Performance Evaluation of SHOX2 and RASSF1A Methylation for the Aid in Diagnosis of Lung Cancer Based on the Analysis of FFPE Specimen

Frontiers in Oncology

Bin She¹  Jun Gu²  Xuyou Zhu²  Xianghua Yi²  Juanhong Shi²  Yuting Liu²  Haoyang Zhang²  Xue Chen²  Long Zhang²  Suxia Zhang²  Hongxiu Han²  Xia Fang³  Lichao Fan⁴ 

[1] Academic Development, Tellgen Corporation, Shanghai, China;Department of Pathology, Tongji Hospital, Tongji University, Shianghai, China;Department of Pulmonary and Critical Care Medicine, Dongfang Hospital Affiliated to Tongji University, Shanghai, China;Department of Pulmonary and Critical Care Medicine, Shanghai Pulmonary Hospital Affiliated to Tongji University, Shanghai, China;

关键词: lung cancer;    SHOX2;    RASSF1A;    DNA methylation;    epigenetic field defect;   

DOI  :  10.3389/fonc.2020.565780

来源: DOAJ

【 摘 要 】

Emerging molecular diagnostic methods are more sensitive and objective, which can overcome the intrinsic failings of morphological diagnosis. Here, a RT-PCR-based in vitro diagnostic test kit (LungMe®) was developed and characterized to simultaneously quantify the DNA methylation of SHOX2 and RASSF1A in FFPE tissue specimens. The clinical manifestations were evaluated in 251 FFPE samples with specificity and sensitivity of 90.4 and 89.8%, respectively. Furthermore, the quantitative analysis shows that the degree of SHOX2 methylation was correlated with the stages of lung cancer, but not in the case of RASSF1A. Our observation indicated that the DNA methylation of SHOX2 and RASSF1A may play different roles in cancer development. Comparison of the methylation levels of SHOX2 and RASSF1A between cancer and cancer-adjacent specimens (n = 30), showed they have “epigenetic field defect”. As additional clinical validation, the hypermethylation of SHOX2 and RASSF1A was detected not only in surgical operative specimens, but also in histopathological negative puncture biopsies. SHOX2 and RASSF1A methylation detection can be used to increase sensitivity and NPV, which provide us with a more accurate method of differential diagnosis and are likely to be rapidly applied in clinical examinations.

【 授权许可】

Unknown