PAX1/SOX1 DNA methylation and cervical neoplasia detection: A Taiwanese Gynecologic Oncology Group (TGOG) study

Hung Cheng Lai, Yu Che Ou, Tze Chien Chen, Huei Jean Huang, Ya Min Cheng, Chi Hau Chen, Tang Yuan Chu, Shih Tien Hsu, Cheng Bin Liu, Yao Ching Hung, Kuo Chang Wen, Mu Hsien Yu, Kung Liahng Wang

Research output: Contribution to journalArticlepeer-review

46 Citations (Scopus)


We aimed to determine whether PAX1/SOX1 methylation could be translated to clinical practice for cervical neoplasia detection when used alone and in combination with current cytology-based Pap screening. We conducted a multicenter case-control study in 11 medical centers in Taiwan from December 2009 to November 2010. Six hundred seventy-six patients were included in the analysis, including 330 in the training set and 346 in the testing set. Multiplex quantitative methylation-specific polymerase chain reaction (PCR) was performed with a TaqMan probe system using a LightCycler 480 Real-Time PCR System (Roche). The level of human papilloma virus (HPV) was analyzed using a Hybrid Capture 2 system (Digene). Receiver operating characteristic curves were generated to obtain the best cutoff values from the training data set. The sensitivities, specificities, and accuracies were validated in the testing set. The sensitivities for methylated (m) PAX1m and SOX1m and HPV testing for detecting CIN3+ lesions were 0.64, 0.71, and 0.89, and the specificities were 0.91, 0.77, and 0.68, respectively. Combined parallel testing of PAX1m/SOX1m tests with Pap smearing showed superior specificity (0.84/0.71 vs. 0.66, respectively) and similar sensitivity (0.93/0.96 vs. 0.97) to the combination of Pap smear results and HPV testing. Thus, combined parallel testing using Pap smears and PAX1 or SOX1 methylation tests may provide better performance than a combination of Pap smears with HPV testing in detection for cervical neoplasia.

Original languageEnglish
Pages (from-to)1062-1074
Number of pages13
JournalCancer Medicine
Issue number4
Publication statusPublished - Aug 2014


  • Cervical cancer screening
  • DNA methylation
  • PAX1
  • SOX1

ASJC Scopus subject areas

  • Oncology
  • Radiology Nuclear Medicine and imaging
  • Cancer Research


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