由于缺乏组织结构和辅助测试材料有限，软组织肿瘤的细针抽吸标本变得复杂。关于下一代测序技术用于软组织细胞学标本融合检测的可行性的数据很少。本研究探讨了基于锚定多重聚合酶链反应 (PCR) 的基因融合检测在辅助诊断细胞学样本上的间质肿瘤方面的作用。在实验室信息系统中查询了经过锚定多重 PCR 检测的细胞学样本。排除上皮和血液淋巴肿瘤后，收集剩余病例的临床和病理信息。使用锚定多重PCR检测了1609份细胞学标本。其中，48 份（3%）是间叶性肿瘤的细胞学标本。 48 例病例中，有 14 例 (29%) 的可报告融合转录物锚定多重 PCR 呈阳性； 32 例（67%）未检测到融合，2 例（4%）组织分析不足。可检测的融合伴侣包括 ALK (n = 4)、STAT6 (n = 4)、EWSR1 (n = 3) 以及 SS18、YAP1 和 PHF1 各一个。在检测到融合伴侣的病例中，14 例中的 8 例在细胞学准备上明确了疾病，14 例中的 6 例提供了先前诊断的肿瘤转移灶的分子确认。基于锚定的多重 PCR 基因融合测定是一种强大的正交工具，有助于诊断细胞学标本上的间质肿瘤。在大多数测试病例中，用于细胞学分析的材料产生了足够质量/数量的组织。© 2024 美国癌症协会。

Fine-needle aspiration specimens from soft tissue tumors are complicated by lack of tissue architecture and limited material for ancillary testing. There are little data on the feasibility of next-generation sequencing techniques for fusion detection on soft tissue cytology specimens. This study explored the role of an anchored multiplex polymerase chain reaction (PCR)-based gene fusion assay in aiding the diagnosis of mesenchymal neoplasms on cytology samples.The laboratory information system was queried for cytology specimens that had undergone testing by anchored multiplex PCR. After exclusion of epithelial and hematolymphoid neoplasms, clinical and pathologic information was collected on the remaining cases.There were 1609 cytology specimens tested with anchored multiplex PCR. Of these, 48 (3%) were cytology specimens from mesenchymal tumors. Anchored multiplex PCR was positive for a reportable fusion transcript in 14 of 48 cases (29%); there was no fusion detected in 32 cases (67%), and there was insufficient tissue for analysis in two cases (4%). The detectable fusion partners included ALK (n = 4), STAT6 (n = 4), EWSR1 (n = 3), and one each of SS18, YAP1, and PHF1. Of the cases in which a fusion partner was detected, eight of 14 were disease-defining on cytology preparation, and six of 14 provided molecular confirmation of a metastatic focus of a previously diagnosed tumor.The anchored, multiplex PCR-based gene fusion assay is a powerful orthogonal tool in helping diagnose mesenchymal neoplasms on cytology specimens. The material obtained for cytologic analysis yields sufficient quality/quantity of tissue in the majority of cases tested.© 2024 American Cancer Society.