Letter to the Editor
Ann Lab Med 2021; 41(6): 593-597
Published online November 1, 2021 https://doi.org/10.3343/alm.2021.41.6.593
Copyright © Korean Society for Laboratory Medicine.
A Case of Burkitt-Like Lymphoma With 11q Aberration With HIV Infection in East Asia and Literature Review
1Department of Laboratory Medicine and Genetics and 2Division of Hematology-Oncology, Department of Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea
Correspondence to: Sun-Hee Kim, M.D.
Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, 81 Irwon-ro, Gangnam-gu, Seoul 06351, Korea
Tel: +82-2-3410-2704, Fax: +82-2-3410-2719
This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
Burkitt-like lymphoma with 11q aberration (BLL-11q) is a new provisional classification in the revised fourth edition of WHO classification of lymphomas that resembles Burkitt lymphoma (BL) morphologically and phenotypically, but has unique features, including gains in 11q23.2–23.3 and losses of 11q24.1–qter, with no
A 23-year-old male who was previously healthy was admitted to Samsung Medical Center in January 2020 for investigation of a palpable mass on the left axilla and back pain. Axillary lymph-node biopsy was positive for CD10, BCL6, and Ki-67 (>90%), and negative for BCL2, CD3, and MUM-1 (IRF-4). FISH was negative for
Figure 1. Bone marrow findings in Burkitt-like lymphoma with 11q aberration. (A) Bone marrow aspirate smear revealed medium- to large-sized lymphoma cells with finely clumped chromatin, variably prominent nucleoli, moderate amounts of deeply basophilic cytoplasm, with or without lipid vacuoles (Wright-Giemsa stain, ×400 and ×1,000). (B) Bone marrow biopsy section revealed diffuse infiltration of lymphoma cells composed of medium- to large-sized cells (H & E stain, ×200). On immunohistochemical staining, (C) lymphoma cells were diffusely positive for CD20, and (D) reactive T cells were positive for CD3 (×200). (E) Chromosome analysis showed an abnormal chromosome 11, including inverted duplication of the part of the long arm between 11q24 and 11q13 and terminal deletion of the long arm from 11q24 to 11ter (arrow). On interphase fluorescence
in-situhybridization, (F) KMT2A( MLL) Dual-Color Break Apart probe (Vysis) showed three green/orange (yellow) fusion signals indicating a gain of 11q23.3, and (G) Telomere 11q SpectrumOrange probe (Vysis) showed a single orange signal, indicating a loss of 11q24. (H) Chromosomal microarray analysis showed a copy-number gain of 11q12.2 q23.3 (blue) followed by an adjacent distal loss of 11q23.3 q25 (red).
(11)dup(11)(q24q13)del(q24)/46,XY (Fig. 1E). FISH analysis using
Chromosomal microarray analysis was conducted using Gene-Chip System 3000Dx v.2 (Thermo Fisher Scientific, Carlsbad, CA, USA) and a CytoScan Dx Assay (Thermo Fisher Scientific). The results showed a 58.5 Mb copy number gain on 11q12.2q23.3 (chr11:60,902,421–119,465,669) and a 15.4 Mb copy number loss on 11q23.3q25 (chr11:119,465,715–134,938,470) (Fig. 1H). Targeted next-generation sequencing using a NextSeq 550Dx instrument (Illumina, San Diego, CA, USA) with IDT xGen pre-designed/custom probes (Integrated DNA Technologies, Coralville, IA, USA) of 90 genes linked with B-cell lymphoma identified variants in
After five cycles of chemotherapy over four months, together with markedly improved imaging findings and no involvement of lymphoma in the follow-up BM study, the patient achieved remission. After four months of antiretroviral therapy, HIV RNA was below the detection limit, with an increase in CD4+ T cells by 316 cells/μL.
To the best of our knowledge, this is the first case of BLL-11q accompanied by HIV infection in East Asia. We identified the 11q aberrations by cytogenetic studies, suggesting that these technical approaches may be useful for the diagnosis of BLL-11q.
Even though flow cytometry indicated mature B-cell lymphoma in our case, there was no expression of surface immunoglobulins. Surface immunoglobulin light chain-negative B-cell non-Hodgkin lymphomas (NHLs) as well as lymphomas in HIV-infected patients tend to be clinically aggressive [6–8]. However, our patient had a good performance status with an Eastern Cooperative Oncology Group performance score of 0, with no systemic symptoms. These features may support the favorable outcome of BLL-11q.
As previously reported in BLL-11q , we detected variants in
The relationship between BLL-11q and immunocompromised conditions has not been fully evaluated . A literature review revealed seven cases of BLL-11q in immunodeficient settings (Table 1). These cases occurred strictly in males, as women are protected by estrogens against the proliferation of B-cell NHLs . Interestingly, all cases with HIV infection, including our patient, showed either an advanced tumor stage or an aggressive clinical course, but had a good response to chemotherapy.
The optimal therapy for BLL-11q remains controversial. Despite the poor prognostic factors in our patient, such as advanced-stage disease, BM involvement, and low absolute lymphocyte count, low-intensity chemotherapy (DA-EPOCH-R) was effective. These outcomes strengthen the favorable prognosis of BLL-11q and suggest consideration of dose-reduced therapy for this subgroup of lymphomas [3, 10].
Our study results suggest that detailed histopathological and cytogenetic studies are especially important in young patients with underlying immunodeficiency who exhibit morphologies of BL, DLBCL, and HGBCL. The favorable prognosis of BLL-11q emphasizes the significance of accurate diagnosis in such cases. Further research will be needed to elucidate the molecular pathogenesis of and optimal therapeutic strategies for this malignancy.
Kim JA wrote the manuscript. Kim SJ managed the patient and provided the clinical information. Kim HY, Kim HJ, and Kim SH contributed to the interpretation of the results and revision of the manuscript.
CONFLICT OF INTEREST
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