Chin J Lab Med · 2024;47(4) · Self-Sampling Study · China

Self-Sampling PAX1/JAM3 Methylation for Cervical Cancer Screening

女性阴道自采样本检测 PAX1/JAM3 双基因甲基化标志物作为子宫颈癌筛查的可行性评估
272 women · self vs clinician sampling highly consistent (r 0.858/0.828, κ 0.90) · CIN2+ Se 77.6% / Sp 87.2% · CIN3+ Se 96.0% combined
Yu F, Ma J, Zhou X, Li G, Peng J, Li P, Zeng F, Xie X, Dong W
中华检验医学杂志 · 2024;47(4):419–427
0.858
r · PAX1 self vs clinician
0.828
r · JAM3
κ 0.90
overall agreement
77.6%
Se · CIN2+ (self)
96.0%
Se · CIN3+ combined

1Background & Objective

  • Access: self-sampling removes barriers (privacy, distance) — key for screening coverage.
  • Validate: is vaginal self-sample PAX1/JAM3 methylation as accurate as clinician sampling?

2Study Design & Cohort

272
women analyzed
81
consistency group
191
clinical group
  • Design: single-center cross-sectional, colposcopy clinic, Jan–Nov 2023.
  • Paired samples: vaginal self-swab + clinician sampling, same qPCR methylation.
  • Reference: histopathology; Spearman, Kappa, Bland-Altman.
  • Histology: normal/cervicitis 37.5% · CIN1 26.4% · CIN2 15.8% · CIN3 10.7% · cancer 9.6%.
102
normal / cervicitis
72
CIN1
43
CIN2
29
CIN3
26
cancer
Normal
CIN1
CIN2
CIN3
Cancer
  • Inclusion: colposcopy-referred women with both self & clinician samples.
  • Assay: CISCER® PAX1/JAM3 kit (PCR-fluorescence); SLAN-96S.
  • Statistics: Spearman, Kappa, Bland-Altman, ROC/AUC, logistic.
  • Stratification: pre- vs post-menopausal performance.
  • Consistency arm: 81 paired samples (41 <CIN2 + 40 CIN2+).
  • Clinical arm: 191 women for performance vs HPV & cytology.
  • Sample size: RMLE-based non-inferiority, ≥34 CIN2+.
  • Compare: self-sample methylation vs HPV & LBC and combinations.
  • Ethics: institutional approval; informed consent.
Menopausal stratification also analyzed for self-sample performance.

3Sampling Consistency

PAX1 · self vs clinician
r=0.858
JAM3 · self vs clinician
r=0.828
0.90
Kappa · all
0.84
Kappa · CIN2+
0.72
Kappa · <CIN2
  • Agreement: Bland-Altman confirms good concordance; P all >0.05.
  • No bias: self vs clinician Se 77.5% vs 82.5% · Sp 92.7% vs 87.8% — no significant difference.

4Methylation Signal by Grade

ΔCP distribution by lesion grade in self-samples
Fig. Self-sample ΔCP by grade — CIN2+ significantly different from normal (P<0.05).
050%100% CIN3+ sensitivity — self-sample Methylation + HPV16/18 hrHPV Cytology (LBC) 96.0% 92.0% 82.6% data: clinical arm, CIN3+ · combination best
Fig. CIN3+ sensitivity — methylation combination 96.0% best.

5Clinical Performance

77.6%
Se · CIN2+
87.2%
Sp · CIN2+
89.9%
NPV · CIN2+
96.0%
Se · CIN3+ (combo)
  • Combined: methylation + HPV16/18 → Se 89.7% (CIN2+) / 96.0% (CIN3+) — beats hrHPV 92.0% & cytology 82.6%.
  • Specificity & PPV: methylation alone/combined higher than hrHPV, HPV16/18 & cytology (P<0.005).
  • Feasible: home self-swab — expands screening access & compliance.
Clinical Significance