Institute of Pathology and Pathophysiology, Shandong University School of Medicine, Jinan 250012, China.
Institute of Pathology and Pathophysiology, Shandong University School of Medicine, Jinan 250012, China.
Hum Pathol. 2019 Feb;84:309-320. doi: 10.1016/j.humpath.2018.10.003. Epub 2018 Oct 17.
Classical Hodgkin lymphoma (cHL) and ALK- anaplastic large cell lymphoma (ALCL) share many morphologic and immunohistochemical features, causing difficulties in differential diagnosis. Aberrant T-cell/B-cell antigen (TCA/BCA) expression in cHL/ALCL has previously been reported, but differences in the broader morphologic and genetic features still remain unclear. We first explored the histologic and immunohistochemical characteristics of cHL and ALCL with or without aberrant expression. Of 68 cHL cases, 10 (14.71%) were found to express 1 or more TCAs, and the frequency was as follows: CD4 > CD2 > CD3 > CD5 = CD7. Only 1 (3.33%) of 30 ALCL cases expressed BCA. Histologically, the main subtypes of cHL with aberrant TCA expression were LD and NS2. These aberrant TCA-expressing cHL tumor cells exhibited some ALCL features, and the aberrant BCA-expressing ALCL tumor cells displayed cHL characteristics. We also performed whole-exome sequencing analysis on cHL and ALCL samples with aberrant expression and compared them with those without aberrant expression. The results of this analysis showed that GNE and CACNB2 mutations, involved in the MAPK signaling pathway, may play an important role in cHL. In addition, 135 mutation sites involved in multiple signaling pathways were identified in ALCL. In the aberrant-expression cases, genetic features were similar between cHL and ALCL, consistent with their morphologic features. Our results broaden the understanding of the histologic and immunohistochemical characteristics of cHL and ALCL with aberrant expression and, for the first time, compare genetic features between cHL and ALCL with and without aberrant expression.
经典型霍奇金淋巴瘤（cHL）和间变性大细胞淋巴瘤（ALCL）具有许多形态学和免疫组织化学特征，导致鉴别诊断困难。cHL/ALCL 中异常 T 细胞/ B 细胞抗原（TCA/BCA）的表达先前已有报道，但在更广泛的形态学和遗传学特征方面仍存在差异。我们首先探索了具有或不具有异常表达的 cHL 和 ALCL 的组织学和免疫组织化学特征。在 68 例 cHL 病例中，发现 10 例（14.71%）表达 1 种或多种 TCA，频率如下：CD4 > CD2 > CD3 > CD5 = CD7。仅 30 例 ALCL 病例中的 1 例（3.33%）表达 BCA。组织学上，具有异常 TCA 表达的 cHL 的主要亚型是 LD 和 NS2。这些异常 TCA 表达的 cHL 肿瘤细胞表现出一些 ALCL 特征，而异常 BCA 表达的 ALCL 肿瘤细胞表现出 cHL 特征。我们还对具有异常表达的 cHL 和 ALCL 样本进行了全外显子组测序分析，并将其与无异常表达的样本进行了比较。该分析的结果表明，涉及 MAPK 信号通路的 GNE 和 CACNB2 突变可能在 cHL 中发挥重要作用。此外，在 ALCL 中还鉴定出涉及多个信号通路的 135 个突变位点。在异常表达病例中，cHL 和 ALCL 的遗传特征相似，与它们的形态学特征一致。我们的研究结果拓宽了对具有异常表达的 cHL 和 ALCL 的组织学和免疫组织化学特征的认识，并且首次比较了具有和不具有异常表达的 cHL 和 ALCL 的遗传特征。
