"Quadruple-hit" primary testicular diffuse large B-cell lymphoma with MYD88 L265P mutation, IGH::MYC, and IRF4-and BCL6-rearrangements

被引：2

作者：

Bruehl, Frido K. ^{[1
]}

Ketterling, Rhett P. ^{[1
]}

Rimsza, Lisa M. ^{[2
]}

Santos, Edward F. ^{[3
]}

McPhail, Ellen D. ^{[1
]}

机构：

[1] Mayo Clin, Dept Lab Med & Pathol, 200 First St SW, Rochester, MN 55905 USA

[2] Mayo Clin, Dept Lab Med & Pathol, Scottsdale, AZ USA

[3] OSF St Anthony Med Ctr, Dept Pathol, Rockford, IL USA

来源：

JOURNAL OF HEMATOPATHOLOGY | 2023年 / 16卷 / 03期

关键词：

Primary testicular diffuse large B-cell lymphoma (PT-DLBCL); IRF4-rearrangement; MYD88; mutation; IGH; MYC; CLASSIFICATION; SUBTYPES;

D O I：

10.1007/s12308-023-00556-5

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Classification of DLBCL relies on clinical, immunohistochemical, and genetic information. We report a case of primary testicular diffuse large B-cell lymphoma (PT-DLBCL) with a hitherto unreported constellation of pathologic findings to illustrate the challenges of DLBCL classification. A standard hematopathology workup was followed by gene expression profiling (GEP) to determine the DLBCL cell of origin (COO). A 75-year-old man presented with a unilateral testicular mass that had developed over the course of 1 month. Pathologic examination demonstrated involvement by DLBCL. Clinical staging revealed no systemic disease. Genetic testing showed an MYD88 mutation, as well as IGH::MYC and IRF4- and BCL6-rearrangements. Gene expression profiling demonstrated an activated B-cell expression profile. This case highlights the genetic complexity of DLBCL arising in the testis and questions the clinical significance of the identified genetic abnormalities.

引用

页码：161 / 165

页数：5

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