荧光原位杂交技术检测 ETV6 基因重排在去色细胞学涂片上的应用：在唾液腺癌分泌性癌诊断中的作用。

Fluorescence in situ hybridization for ETV6 gene rearrangements on destained cytological smears: Role in diagnosis of secretory carcinoma of salivary gland.

机构信息

Department of Pathology, All India Institute of Medical Sciences, New Delhi, India.

Department of Otorhinolaryngology and Head Neck Surgery, All India Institute of Medical Sciences, New Delhi, India.

出版信息

Cancer Cytopathol. 2023 Jul;131(7):442-453. doi: 10.1002/cncy.22699. Epub 2023 Mar 27.

DOI:10.1002/cncy.22699

PMID:36973972

Abstract

BACKGROUND

Fine-needle aspiration cytology (FNAC) is the first-line diagnostic procedure for salivary gland masses. Secretory carcinoma (SC) is characterized by ETV6 and RET rearrangements detected by fluorescence in situ hybridization (FISH) or reverse transcriptase-polymerase chain reaction optimized for paraffin-embedded and fresh-frozen tissue, respectively. The authors performed FISH on cytological material to assess its role in the diagnosis of SC.

METHODS

FNACs with SC as a diagnostic consideration and cases diagnosed as SC on histology with a corresponding FNAC with any diagnosis were evaluated for ETV6 rearrangement by FISH. If acinic cell carcinoma (ACC) was a differential diagnosis and ETV6 rearrangement was absent, NR4A3 FISH was performed. FISH results were compared with those on histological specimens, where available.

RESULTS

Fifteen cases were included. FISH initially performed on three cell blocks did not yield good results, was then performed on direct smears, and was interpretable in 14 cases (93.3%). An ETV6 rearrangement was identified in seven cases (50%), and an NR4A3 rearrangement was identified in three cases (21.4%), providing a confirmatory diagnosis in 10 of 15 cases (66.7%). The Milan System for Reporting Salivary Gland Cytopathology category was altered in two cases (6.7%). Complete correlation (100%) was seen with FISH on corresponding histological specimens.

CONCLUSIONS

With minor modifications, the FISH procedure can be optimized for FNAC smears with results comparable to those on histological specimens. ETV6 FISH testing on cytological smears in cases suspected as SC improves the diagnostic accuracy of FNAC and can help lower the proportion of the Milan categories salivary gland neoplasm of uncertain malignant potential and suspicious for malignancy, maximizing diagnostic information from less invasive samples and aiding in patient management.

摘要

背景

细针吸取细胞学（FNAC）是唾液腺肿块的一线诊断程序。分泌性癌（SC）的特征是 ETV6 和 RET 重排，可通过荧光原位杂交（FISH）或逆转录聚合酶链反应检测，分别针对石蜡包埋和新鲜冷冻组织进行优化。作者对细胞学标本进行了 FISH 检测，以评估其在 SC 诊断中的作用。

方法

对有 SC 诊断考虑的 FNAC 进行评估，并对组织学诊断为 SC 且对应的 FNAC 有任何诊断的病例进行 ETV6 重排的 FISH 检测。如果腺样囊性癌（ACC）是鉴别诊断，且 ETV6 重排缺失，则进行 NR4A3 FISH。将 FISH 结果与组织学标本进行比较，在有组织学标本的情况下进行。

结果

纳入了 15 例病例。最初在三个细胞块上进行的 FISH 未获得良好结果，然后在直接涂片上进行，14 例（93.3%）可进行解读。在 7 例（50%）中发现了 ETV6 重排，在 3 例（21.4%）中发现了 NR4A3 重排，在 15 例中有 10 例（66.7%）得到了确认性诊断。米兰唾液腺细胞学报告系统的分类在 2 例（6.7%）中发生了改变。在相应的组织学标本上，FISH 完全相关（100%）。

结论

通过微小的修改，可以优化 FNAC 涂片的 FISH 程序，结果与组织学标本相当。在疑似 SC 的病例中，对细胞学涂片进行 ETV6 FISH 检测可提高 FNAC 的诊断准确性，并有助于降低米兰系统唾液腺肿瘤恶性潜能不确定和疑似恶性的类别比例，最大限度地从微创样本中获取诊断信息，并有助于患者管理。