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蕈样肉芽肿中特定的 TCR 基因重排:晚期临床阶段是否存在偏好?

Specific TCR gene rearrangements in mycosis fungoides: does advanced clinical stage show a preference?

机构信息

Department of Pathology, NYU Langone Medical Center, New York, USA

Department of Pathology, Montefiore Medical Center/Albert Einstein College of Medicine, Bronx, New York, USA.

出版信息

J Clin Pathol. 2018 Dec;71(12):1072-1077. doi: 10.1136/jclinpath-2018-205324. Epub 2018 Aug 31.

Abstract

AIMS

The relationship between the presence of specific T-cell receptor (TCR) gene rearrangements and clinical stage in mycosis fungoides (MF) has not been studied. We analysed a cohort of patients with a diagnosis of MF to determine the different types of specific TCR gene rearrangements present and their relationship to disease stage.

METHODS

A retrospective chart review was used to select patients with a diagnosis of MF who had a skin biopsy and a positive TCR gene rearrangement study in either blood or tissue and at least 2 years of clinical follow-up.

RESULTS

43 patients were identified and divided into two groups. The first group consisted of 23 patients with early stage disease (IA-IIA) that was either stable or went into partial or complete remission with minimal intervention. None of these patients advanced to late stage disease. The second group consisted of 20 patients who had either late stage disease at diagnosis or progressed to late stage disease at some point in time. In the first group, only 4/23 (17%) patients had a single TCR gene rearrangement in the Vɣ1-8 region. In contrast, the second group had 13/20 (65%) patients with a single TCR gene rearrangement in the Vɣ1-8 region (p=0.002).

CONCLUSION

The presence of a single TCR gene rearrangement in the Vɣ1-8 region could possibly be related to a more advanced stage of MF. However, more comprehensive studies, such as next generation sequencing, with a larger cohort is necessary for a more definitive conclusion.

摘要

目的

蕈样肉芽肿(MF)中特定 T 细胞受体(TCR)基因重排与临床分期之间的关系尚未得到研究。我们分析了一组 MF 患者,以确定存在的不同类型的特异性 TCR 基因重排及其与疾病分期的关系。

方法

回顾性病历分析选择了诊断为 MF 的患者,这些患者进行了皮肤活检,并且在血液或组织中存在阳性 TCR 基因重排研究,且至少有 2 年的临床随访。

结果

共确定了 43 例患者,并将其分为两组。第一组有 23 例早期疾病(IA-IIA)患者,这些患者的疾病稳定或经最小干预后部分或完全缓解,无一例进展为晚期疾病。第二组有 20 例患者,其诊断时即处于晚期疾病,或在某个时间点进展为晚期疾病。在第一组中,仅有 4/23(17%)例患者在 Vɣ1-8 区有单个 TCR 基因重排。相比之下,第二组中有 13/20(65%)例患者在 Vɣ1-8 区有单个 TCR 基因重排(p=0.002)。

结论

Vɣ1-8 区单个 TCR 基因重排可能与 MF 更晚期有关。但是,为了得出更明确的结论,需要进行更多的研究,如下一代测序,以获得更大的队列。

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