Waldenstrom macroglobulinemia and non-IgM-type lymphoplasmacytic lymphoma are genetically similar

被引：1

作者：

Awata-Shiraiwa, Maaya ^{[1
,2
]}

Yokohama, Akihiko ^{[3
]}

Kanai, Yukihiro ^{[1
]}

Gotoh, Nanami ^{[1
]}

Kasamatsu, Tetsuhiro ^{[1
]}

Handa, Hiroshi ^{[4
]}

Saitoh, Takayuki ^{[1
]}

Murakami, Hirokazu ^{[1
,2
]}

Hirato, Junko ^{[5
]}

Ikota, Hayato ^{[6
]}

Tsukamoto, Norifumi ^{[7
]}

机构：

[1] Gunma Univ, Dept Lab Sci, Grad Sch Hlth Sci, Maebashi, Gunma, Japan

[2] Gunma Univ Hlth & Welf, Maebashi, Gunma, Japan

[3] Gunma Univ Hosp, Blood Transfus Serv, Maebashi, Gunma, Japan

[4] Gunma Univ, Dept Hematol, Grad Sch Med, Maebashi, Gunma, Japan

[5] Publ Tomioka Gen Hosp, Clin Dept Pathol, Tomioka, Gunma, Japan

[6] Gunma Univ Hosp, Clin Dept Pathol, Maebashi, Gunma, Japan

[7] Gunma Univ Hosp, Oncol Ctr, Maebashi, Gunma, Japan

来源：

ACTA HAEMATOLOGICA | 2023年 / 146卷 / 05期

关键词：

MYD88; L265P; MONOCLONAL GAMMOPATHY; SOMATIC MUTATIONS; PERIPHERAL-BLOOD; BONE-MARROW; CXCR4; IMMUNOGLOBULIN;

D O I：

10.1159/000530100

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Introduction Waldenstrom macroglobulinemia (WM) represents a subset of lymphoplasmacytic lymphoma (LPL) with the immunoglobulin (Ig)M paraprotein. MYD88 L265P and CXCR4 mutations are common mutations in WM patients, and mutations in ARID1A and KMT2D (MLL2) have also been reported. However, little information has been accumulated on genetic changes in LPL with other paraproteins like IgG. Methods We therefore aimed to evaluate genetic differences between WM and LPL with non-IgM paraprotein (non-IgM-type LPL) using targeted next-generation sequencing (NGS) in 20 Japanese patients (10 with WM, 10 with non-IgM-type LPL). Results Mutations were detected in ARID1A (10%), CXCR4 (20%), MYD88 (90%), and KMT2D (0%) for WM patients, and in ARID1A (10%), CXCR4 (20%), MYD88 (70%), and KMT2D (10%) for non-IgM-type LPL patients. No significant differences were identified. No mutations were detected in NOTCH2, PRDM1, CD274 (PD-L1), PDCD1LG2 (PD-L2), RAG2, MYBBP1A, TP53, or CD79B. Discussion Mutant allele frequency in MYD88 L265P did not differ significantly between WM and non-IgM-type LPL. Most mutations detected by NGS were subclonal following MYD88 L265P, although one non-IgM-type LPL patient harbored only CXCR4 S338X mutation. Our NGS analyses reveal genetic characteristics in LPL patients and suggest genetic similarities between these two subsets of LPL, WM and non-IgM-type.

引用

页码：384 / 390

页数：7

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