Methods for the detection of cervical cancer and cervical intraepithelial neoplasia

Inventors

ZHENG, ZHI-MINGXU, JUNFENZhu, JunYANG, YANQINWang, Xiaohong

Assignees

US Department of Health and Human Services

Publication Number

US-11905564-B2

Publication Date

2024-02-20

Expiration Date

2036-09-20

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Abstract

Described herein are biomarkers for HPV-associated pre-cancers and cancers such as cervical cancer and cervical intraepithelial neoplasia. The RNA binding protein (RBP) and long-noncoding RNA (lnc-RNA) biomarkers can be detected and used to diagnose HPV-associated pre-cancers and cancers. In addition, early diagnosis of HPV-associated pre-cancers and cancers can facilitate therapeutic intervention in patients, particularly in the pre-cancer stage which can delay or prevent progression to cancer.

Core Innovation

Described herein are biomarkers for human papillomavirus (HPV)-associated pre-cancers and cancers such as cervical cancer and cervical intraepithelial neoplasia. The invention involves detection of RNA binding protein (RBP) and long non-coding RNA (lnc-RNA) biomarkers to diagnose HPV-associated pre-cancers and cancers. Early diagnosis of HPV-associated pre-cancers and cancers enables therapeutic intervention particularly in the pre-cancer stage, potentially delaying or preventing cancer progression.

High-risk HPV persistent infection leads to cervical cancer and other cancers. HPV16 and HPV18 are particularly linked to invasive cervical cancer, which is the second most common cancer among women worldwide, with high incidence and mortality, especially in developing countries. There is a need for diagnostic markers for early detection of high-risk HPV infection, HPV-associated pre-cancer, and HPV-associated cancer, which can be used to develop intervention strategies.

The invention provides methods for determining cervical intraepithelial neoplasia stages or cervical cancer by measuring expression levels of specific polynucleotide biomarkers including lnc-FANCI-2, lnc-GLB1L2-1, GRB7, NOVA1, RNASEH2A, CDKN2A, ELAVL2, HSPB1, KHSRP, PTBP1, or combinations thereof, by hybridization assays. The expression levels of these biomarkers in patient samples containing cervical cells are correlated to reference expression levels from control or diseased samples to diagnose disease stage. The altered expression of these RBPs and lnc-RNAs is associated with cervical lesion progression, and some are regulated by HPV infection and viral proteins E6 and E7. The methods also extend to treating patients by administering therapeutic interventions based on these biomarker expression determinations.

Claims Coverage

The claims disclose methods related to quantitation and diagnosis of cervical cancer and cervical intraepithelial neoplasia using specific polynucleotide biomarkers, with a focus on lnc-FANCI-2, and associated diagnostic steps.

Quantitating expression level of lnc-FANCI-2 polynucleotide

A method comprising contacting a sample of cervical cells from a test patient with one or more polynucleotides that hybridize to the lnc-FANCI-2 polynucleotide, detecting hybridization level, comparing this level to a control level from normal cervical tissues, and determining differential expression when the hybridization level is at least about 150% of control, using specific SEQ ID NOs: 78, 79, and 80.

Diagnosing cervical neoplasia or HPV-associated cancers based on lnc-FANCI-2 expression

A method of determining whether a test patient has stage 1, 2, or 3 cervical intraepithelial neoplasia, cervical cancer, HPV-associated pre-cancer, or HPV-associated cancer by contacting a cervical cell sample with polynucleotides hybridizing to lnc-FANCI-2, determining the expression level via hybridization, correlating to reference expression levels from control patients with various disease states, and making a diagnostic determination based on this correlation.

These claims focus on the use of lnc-FANCI-2 polynucleotide hybridization assays for quantitation and diagnosis of cervical cancer, cervical intraepithelial neoplasia, and HPV-associated pre-cancer and cancers by comparing patient sample expression to reference controls, establishing differential expression thresholds.

Stated Advantages

Early diagnosis of HPV-associated pre-cancers and cancers allows therapeutic intervention at the pre-cancer stage, potentially delaying or preventing progression to cancer.

The ability to detect altered expression levels of specific RBP and lnc-RNA biomarkers facilitates improved diagnosis and treatment of cervical cancer and pre-cancerous lesions.

Using minor surgical or therapeutic interventions at early stages such as CIN 1 can effectively prevent progression to cervical cancer.

The identified biomarker expression profiles provide the first comprehensive expression atlas of RBPs and lnc-RNAs in normal cervix and cervical cancer, enhancing diagnostic specificity.

Documented Applications

Diagnosis of HPV-associated pre-cancers and cancers such as cervical intraepithelial neoplasia stages 1, 2, and 3, and cervical cancer.

Early diagnosis and monitoring of disease progression from normal cervix through pre-cancer stages to cervical cancer.

Therapeutic intervention and treatment stratification for patients diagnosed with HPV-associated pre-cancer or cancer.

Use of PAP smear, vaginal wash, or cervical biopsy samples for detection of biomarker expression.

Screening of patients at high risk for HPV infection or cervical cancer, including immunosuppressed patients and those with abnormal PAP tests.

Use in clinical settings for classification and stratification of cervical disease severity via correlation of biomarker expression to reference samples.

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