Genotyping and cytomorphological subtyping of lung adenocarcinoma based on liquid-based cytology
Genotyping and cytomorphological subtyping of lung adenocarcinoma based on liquid-based cytology
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DOI：
10.1002/dc.24154
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发表时间：
2019-06-01
影响因子：
1.3
通讯作者：
Kondo, Haruhiko
中科院分区：
文献类型：
--
作者：
Tanaka, Ryota;Sakamoto, Norihiko;Kondo, Haruhiko
背景 液基细胞学 (LBC) 样品允许在剩余的固定细胞中进行免疫组织化学 (IHC)、荧光原位杂交 (FISH) 和核酸分子检测。本研究旨在使用 LBC 材料检查原发性肺腺癌 (ADC) 基因突变状态与细胞形态学特征之间的关系。方法连续40例原发性肺ADC患者在我院接受手术切除。通过刮擦病灶切面获得细胞学材料，并使用CytoRich Red将样品固定并保存为LBC材料。检测表皮生长因子受体（EGFR）和Kirsten大鼠肉瘤病毒癌基因同源物（KRAS）突变、间变性淋巴瘤激酶（ALK）和c-ros癌基因1（ROS1）基因重排，并进行细胞形态学研究。结果 20例（50%）EGFR突变阳性，4例（10%）KRAS突变阳性。 IHC和FISH检测发现1例（2.5%）ALK基因重排，IHC和实时聚合酶链反应检测1例（2.5%）ROS1基因重排。与 EGFR 阳性组和另一组（包括 ALK 和 ROS1 基因重排）相比，KRAS 阳性组中具有炎症背景（100%）、主要为乳头状结构（75%）和乳头状 ADC 模式（75%）的病例比例较高。结论 LBC 材料适合用于分子检测。通过这种方法检测到的主要基因畸变的差异可以预测特定的细胞形态学特征。
Background Liquid-based cytology (LBC) samples allow immunohistochemistry (IHC), fluorescence in situ hybridization (FISH), and molecular testing of nucleic acids to be performed in the remaining fixed cells. The current study aimed to examine the relationship between gene mutational status and cytomorphological features in primary lung adenocarcinoma (ADC) using LBC materials. Methods Forty consecutive patients with primary lung ADC underwent surgical resection in our hospital. Cytological material was obtained by scraping the cut-surface of the lesion, and samples were fixed and stored as LBC materials using CytoRich Red. Epidermal growth factor receptor (EGFR) and Kirsten rat sarcoma viral oncogene homolog (KRAS) mutations, anaplastic lymphoma kinase (ALK), and c-ros oncogene 1 (ROS1) gene rearrangements were detected, and cytomorphological studies were performed. Results Twenty cases (50%) were positive for EGFR mutation and four (10%) were positive for KRAS mutation. ALK gene rearrangement was identified in one case (2.5%) by IHC and FISH, and ROS1 gene rearrangement was identified in one case (2.5%) by IHC and real-time polymerase chain reaction. The KRAS-positive group included higher proportions of cases with an inflammatory background (100%), predominantly papillary architecture (75%), and papillary-type ADC pattern (75%) compared with the EGFR-positive group and the other group, which included ALK and ROS1 gene rearrangements. Conclusions LBC material is suitable for use in molecular testing. Differences in major gene aberrations detected by this method might predict specific cytomorphological features.