Preliminary assessment of the diagnostic accuracy of cutaneous T-cell lymphoma through deep sequencing of T-cell receptor gamma gene.

IF 3.7 4区 医学 Q1 DERMATOLOGY Clinical and Experimental Dermatology Pub Date : 2024-11-06 DOI:10.1093/ced/llae413
Jin-Bon Hong, Tyng-Shiuan Hsieh, Tsen-Fang Tsai, Jau-Yu Liau, Hsien-Ching Chiu, Tung-Lung Lee, Tai-Chung Huang
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Abstract

Background: The diagnostic challenges in early mycosis fungoides (MF) and other cutaneous T-cell lymphomas (CTCL) persist despite advancements in molecular methods.

Aim: The study aims to provide a preliminary assessment of next-generation sequencing in analyzing T-cell receptor gamma (TRG) sequences for distinguishing CTCL from benign inflammatory disorders.

Methods: Skin samples from CTCL and benign inflammatory skin disorders proven clinicopathologically were assessed for TRG by NGS.

Results: Our study analyzed skin samples from a total of 36 subjects, comprising 22 cases of CTCL, including 14 MF and 8 other CTCLs, alongside 14 cases of benign inflammatory skin disorders. According to the LymphoTrack criteria, monoclonality was detected in 75.0 % of the overall 24 CTCL patients. Specifically, in MF cases, 10 out of 14 were identified as monoclonality, with all four non-monoclonal cases being in the patch stage. For the other CTCL, 6 out of 8 cases displayed monoclonality. Among the overall 22 CTCL patients, 11 had multiple biopsies, with 9 displaying the same dominant clone across different sites. Among the 14 benign cases, only the case with erythrodermic psoriasis exhibited monoclonality. Our decision tree analysis suggests that a high frequency of the most abundant clone, its ratio to the third most abundant clone, and TRG V-I segment usage are effective markers aiding in diagnosing CTCL.

Conclusion: Combination of the clone frequencies, and TRG V segment usage may enhance diagnosis for MF and other CTCLs, aiding in differentiating them from benign conditions. However, molecular diagnosis for patch-stage MF remains challenging.

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通过T细胞受体γ基因深度测序初步评估皮肤T细胞淋巴瘤的诊断准确性。
背景:目的:本研究旨在对下一代测序在分析T细胞受体γ(TRG)序列以区分CTCL和良性炎症性疾病方面的应用进行初步评估:通过 NGS 评估经临床病理证实的 CTCL 和良性炎症性皮肤病的皮肤样本中的 TRG:我们的研究共分析了 36 例受试者的皮肤样本,其中包括 22 例 CTCL(包括 14 例 MF 和 8 例其他 CTCL)以及 14 例良性皮肤炎症性疾病。根据 LymphoTrack 标准,在全部 24 例 CTCL 患者中,75.0% 的患者被检测出单克隆性。具体来说,在中耳炎病例中,14 例中有 10 例被确定为单克隆病例,其中 4 例非单克隆病例均处于斑块期。在其他 CTCL 病例中,8 例中有 6 例表现为单克隆性。在所有 22 例 CTCL 患者中,有 11 例进行了多次活检,其中 9 例在不同部位显示出相同的优势克隆。在 14 例良性病例中,只有红皮病型银屑病病例表现出单克隆性。我们的决策树分析表明,最大量克隆的高频率、其与第三大量克隆的比率以及TRG V-I段的使用是诊断CTCL的有效标记:结论:结合克隆频率和TRG V段的使用可提高对中性粒细胞白血病和其他CTCL的诊断率,有助于将它们与良性疾病区分开来。然而,斑块期 MF 的分子诊断仍具有挑战性。
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来源期刊
CiteScore
3.20
自引率
2.40%
发文量
389
审稿时长
3-8 weeks
期刊介绍: Clinical and Experimental Dermatology (CED) is a unique provider of relevant and educational material for practising clinicians and dermatological researchers. We support continuing professional development (CPD) of dermatology specialists to advance the understanding, management and treatment of skin disease in order to improve patient outcomes.
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