Not yet recruiting NCT06501417

EC_ItaLynch: Mainstreaming the Diagnosis of Lynch Syndrome

— Observational Lynch Syndrome Endometrial Cancer

For patients and families

In plain language

An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.

What is being studied: The protocol lists: mainstreaming.
Who it may be relevant to: Registry conditions: Lynch Syndrome, Endometrial Cancer. Basic parameters: from 18 years · Female.
What needs checking: Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
Where it takes place: Italy
Next step: Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →

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Official title

EC_ItaLynch: Incorporating Lynch Syndrome Genetic Testing in Standard Medical Care of Patients With Endometrial Cancer (Mainstreaming)

Overview

Lynch syndrome (LS) is the most common cause of hereditary endometrial cancer (EC) and is associated with an increased risk of colorectal (CRC), ovarian, gastric, small bowel and urinary tract cancer. LS is determined by germline pathogenic variants in the DNA mismatch repair (MMR) genes (MLH1, MSH2, MSH6, PMS2) or in EPCAM. Approximately 20-30% of ECs exhibit somatic MMR deficiency (dMMR), and among these patients approximately 10-30% are affected by LS. This estimate suggests that the prevalence of LS among all EC patients is roughly 3-5%. Prior to the introduction of Universal Screening, the diagnostic management of LS was mainly based on Selective Screening, which included clinical criteria based on the evaluation of family and personal history and the clinicopathological features of the tumor (Amsterdam criteria 1990, Bethesda criteria 1997). However, these have been limited in their application to clinical practice due to their complexity and the frequent lack of complete family history data. Therefore, Universal Screening for LS diagnosis by the identification of dMMR in the tumor tissue of all newly diagnosed CRC and EC cases has recently been proposed. Universal Screening for LS in tumor tissue includes an immunohistochemistry based (IHC) test to assess loss of MMR protein expression or a polymerase chain reaction (PCR) test for microsatellite instability. In the traditional diagnostic pathway for LS, genetic counseling and testing are always recommended for EC patients who are found to have loss of expression of any of the proteins encoded by the MSH2, MSH6, or PMS2. In case of MLH1 loss, genetic counseling and genetic testing are recommended for patients without hypermethylation of the MLH1 promoter. Recent findings suggest that incorporating genetic testing in an oncologist-driven diagnostic algorithm (mainstreaming of genetic testing) could enable increased diagnostic rates, offering the benefits of precision medicine and a streamlined pathway of care to patients and their families. The study consists of two parts: 1. In the first part the aim of the current study is to compare the knowledge, experience and understanding of genetic testing among patients pursuing genetic testing using mainstreaming or standard genetic counseling through modified Modified Royal Marsden Patient Satisfaction Questionnaire. 2. If the first aim will be achieved, a second part will be conducted, to evaluate the feasibility of the mainstreaming diagnostic pathway for LS.

Interventions

Other mainstreaming
mainstreaming in EC patients

Primary outcome measures

Patients satisfaction [Time frame: 1 year]
LS diagnosis [Time frame: 3 years]

Eligibility criteria

Inclusion criteria

Histologically confirmed diagnosis of stage I-IV EC with dMMR
Only for part I presence of Lynch alert.
Signed Informed consent to participate in the study.
d. Patient must be ≥18 years

Exclusion criteria

Histologically confirmed diagnosis of stage I-IV EC with pMMR.
Significant psychiatric or clinical impairment compromising consent to the study.

Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.

Healthy volunteers: No

Study design

Observational model: Cohort

Study locations

Italy · 1 center

Fondazione Policlinico Universitario A. Gemelli IRCCS — Roma

Identifiers

NCT: NCT06501417 · 6511

Primary sources (government registries)

ClinicalTrials.gov (US NIH)

View this study on ClinicalTrials.gov ↗