Int J Obstet Gynecol · 2026;53(3) · Review · China

PAX1/JAM3 Dual-Gene Methylation in Cervical Lesion Management

PAX1/JAM3 双基因联合甲基化检测在宫颈病变管理中的研究进展
Review · dual-gene quantitative methylation: screening → hrHPV+ triage → cytology-abnormal triage → CIN2+ & post-op management
He Q, Huang Z, Wang Y, An Y, Feng S (correspondence)
Northwest Minzu University · 940th Hospital · 国际妇产科学杂志 · doi: 10.12280/gjfckx.20251474
Positive readout (dual-gene)
ΔCt PAX1 ≤ 6.6  or  ΔCt JAM3 ≤ 10.0
0.872
AUC · CIN3+ (vs TCT 0.580)
74.1%
Se · CIN2+
95.9%
Sp · CIN2+
0.932
AUC · PAX1+HPV+TCT

1Dual-Gene Biology & Advantage

PAX1
squamous-sensitive · early marker
JAM3
adenocarcinoma-sensitive · aggressive phenotype
  • Complementarity: PAX1 early & squamous; JAM3 aggressive & adenocarcinoma — joint detection boosts high-grade lesion detection.
  • Quantitative: ΔCt-based, objective reflection of epigenetic disorder — risk, type & stage assessment.

2Assay Workflow & QC

Step 1
Sample: cervical brush / self-swab
Step 2
DNA + bisulfite conversion
Step 3
qPCR (PAX1 / JAM3)
Step 4
ΔCt readout & report
  • Self-sampling: home vaginal swab feasible — improves compliance & access.
  • Alternative: MSRE-qPCR panel (JAM3/PCDHGB7/SORCS1; PAX1/ZNF671/ASCL1) — no bisulfite, higher DNA recovery.
  • QC standard: 2025 five-society expert consensus — first national clinical standard for cervical DNA methylation.
  • Sample: cervical exfoliated cells — same brush & media as TCT/HPV, easy integration.
  • Readout rule: ΔCt PAX1 ≤ 6.6 or ΔCt JAM3 ≤ 10.0 → positive; lower ΔCt = higher methylation.
  • Clinical value: independent triage OR combined with HPV/TCT for screening.
74.1%
Se · CIN2+
95.9%
Sp · CIN2+
0.932
AUC combined
ItemStandard
PositiveΔCt PAX1 ≤ 6.6 or ΔCt JAM3 ≤ 10.0
Samplecervical exfoliated cells (brush / self-swab)
Methodbisulfite + qPCR; MSRE-qPCR alternative
ΔCt
quantitative readout
2025
expert consensus
NMPA
approved kit context
First national clinical standard for cervical DNA methylation (2025 expert consensus) — standardized lab workflow & reporting.

3Full-Pathway Clinical Management

1
Screening
AUC 0.872 (CIN3+) vs TCT 0.580 / HPV 0.503 · CIN2+ Se 74.1% / Sp 95.9% · independent or combined (ΔCtPAX1+HPV+TCT AUC 0.932).
2
hrHPV+ triage
HPV16/18+ (n=334): Se 89.0% / Sp 95.3%, AUC 0.921 · referrals cut ~70% (1.12 per CIN2+) · 14-y cumulative cancer risk 1.7% if methylation-negative.
3
Cytology-abnormal triage
ASC-US (n=322): Se 83.8% / Sp 95.8%, referrals −79.5% · mildly abnormal: CIN3+ Se 74.9% / Sp 89.1% · CIN3+ risk 40.5% (+) vs 2.7% (−).
4
CIN2+ & post-op
ΔCt PAX1 < 4.34 → low short-term progression, may defer conization · post-op: 6-mo methylation(+) → 30.8% CIN2/3 recurrence vs <4% (−).
SettingSe %Sp %AUCImpact
Screening (CIN2+)74.195.90.872beats TCT/HPV
HPV16/18+ (n=334)89.095.30.921referrals −70%
ASC-US (n=322)83.895.8referrals −79.5%
Mildly abnormal74.989.1risk 40.5% vs 2.7%
−70%
HPV16/18 referrals
1.12
referrals per CIN2+
30.8%
post-op recurrence if (+)
<4%
if (−)
Model (Sun, n=276 HSIL)AUC
ΔCt PAX1 + HPV + TCT0.932
ΔCt JAM3 + HPV + TCT0.926
ΔCt PAX1 / ΔCt JAM30.867 / 0.841
HPV / TCT alone0.791 / 0.784
0.932
ΔCtPAX1+HPV+TCT
0.926
ΔCtJAM3+HPV+TCT
0.867
ΔCtPAX1 alone
0.841
ΔCtJAM3 alone
Methylation complements HPV & cytology — reducing over-treatment while preserving cancer detection.
Clinical Significance