MYD88 L265P is a marker highly characteristic of, but not restricted to, Waldenstrom's macroglobulinemia

被引：196

作者：

Jimenez, C. ^{[1
]}

Sebastian, E. ^{[1
]}

Chillon, M. C. ^{[1
,2
]}

Giraldo, P. ^{[3
]}

Hernandez, J. Mariano ^{[4
]}

Escalante, F. ^{[5
]}

Gonzalez-Lopez, T. J. ^{[6
]}

Aguilera, C. ^{[7
]}

de Coca, A. G. ^{[8
]}

Murillo, I. ^{[3
]}

Alcoceba, M. ^{[1
]}

Balanzategui, A. ^{[1
]}

Sarasquete, M. E. ^{[1
,2
]}

Corral, R. ^{[1
]}

Marin, L. A. ^{[1
]}

Paiva, B. ^{[1
,2
]}

Ocio, E. M. ^{[1
,2
]}

Gutierrez, N. C. ^{[1
,2
]}

Gonzalez, M. ^{[1
,2
]}

Miguel, J. F. San ^{[1
,2
]}

Garcia-Sanz, R. ^{[1
,2
]}

机构：

[1] Univ Hosp, Dept Hematol, Salamanca 37007, Spain

[2] CIC, Inst Biosanitario Salamanca IBSAL, Salamanca, Spain

[3] Hosp Miguel Servet, Dept Hematol, Zaragoza, Spain

[4] Gen Hosp, Dept Hematol, Segovia, Spain

[5] Hosp Virgen Blanca, Dept Hematol, Leon, Spain

[6] Hosp Gen Burgos, Dept Hematol, Burgos, Spain

[7] Hosp Comarcal Bierzo, Dept Hematol, Leon, Spain

[8] Hosp Clin, Dept Hematol, Valladolid, Spain

来源：

LEUKEMIA | 2013年 / 27卷 / 08期

关键词：

MYD88; mutations; Waldenstrom's macroglobulinemia; IgM monoclonal gammapathies; diagnosis; prognosis; immunophenotyping; MULTIPARAMETER FLOW-CYTOMETRY; MINIMAL RESIDUAL DISEASE; B-CELL; MULTIPLE-MYELOMA; INTERNATIONAL WORKSHOP; MONOCLONAL GAMMOPATHY; RECURRENT MUTATIONS; SOMATIC MUTATION; IMMUNOGLOBULIN; FEATURES;

D O I：

10.1038/leu.2013.62

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

We evaluated the MYD88 L265P mutation in Waldenstrom's macroglobulinemia (WM) and B-cell lymphoproliferative disorders by specific polymerase chain reaction (PCR) (sensitivity similar to 10(-3)). No mutation was seen in normal donors, while it was present in 101/117 (86%) WM patients, 27/31 (87%) IgM monoclonal gammapathies of uncertain significance (MGUS), 3/14 (21%) splenic marginal zone lymphomas and 9/48 (19%) non-germinal center (GC) diffuse large B-cell lymphomas (DLBCLs). The mutation was absent in all 28 GC-DLBCLs, 13 DLBCLs not subclassified, 35 hairy cell leukemias, 39 chronic lymphocytic leukemias (16 with M-component), 25 IgA or IgG-MGUS, 24 multiple myeloma (3 with an IgM isotype), 6 amyloidosis, 9 lymphoplasmacytic lymphomas and 1 IgM-related neuropathy. Among WM and IgM-MGUS, MYD88 L265P mutation was associated with some differences in clinical and biological characteristics, although usually minor; wild-type MYD88 cases had smaller M-component (1.77 vs 2.72 g/dl, P = 0.022), more lymphocytosis (24 vs 5%, P = 0.006), higher lactate dehydrogenase level (371 vs 265 UI/L, P = 0.002), atypical immunophenotype (CD23 - CD27 ++ FMC7++), less Immunoglobulin Heavy Chain Variable gene (IGHV) somatic hypermutation (57 vs 97%, P = 0.012) and less IGHV3-23 gene selection (9 vs 27%, P = 0.014). These small differences did not lead to different time to first therapy, response to treatment or progression-free or overall survival.

引用

页码：1722 / 1728

页数：7

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