Department of Dermatology, University of Washington, Seattle, Washington, USA.
Department of Pathology and Laboratory Medicine, University of Washington, Seattle, Washington, USA.
J Cutan Pathol. 2024 Oct;51(10):813-819. doi: 10.1111/cup.14694. Epub 2024 Jul 18.
The diagnosis of cutaneous T-cell lymphoma (CTCL) remains challenging. Demonstration of a clonal T-cell population using T-cell receptor (TCR) gene rearrangement studies by next-generation sequencing (NGS) has been explored in several studies. This review summarizes the current literature on NGS-based sequencing methods for the assessment of TCR clonality in the evaluation of atypical cutaneous lymphoid infiltrates and CTCL on behalf of the American Society of Dermatopathology Appropriate Use Criteria Committee (lymphoproliferative subgroup). PubMed was searched for relevant articles, including CTCL and NGS, for clonality from 1967 to 2022. Thirteen studies were included in the analysis. The skin was the most commonly assayed compartment with TCR NGS. Sensitivity for TCR NGS in the skin ranged between 69% and 100%, compared to 44%-72% for polymerase chain reaction (PCR)-capillary electrophoresis. Specificity for TCR NGS in the skin ranged from 86% to 100%, compared to 77%-88% for PCR capillary electrophoresis. TCR NGS was also reported to have potential prognostic value in CTCL and can also be used to detect relapse and/or minimal residual disease after treatment.
皮肤 T 细胞淋巴瘤 (CTCL) 的诊断仍然具有挑战性。使用下一代测序 (NGS) 的 T 细胞受体 (TCR) 基因重排研究来证明克隆性 T 细胞群已在多项研究中进行了探索。本综述代表美国皮肤病理学会适当使用标准委员会 (淋巴增生亚组) ,总结了目前关于 TCR 克隆性评估的 NGS 测序方法在评估非典型皮肤淋巴样浸润和 CTCL 中的应用文献。在 1967 年至 2022 年期间,PubMed 上搜索了包括 CTCL 和 NGS 在内的关于克隆性的相关文章。分析中包括了 13 项研究。皮肤是最常用于 TCR NGS 检测的部位。与聚合酶链反应 (PCR)-毛细管电泳的 44%-72%相比,TCR NGS 在皮肤中的敏感性为 69%-100%。与 PCR 毛细管电泳的 77%-88%相比,TCR NGS 在皮肤中的特异性为 86%-100%。TCR NGS 还被报道在 CTCL 中具有潜在的预后价值,并且也可以用于检测治疗后的复发和/或微小残留疾病。