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细胞学与下一代测序和液体活检相遇:以指骨转移为表现的肺腺癌病例。

Cytology meets next generation sequencing and liquid biopsy: A case of lung adenocarcinoma presenting as metastasis to the phalanx.

机构信息

Department of Public Health, University of Naples Federico II, Naples, Italy.

Department of Advanced Biomedical Sciences, University of Naples Federico II, Naples, Italy.

出版信息

Diagn Cytopathol. 2020 Aug;48(8):759-764. doi: 10.1002/dc.24438. Epub 2020 Apr 22.

Abstract

Carcinomas do rarely metastasize to the finger. Non-small-cell lung cancer is most frequently involved. To date, only a few cases have been reported, on histology. Here we describe the cytological features of a metastatic lung adenocarcinoma case to the phalanx of the right forefinger as initial manifestation of the neoplastic disease in a 69-years-old woman. The cytological microscopic findings, complemented by a wide array of ancillary techniques, were confirmed by histology. Neoplastic cells were positive for cytokeratin 7 (CK7) and thyroid transcription factor 1 (TTF-1), harboring, in tissue and in bloodstream samples, an uncommon epidermal growth factor receptor (EGFR) exon 20 p.S768_D760DUP, detected by next generation sequencing (NGS) and liquid biopsy. Cytology corroborated by immunocytochemistry, NGS, and liquid biopsy is a modern approach to provide diagnostic and therapeutic information even in rare and challenging cases.

摘要

癌很少转移到手指。非小细胞肺癌最常受累。迄今为止,只有少数病例在组织学上有报道。在这里,我们描述了一例右食指指骨转移性肺腺癌的细胞学特征,这是一例 69 岁女性肿瘤疾病的最初表现。细胞学显微镜检查结果,辅以广泛的辅助技术,通过组织学得到证实。肿瘤细胞 CK7(细胞角蛋白 7)和甲状腺转录因子 1(TTF-1)阳性,在组织和血液样本中存在罕见的表皮生长因子受体(EGFR)外显子 20 p.S768_D760DUP,通过下一代测序(NGS)和液体活检检测到。细胞学结合免疫细胞化学、NGS 和液体活检是一种现代方法,可以提供诊断和治疗信息,即使在罕见和具有挑战性的情况下也是如此。

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