Rare cases of primary central nervous system anaplastic variant of diffuse large B-cell lymphoma

Diagnostic Pathology

Linni Fan¹  Yixiong Liu¹  Yingmei Wang¹  Qingguo Yan¹  Peifeng Li¹  Jing Ma¹  Mingyang Li¹  Zhe Wang¹  Shuangping Guo¹  Tianqi Xu²  Donghui Han³  Qingge Jia⁴ 

[1] 0000 0004 1761 4404, grid.233520.5, State Key Laboratory of Cancer Biology, Department of Pathology, Xijing Hospital and School of Basic Medicine, Fourth Military Medical University, 710032, Xi’an, China;0000 0004 1799 374X, grid.417295.c, Department of Hematology, Xijing Hospital, Fourth Military Medical University, 710032, Xi’an, China;0000 0004 1799 374X, grid.417295.c, Department of Urology, Xijing Hospital, Fourth Military Medical University, 710032, Xi’an, China;Second Retired Cadres Sanitarium of Xi’an, Shaanxi Province Military Region, 710032, Xi’an, China;

关键词: Primary central nervous system diffuse large B-cell lymphoma;    Anaplastic variant of diffuse large B-cell lymphoma;    MYC;    MYD88;    Poor prognosis;   

DOI  :  10.1186/s13000-019-0826-0

来源: publisher

【 摘 要 】

BackgroundPrimary central nervous system (CNS) diffuse large B-cell lymphoma (DLBCL) is a rare intracranial tumor, defined as DLBCL arising from the brain, spinal cord, leptomeninges and eye, with an overall annual incidence of 5 cases per million. The primary CNS anaplastic variant of DLBCL (A-DLBCL) is even less common; to our knowledge, there are only two other case reports in the literature. The aim of this report is to present rare cases of primary CNS A-DLBCL and study their clinicopathologic and genetic features.Case presentationWe report 3 patients, two men and one woman, aged 54, 55 and 67 years old, with primary CNS A-DLBCL. All 3 patients had a high International Extranodal Lymphoma Study Group (IELSG) score; although the patients were treated with methotrexate-based regimens and/or with radiation therapy, the overall survival was only 2, 5, and 8 months. All 3 patients presented with characteristic features of perivascular space infiltration with bizarre-shaped tumor cells, leading to the diagnosis of primary CNS A-DLBCL. Concurrent of MYC and BCL2 and/or BCL6 abnormalities and MYC/BCL2 double-expressor DLBCL occurred in all 3 patients; two patients had MYC/BCL2/BCL6 triple extra copies, and one patient had MYC extra copy and BCL6 translocation. All 3 patients displayed mutations in MYD88 L265P and nuclear positivity for RELA, RELB and/or c-Rel, indicating constitutive activation of the NF-κB pathway.ConclusionsThese cases shed light on the unique genetic alterations and biological features of primary CNS A-DLBCL. Patients with primary CNS A-DLBCL may often have a MYC/BCL2 double-expressor and concurrent MYC and BCL2 and/or BCL6 genetic abnormalities, as well as constitutive activation of the NF-κB pathway. Primary CNS A-DLBCL follows a very aggressive disease course and poor prognosis. In the future, a large number of cases should be analyzed, and the evaluation of molecular genetic characteristics could help with practical and therapeutic implications for primary CNS A-DLBCL.

【 授权许可】

CC BY