Department of Hematology, Xiangya Hospital Central South University, 87 Xiangya Road, Changsha, 410008, People's Republic of China.
Department of Pathology, Xiangya Hospital Central South University, 87 Xiangya Road, Changsha, 410008, People's Republic of China.
Diagn Pathol. 2021 Nov 8;16(1):103. doi: 10.1186/s13000-021-01166-4.
We present a unique case of primary breast CD20-positive extranodal NK/T cell lymphoma with stomach involvement in a young Chinese female patient.
The patient presented with a mass in her right breast that rapidly increased in size over approximately 2 months. Upper gastrointestinal endoscopy showed a giant serpentine ulcer in the stomach. Biopsy was performed, and microscopic inspection revealed that the fibrous tissue was diffusely involved by medium to large abnormal lymphocytes. The cytoplasm was low to moderate. The tumor cells had irregular nuclei and inconspicuous nucleoli. The lymphoid cells were strongly immunoreactive to CD20, CD3, CD4, CD56, TIA-1, EBER, and Ki-67 (90%). Epstein-Barr virus genomes were also found in tumor cells by in situ hybridization. A whole-body positron emission tomography (PET)-CT scan revealed intense FDG uptake in the right breast and greater curvature of the stomach. Monoclonal rearrangements of the T cell receptor (TCR-γ) and immunoglobulin heavy chain (IgH) were identified by genetic analysis. Whole-genome next-generation sequencing was performed, and up to 12 gene mutations, including a frameshift mutation in exon 4 of the BCOR (G97Rfs*87; 44.3%) gene and a base substitution mutation (Q61H 17.6%) in exon 3 of the KRAS gene, were detected. Kyoto Encyclopedia of Genes and Genomes pathway analyses were performed using the database for annotation, visualization, and integrated discovery, which showed that rare primary breast CD20-positive extranodal NK/T cell lymphoma had a unique genetic background compared with diffuse large B cell lymphoma and extranodal NK/T cell lymphoma without CD20 expression. The patient received four cycles of the modified SMILE regimen. The second whole-body PET-CT scan revealed that the right breast mass was significantly smaller than before; additionally, FDG uptake in the stomach wall disappeared.
Systemic examination, extensive immunohistochemistry, and molecular profiling are essential for an accurate diagnosis. More similar cases are required to clarify the biological pathways and even the potential molecular mechanisms of rare lymphomas, which may help direct further treatment.
我们报告了一例罕见的原发于乳腺的 CD20 阳性结外 NK/T 细胞淋巴瘤，伴胃部受累，发生于一位年轻的中国女性患者。
该患者因右侧乳腺肿块就诊，肿块在大约 2 个月内迅速增大。上消化道内镜检查显示胃内有一巨大蛇形溃疡。行活检，显微镜下观察发现纤维组织中弥漫性累及中等至大异常淋巴细胞。胞质低-中度染色。肿瘤细胞核不规则，核仁不明显。淋巴细胞强烈表达 CD20、CD3、CD4、CD56、TIA-1、EBER 和 Ki-67（90%）。原位杂交还发现肿瘤细胞中存在 Epstein-Barr 病毒基因组。全身正电子发射断层扫描（PET）-CT 扫描显示右乳腺和胃大弯处 FDG 摄取明显增加。通过基因分析发现 T 细胞受体（TCR-γ）和免疫球蛋白重链（IgH）的单克隆重排。进行全基因组下一代测序，检测到多达 12 种基因突变，包括 BCOR 基因外显子 4 中的框移突变（G97Rfs*87；44.3%）和 KRAS 基因外显子 3 中的碱基替换突变（Q61H 17.6%）。使用数据库进行注释、可视化和综合发现的京都基因与基因组百科全书通路分析显示，与弥漫性大 B 细胞淋巴瘤和不表达 CD20 的结外 NK/T 细胞淋巴瘤相比，罕见的原发性乳腺 CD20 阳性结外 NK/T 细胞淋巴瘤具有独特的遗传背景。患者接受了 4 个周期的改良 SMILE 方案治疗。第二次全身 PET-CT 扫描显示右侧乳腺肿块明显缩小，胃壁 FDG 摄取消失。
系统检查、广泛的免疫组织化学和分子分析对于准确诊断至关重要。需要更多类似病例来阐明罕见淋巴瘤的生物学途径甚至潜在的分子机制，这可能有助于指导进一步的治疗。
