Assessing T-cell receptor clonality by next-generation sequencing in atypical cutaneous lymphoid infiltrates and cutaneous T-cell lymphoma: A scoping review

IF 1.6 4区 医学 Q3 DERMATOLOGY Journal of Cutaneous Pathology Pub Date : 2024-07-18 DOI:10.1111/cup.14694
Michi M. Shinohara MD, Kerri E. Rieger MD, PhD, Uma Sundram MD, PhD, Maxwell A. Fung MD, Alexandra C. Hristov MD
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Abstract

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.

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通过新一代测序评估非典型皮肤淋巴细胞浸润和皮肤T细胞淋巴瘤的T细胞受体克隆性:范围综述。
皮肤 T 细胞淋巴瘤(CTCL)的诊断仍然具有挑战性。有几项研究探讨了通过下一代测序(NGS)研究 T 细胞受体(TCR)基因重排来显示克隆 T 细胞群。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)总结了目前基于 NGS 测序方法评估非典型皮肤淋巴浸润和 CTCL 中 TCR 克隆性的文献。在 PubMed 上检索了 1967 年至 2022 年期间的相关文章,包括 CTCL 和 NGS 的克隆性。分析中纳入了 13 项研究。皮肤是 TCR NGS 最常检测的部位。皮肤中 TCR NGS 的灵敏度在 69% 到 100% 之间,而聚合酶链反应 (PCR) - 毛细管电泳的灵敏度为 44% 到 72%。皮肤中 TCR NGS 的特异性在 86% 到 100% 之间,而 PCR 毛细管电泳的特异性在 77% 到 88% 之间。据报道,TCR NGS 对 CTCL 具有潜在的预后价值,还可用于检测治疗后的复发和/或最小残留病。
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来源期刊
CiteScore
3.20
自引率
5.90%
发文量
174
审稿时长
3-8 weeks
期刊介绍: Journal of Cutaneous Pathology publishes manuscripts broadly relevant to diseases of the skin and mucosae, with the aims of advancing scientific knowledge regarding dermatopathology and enhancing the communication between clinical practitioners and research scientists. Original scientific manuscripts on diagnostic and experimental cutaneous pathology are especially desirable. Timely, pertinent review articles also will be given high priority. Manuscripts based on light, fluorescence, and electron microscopy, histochemistry, immunology, molecular biology, and genetics, as well as allied sciences, are all welcome, provided their principal focus is on cutaneous pathology. Publication time will be kept as short as possible, ensuring that articles will be quickly available to all interested in this speciality.
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