Wangpan Jackson Shi, Joshua Nguyen, Wei Song, Huan-You Wang, Grace Y Lin, Oluwole Fadare, Li Lei
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引用次数: 0
摘要
在分化不良肿瘤的诊断工作中,T 细胞受体(TCR)克隆性一直被认为是 T 细胞淋巴瘤的证据。MET外显子14缺失(METex14)是肺腺癌中常见的一种突变。在此,我们首次报告了 METex14 肺腺癌伴孤立的单克隆 TCRγ 基因重排。一名 69 岁的妇女因胸腔积液到外院就诊。胸膜剥离术显示恶性细胞 CD30 和 CD138 阳性,但 BerEP4、KRT5 和 EMA 阴性。HHV8 染色结果不明确,被解释为阳性,因此被误诊为原发性积液淋巴瘤。在本院进行的进一步检查发现,患者体内缺乏 HHV8 和 T 细胞标记物,但存在 TCRγ 克隆、pankeratin 和 TTF1 表达。对内部活检进行的重复TCRγ检测结果显示克隆性阴性。下一代测序检测出 METex14,确诊为肺腺癌。本文讨论了潜在的诊断误区和预后/预测意义。
Isolated Monoclonal T-Cell Receptor Gene Rearrangement in a Lung Adenocarcinoma Harboring MET Exon 14 Skipping: Diagnostic Pitfall.
In the diagnostic workup of poorly differentiated tumors, T-cell receptor (TCR) clonality has long been considered as evidence of T-cell lymphoma. MET exon 14 skipping (METex14) is a mutation typically seen in lung adenocarcinoma. Herein, we present the first report of METex14 lung adenocarcinoma with isolated monoclonal TCRγ gene rearrangement. A 69-year-old woman presented to an outside hospital with pleural effusions. A pleural decortication demonstrated malignant cells positive for CD30 and CD138 but negative for BerEP4, KRT5, and EMA. An equivocal HHV8 staining was interpreted as positive, leading to the erroneous outside diagnosis of primary effusion lymphoma. Additional workup at our institution revealed a lack of HHV8 and T-cell markers but the presence of TCRγ clonality, pankeratin, and TTF1 expression. Repeat TCRγ testing on the in-house biopsy was negative for clonality. Next-generation sequencing detected METex14, confirming the diagnosis of lung adenocarcinoma. The potential diagnostic pitfall and prognostic/predictive implications are discussed.
期刊介绍:
International Journal of Surgical Pathology (IJSP) is a peer-reviewed journal published eight times a year, which offers original research and observations covering all major organ systems, timely reviews of new techniques and procedures, discussions of controversies in surgical pathology, case reports, and images in pathology. This journal is a member of the Committee on Publication Ethics (COPE).