Ten-gene panel detection for cytological specimens of lung adenocarcinoma
10.13315/j.cnki.cjcep.2024.10.006
- VernacularTitle:肺腺癌细胞学标本十基因联合检测分析
- Author:
Xuelian ZHANG
1
;
Kai CHENG
;
Qiu RAO
Author Information
1. 南京医科大学金陵临床医学院,南京 210002;南京金域医学检验所有限公司,南京 210032
- Keywords:
lung adenocarcinoma;
cell block;
driver gene;
joint detection;
immunohistochemistry;
targeted therapy
- From:
Chinese Journal of Clinical and Experimental Pathology
2024;40(10):1033-1040
- CountryChina
- Language:Chinese
-
Abstract:
Purpose To explore the application and clini-cal significance of molecular detection in cell block specimens of lung adenocarcinoma.Methods A total of 200 cell block spec-imens of lung adenocarcinoma were collected.Among them 49 specimens underwent multi-gene panel detection(including EG-FR,EML4-ALK,ROS1,KRAS,HER2,BRAF,RET,MET,NRAS,and PIK3CA),while 151 specimens underwent EGFR single-gene detection.In addition,97 specimens were tested for EML4-ALK fusion gene alterations using the Ventana method,and the results were compared with that by PCR detection.The mutation characteristics were summarized,and the cytological features of the mutations and fusions were observed.Results The positive rate of driver gene mutations in 49 cases of multi-gene panel detection was 65.31％,which indicated no statisti-cally significant difference from that of 99 lung adenocarcinoma tissue specimens(P＞0.05).The positive rates of ALK,ROS1,and RET fusion mutations were 4.08％,4.08％,and 2.04％,respectively,and the positive rates of EGFR,KRAS,HER2,MET,and BRAF mutations were 38.78％,6.12％,4.08％,4.08％,and 2.04％,respectively.The mutation rate of EGFR in 151 cases of single-gene detection was 54.97％,with a mutation rate of 42.86％in males and 67.57％in fe-males,showing a statistically significant difference between gen-ders(P＜0.05).Exon 19 deletion mutation(19-Del)and exon 21 point mutation(21-L858R)in the EGFR gene took the high-est proportions,accounting for 54.22％and 37.35％,respec-tively,significantly higher than other mutation types(P＜0.001).The positive rate of EML4-ALK fusion gene immuno-histochemistry(IHC)in 97 cytological paraffin-embedded speci-mens was 15.46％,among which 6 cases with weak positivity(+)showed negative results in molecular detection,and 9 ca-ses with diffuse positivity(+++)showed positive results in molec-ular detection.The results of immunohistochemistry were highly consistent with molecular detection in cases with diffuse strong positivity(Kappa=1).It was found from the cytological mor-phology of cases with gene alterations that KARS mutation carri-ers were born with unique characteristics,with tumor cells scat-tered or arranged in small clusters and more cytoplasmic vacu-oles were commonly seen.Conclusion Molecular detection in cytological specimens of lung adenocarcinoma is feasible with higher sensitivity.Multi-gene panel detection is superior to sin-gle-gene detection.Immunohistochemistry can be used for screening EML4-ALK fusion gene,and lung adenocarcinoma with KRAS mutation that exhibits distinct cytological morpholo-gy.
