Germline Mutations
Conditions
Brief summary
Ovarian cancer is the leading cause of death among gynecological malignancies. No screening test is available for this tumor. Serous Tubal Intraepithelial Carcinoma (STIC) is the precursor lesion of the high grade serous ovarian cancer (HGSOC). Preliminary data suggest that tumor cells from STIC shed into the luminal space to reach the cervix and identical molecular alterations can be identified in the STIC and pap smears taken several years before the diagnosis. Early diagnosis could be achieved by detecting tumor components in cervical smears. This prospective/retrospective project plans to enroll high risk, germline mutated women submitted to risk reducing annessiectomy to compare the concordance of molecular alterations between tubal specimens and DNA from Pap test in order to validate a possible screening test with potential impact in reducing cancer mortality. Moreover, the evaluation of the influence of tumor micro environment in the progression from STIC to HGSOC will be studied.
Interventions
PROCEDURERRSO (risk-reducing salpingo- oophorectomy) or RRS (risk-reducing salpingectomy)
Patients with germline mutations underwent RRSO (risk-reducing salpingo- oophorectomy) or RRS (risk-reducing salpingectomy)
Sponsors
Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
DIAGNOSTIC
Masking
NONE
Eligibility
Sex/Gender
FEMALE
Age
18 Years to No maximum
Healthy volunteers
Yes
Inclusion criteria
* Patients with germline mutations candidate to prophylactic surgery RRSO (risk-reducing salpingo- oophorectomy) or RRS (risk-reducing salpingectomy) * Able and willing to sign informed consent
Exclusion criteria
* Germline mutated patients unwilling to join the trial and non-compliant with trial procedures
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| NGS-Based Detection of Tubal Precancerous Lesions Using Pap Test DNA | 1 year | To assess the concordance between the evidence of precancerous/cancerous tubal lesions and the results of NGS analysis in pDNA derived from Pap test smears longitudinally collected before prophylactic surgery. This aim would assess whether large genomic aberrations in pDNA are a predictive biomarker for the presence of STIC or tubal precancerous lesions and could be used for early detection of HGSOC. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Tumor Microenvironment in STIC-to-HGSOC Progression | 1 year | To define the role of tumor microenvironment (TME) in patho-oncogenic process of the neoplastic transformations from STIC to HGSOC. |
Countries
Italy
Contacts
CONTACTNERO CAMILLA, MD
Outcome results
None listed