Characteristics of RET gene rearrangement detected by fluorescence in situ hybridization in lung cancer
10.3760/cma.j.cn112151-20240722-00469
- VernacularTitle:肺癌中RET基因重排的荧光原位杂交信号特征
- Author:
Yuanyuan LIU
1
;
Shafei WU
;
Xiaoding LIU
;
Kaimi LI
;
Lingli ZENG
;
Linping LU
;
Xuan ZENG
Author Information
1. 中国医学科学院 北京协和医学院 北京协和医院病理科，北京 100730
- Publication Type:Journal Article
- Keywords:
Lung neoplasms;
Gene rearrangement;
In situ hybridization, fluorescence;
Sequencing, DNA;
RET gene
- From:
Chinese Journal of Pathology
2025;54(1):36-40
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To investigate the characteristics of RET gene rearrangement revealed by fluorescence in situ hybridization (FISH) in lung cancer.Methods:A total of 616 formalin-fixed paraffin-embedded surgical samples from lung adenocarcinomas with wild-type EGFR gene and no ALK protein expression by immunohistochemistry obtained at Peking Union Medical College Hospital, Beijing, China between December 2019 and April 2022 were included. Thirty-three tumors with RET gene rearrangement determined by imbalanced-based reverse-transcription droplet digital PCR (RT-ddPCR) were analyzed using break-apart FISH. The results were confirmed, and RET gene fusion variants were identified through next generation sequencing (NGS).Results:RET gene rearrangements were found in all 33 RET RT-ddPCR positive cases via NGS, including 27 cases of KIF5B::RET, 3 CCDC6::RET, 2 ERC1::RET and 1 CCDC186::RET rearrangements. Moreover, 32 RET positive and 1 RET negative cases were defined using FISH. Among the RET FISH-positive cases, 25 (78.1%, 25/32) showed break-apart FISH signal pattern in 52%-100% of tumor cells with the rearrangement and 7 cases (21.9%, 7/32) presented isolated 3′ signal type in 38%-88% positive tumor cells. There was no RET-positive case with single 5′ pattern in the cohort. The most common partner gene was KIF5B (81.8%, 27/33). Most of the patients with RET gene rearrangement were female (72.7%, 24/33).Conclusion:RET FISH-positive lung cancer is commonly characterized by a high proportion of rearrangement cancer cells and break-apart FISH signal type.
