Department of Pathology and Molecular Diagnostics, Graduate School of Medical Sciences, Nagoya City University, Nagoya, Japan.
Department of Hematology and Oncology, Graduate School of Medical Sciences, Nagoya City University, Nagoya, Japan.
Int J Hematol. 2019 Oct;110(4):389-392. doi: 10.1007/s12185-019-02728-5. Epub 2019 Aug 29.
CCR4 is expressed on tumor cells of most patients with adult T-cell leukemia/lymphoma (ATL). Gain-of-function mutations of the CCR4 gene in ATL patients may be associated with alterations at the carboxyl terminus, a finding which led to a high efficacy anti-CCR4 antibody, mogamulizumab. Only a few studies have reported CCR4 protein expression and genomic CCR4 mutations in non-ATL T/NK-cell lymphomas. Furthermore, an association between CCR4 protein expression, genomic CCR4 mutations, and transcript CCR4 mutations has not been well analyzed. The T/NK-cell lymphomas (n = 226) enrolled in this study were examined for CCR4 expression by immunohistochemistry. CCR4 mutations in the codons 322-348 were detected by direct sequencing and a SNaPshot Multiplex assay. CCR4 protein expression was positive in 48/52 (92%) and 58/174 (33%) of ATL and non-ATL cases, respectively, and genomic CCR4 mutations were detected in 17/52 (33%) and 6/174 (3.4%), respectively. While all 17 ATL cases with genomic CCR4 mutations were positive for CCR4 protein expression, five of six mutated non-ATL cases were negative for CCR4 protein expression and transcript CCR4 mutations. This study suggests that frequencies of CCR4 expression and genomic CCR4 mutations and an association between the two may be considerably different between ATL cases and non-ATL T/NK-cell lymphomas.
CCR4 在大多数成人 T 细胞白血病/淋巴瘤(ATL)患者的肿瘤细胞上表达。ATL 患者 CCR4 基因的功能获得性突变可能与羧基末端的改变有关,这一发现导致了高效的抗 CCR4 抗体 mogamulizumab 的产生。只有少数研究报道了非 ATL T/NK 细胞淋巴瘤中 CCR4 蛋白表达和基因组 CCR4 突变。此外,CCR4 蛋白表达、基因组 CCR4 突变和转录 CCR4 突变之间的关联尚未得到很好的分析。本研究共纳入 226 例 T/NK 细胞淋巴瘤患者,通过免疫组化检测 CCR4 表达。通过直接测序和 SNaPshot Multiplex assay 检测 CCR4 基因 322-348 密码子的突变。结果显示,48/52(92%)例 ATL 和 58/174(33%)例非 ATL 病例中 CCR4 蛋白表达阳性,分别有 17/52(33%)和 6/174(3.4%)例存在基因组 CCR4 突变。虽然所有 17 例存在基因组 CCR4 突变的 ATL 病例的 CCR4 蛋白表达均为阳性,但 6 例存在基因组 CCR4 突变的非 ATL 病例中,有 5 例 CCR4 蛋白表达为阴性且存在转录 CCR4 突变。本研究表明,CCR4 表达、基因组 CCR4 突变的频率以及两者之间的关联在 ATL 病例和非 ATL T/NK 细胞淋巴瘤中可能存在显著差异。