Int J Hematol. 2013 Oct;98(4):478-82. doi: 10.1007/s12185-013-1414-9.
Unclassifiable B-cell lymphoma with features intermediate between diffuse large B-cell lymphoma (DLBCL) and Burkitt lymphoma (BL) is a recently recognized category of mature B-cell lymphoma. This represents a heterogeneous group of diseases which often pose diagnostic problems in clinical practice, yet its distinction from DLBCL to BL is important for its therapeutic and prognostic implications. We report the challenging diagnostic process of a 60-year-old man. He had a CD10 and BCL2-positive, BCL6-negative B-cell malignancy with loss of multiple B-cell markers including surface immunoglobulin. The karyotype was complex and unusual, including t(2;18)(p12;q21), t(8;14)(q24;q32) and a derivative chromosome 22 mimicking a Philadelphia chromosome that led to initial diagnostic confusion. A triple-hit gray zone B-cell lymphoma with rearrangements of MYC, BCL2, BCL6, both alleles of IGH and likely IGK and IGL was finally diagnosed upon additional fluorescence in situ hybridization (FISH) studies. His disease was nonresponsive to intensive combination chemotherapy and he died 4 months after presentation. This case illustrates the diagnostic difficulty encountered in such group of B-cell lymphomas and emphasizes the need to integrate morphological, immunophenotypic and genetic data in making a diagnosis.
具有弥漫性大 B 细胞淋巴瘤 (DLBCL) 和伯基特淋巴瘤 (BL) 之间特征的未分类 B 细胞淋巴瘤是最近被认识到的成熟 B 细胞淋巴瘤类别。这代表了一组异质性疾病,在临床实践中经常会带来诊断问题,但将其与 DLBCL 区分开来与 BL 对其治疗和预后意义重大。我们报告了一位 60 岁男性的具有挑战性的诊断过程。他患有 CD10 和 BCL2 阳性、BCL6 阴性的 B 细胞恶性肿瘤,丧失了多个 B 细胞标志物,包括表面免疫球蛋白。核型复杂且异常,包括 t(2;18)(p12;q21)、t(8;14)(q24;q32)和一个类似于费城染色体的衍生染色体 22,导致最初的诊断混淆。经过额外的荧光原位杂交 (FISH) 研究,最终诊断为三重打击灰色区域 B 细胞淋巴瘤,存在 MYC、BCL2、BCL6、IGH 两个等位基因以及可能的 IGK 和 IGL 重排。他的疾病对强化联合化疗无反应,在就诊后 4 个月死亡。该病例说明了在这种 B 细胞淋巴瘤组中遇到的诊断困难,并强调了在做出诊断时需要整合形态学、免疫表型和遗传学数据。