Clin Epigenetics · 2024 · HPV16/18 Triage Study · China

PAX1/JAM3 Methylation for Triage of HPV16/18-Positive Women

PAX1/JAM3 甲基化在 HPV16/18 阳性女性中的分诊价值
334 HPV16/18+ women · CISCER triage: Se 89.0%, Sp 95.3%, AUC 0.921 · ~70% fewer colposcopy referrals · all cancers detected
Fei J, Zhai L, Wang J, Zhu X, Liu P, Wang L, Ma D, Li L, Zhou J
Second Affiliated Hospital, Zhejiang University School of Medicine · CISCER® PAX1/JAM3 · doi: 10.1186/s13148-024-01804-w
Current practice · HPV16/18+
100% → colposcopy
All HPV16/18+ women referred directly — most have no high-grade lesion → over-referral, anxiety, overtreatment.
CISCER triage · methylation
29.9% → colposcopy
Se 89.0% · Sp 95.3% · AUC 0.921 · 1.12 referrals per CIN2+ detected — no cancer missed.

1Background & Objective

  • Problem: HPV16/18 cause ~70% of cervical cancer, but most infections are transient — immediate colposcopy for all causes over-referral.
  • Triage gap: cytology-based triage inaccurate in this group; WHO suggests emerging triage technologies.
  • Objective: evaluate CISCER® PAX1/JAM3 methylation for triaging HPV16/18+ women.

2Study Design & Cohort

334
HPV16/18+ women
36y
median age
100
CISCER(+)
HPV16/18 genotyping+ CISCER methylation+ colposcopy + cytology
  • Setting: Zhejiang Univ. 2nd Hospital, Nov 2021 – Dec 2022; HPV16 245 · HPV18 77 · both 12.
  • Histology: normal 169 · CIN1 65 · CIN2 47 · CIN3 32 · cancer 21.
  • Compare: CISCER vs cytology vs combination for triage (CIN2+).
  • Genotypes: HPV16 245 (73.4%) · HPV18 77 (23.0%) · both 12 (3.6%).
50.6%
Normal
19.5%
CIN1
14.1%
CIN2
9.6%
CIN3
6.3%
Cancer
78.7%
CIN2 · ≥1 marker +
96.9%
CIN3 · ≥1 marker +
100%
Cancer · CISCER +
169
normal
65
CIN1
100
CIN2+
CIN2+ prevalence: HPV16 34.6% vs HPV18 16.9% (P=0.005).

3Diagnostic Performance — CIN2+

89.0%
Sensitivity
95.3%
Specificity
0.921
AUC (0.877–0.966)
164.0
OR (68.6–391.9)
TestSe %Sp %
CISCER89.095.3
PAX1m75.096.6
JAM3m72.097.0
Cytology ≥ASC-US
CIN3+: CISCER Se 98.1%, Sp 82.9%, AUC 0.905, OR 252.4.

4Methylation Signal & Se/Sp

PAX1/JAM3 methylation by cervical lesion grade
Fig. 2 Methylation rises with grade — CIN3: 96.9% ≥1 marker positive; cancer 100%.
0%25%50%75%100% SensitivitySpecificity CISCERPAX1JAM3CISCERPAX1JAM3 89757295.396.697
Fig. Se vs Sp by test (Table 2) — CISCER best balance; single genes highest Sp.

5Referral & Cancer Safety

89.0%
CIN2+ risk if CISCER(+)
vs cytology ≥ASC-US 38.3% — 2.3× higher
1.12
Referrals per CIN2+ detected
~70% fewer colposcopies vs direct referral
  • Cancer safety: 21/21 cancers · 96.9% CIN3 · 78.8% CIN2 detected; ≥30 y: no CIN3+ missed.
CISCER+cytology raises referrals to 2.31/CIN2+ — no added triage value.
Clinical Significance