidosis. Initial treatment with bendamustine-rituximab was administered but led to significant toxicity. Subsequently, therapy was switched to the second-generation Bruton's tyrosine kinase inhibitor, zanubrutinib. Clinical progress, hematologic response, and adverse events were monitored. Initial treatment with bendamustine-rituximab was discontinued due to severe toxicity, including a grade 3 infusion reaction and subsequent neutropenic fever. Following the switch to zanubrutinib, he achieved a sustained partial hematologic response and clinical improvement. Disease-related complications (hyperviscosity retinopathy) and treatment-related adverse events (neutropenia) occurred but were managed appropriately while continuing zanubrutinib. Zanubrutinib demonstrated efficacy and manageable toxicity in an elderly, high-risk lymphoplasmacytic lymphoma/Waldenström macroglobulinemia patient with a complex karyotype, dual MYD88/CXCR4 mutations, hyperleukocytosis, and significant comorbidities, following intolerance to standard chemoimmunotherapy. This case supports the use of targeted Bruton's tyrosine kinase inhibition in achieving favorable outcomes in complex lymphoplasmacytic lymphoma/Waldenström macroglobulinemia presentations and contributes to understanding the significance of complex karyotypes in the era of novel therapies.

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