Bone marrow involvement and subclonal diversity impairs detection of mutated CXCR4 by diagnostic next-generation sequencing in Waldenstrom macroglobulinaemia

被引：21

作者：

Gustine, Joshua N. ^{[1
,2
]}

Xu, Lian ^{[1
]}

Yang, Guang ^{[1
,3
]}

Liu, Xia ^{[1
]}

Kofides, Amanda ^{[1
]}

Tsakmaklis, Nicholas ^{[1
]}

Munshi, Manit ^{[1
]}

Demos, Maria ^{[1
]}

Guerrera, Maria L. ^{[1
]}

Meid, Kirsten ^{[1
]}

Patterson, Christopher J. ^{[1
]}

Sarosiek, Shayna ^{[1
,3
]}

Branagan, Andrew R. ^{[3
,4
]}

Hunter, Zachary R. ^{[1
]}

Castillo, Jorge J. ^{[1
,3
]}

Treon, Steven P. ^{[1
,3
]}

机构：

[1] Dana Farber Canc Inst, Bing Ctr Waldenstroms Macroglobulinemia, M548,450 Brookline Ave, Boston, MA 02115 USA

[2] Boston Univ, Sch Med, Boston, MA 02118 USA

[3] Harvard Med Sch, Dept Med, Boston, MA 02115 USA

[4] Massachusetts Gen Hosp, Div Med Oncol, Boston, MA 02114 USA

来源：

BRITISH JOURNAL OF HAEMATOLOGY | 2021年 / 194卷 / 04期

关键词：

Waldenstrom macroglobulinemia; CXCR4; ibrutinib; zanubrutinib; next generation sequencing;

D O I：

10.1111/bjh.17385

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

CXCR4 mutations impact disease presentation and treatment outcomes in Waldenstrom macroglobulinaemia (WM). Non-uniform testing for CXCR4 mutations may account for discordant findings in WM clinical trials. We compared two approaches used in these trials for detection of the most common CXCR4 (S338X) variant: targeted next-generation sequencing (NGS) using unselected bone marrow (BM) samples, and combined allele-specific polymerase chain reaction (AS-PCR) and Sanger sequencing with unselected and CD19-selected BM samples. Our findings showed that targeted NGS frequently yielded false-negative results. Both CD19 selection and AS-PCR markedly improved detection of CXCR4(S338X) mutations. Sensitivity was adversely impacted by low BM involvement and CXCR4 mutation clonality.

引用

页码：730 / 733

页数：4

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