An observational study in Breast Cancer and Hodgkin Lymphoma, sponsored by IRCCS Azienda Ospedaliero-Universitaria di Bologna. Recruiting at 1 site in Italy. Open to female participants aged 18 Years to 38 Years. Per ClinicalTrials.gov, last updated 2025-12-08.
Sponsored by IRCCS Azienda Ospedaliero-Universitaria di Bologna · Observational
Italian Cancer Registry data show a steady increase in the number of cancer survivors due to advances in treatment. However, these treatments can impair ovarian function, causing premature ovarian insufficiency (POI). Women with POI may experience vasomotor symptoms, infertility, psychological distress, and a significant reduction in quality of life. POI typically occurs before age 40 and is characterized by irregular menstruation and biochemical alterations (elevated gonadotropins and low estradiol). Chronic estrogen deficiency in POI is associated with increased risks of cardiovascular disease, cognitive decline, osteoporosis, psychological issues, and reproductive dysfunction.
Preliminary studies suggest that chemotherapy-induced POI results from genetic changes in ovarian tissue, indicating a crucial role of genetic variations in individual susceptibility. Incidence rates of POI vary widely: about 38% after Hodgkin lymphoma and between 15% and 94% after breast cancer. Currently, there is no personalized pre-treatment risk assessment, complicating informed decision-making regarding ovarian function and fertility.
Fertility preservation options include ovarian tissue and oocyte cryopreservation. This study aims to compare the mutational status of DNA repair genes in ovarian tissue fragments from women who underwent ovarian cryopreservation and completed chemotherapy for lymphoma or breast cancer, categorized into those who developed POI and those who did not. Additionally, the mutational load of these genes will be compared between groups.
The study includes patients aged 18-38 who preserved ovarian tissue before gonadotoxic therapy between 2002 and 2024 at the IRCCS Azienda Ospedaliero-Universitaria di Bologna, Policlinico di S. Orsola. Two groups will be analyzed:
Group 1: Patients who developed POI after gonadotoxic treatment
Group 2: Patients who did not develop POI
Group assignment will be based on clinical and anamnesis data. Cryopreserved ovarian tissue from all participants will undergo advanced molecular analyses by Next Generation Sequencing (NGS) to assess germline and somatic mutational status and load. The genetic variant analysis, conducted in collaboration with the Computational Genomics Unit of IRCCS AOUBO, will focus on a panel of 26 DNA repair genes. Bioinformatic analysis will be performed using the Ion Reporter platform, with clinically relevant variants validated by orthogonal methods.
The study plans to enroll approximately 50 patients, 25 per group.
12,544 studies on the registry are indexed under Breast Neoplasms; 2,892 are open to participants now.
This study's planned enrollment of 50 is below the median of 184 across 2,642 observational studies indexed under Breast Neoplasms.
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Reproductive-age patients undergoing chemotherapy treatment for breast cancer or lymphoma, following ovarian biopsy and ovarian tissue cryopreservation at the Cryobank Laboratory for Ovarian Tissue Cryopreservation and Cell Cultures of the Unit of Gynecology and Human Reproductive Pathophysiology, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Policlinico di S. Orsola
Exclusion Criteria:
To compare the mutational status of genes involved in DNA repair mechanisms in ovarian tissue fragments from women who underwent ovarian cryopreservation and completed chemotherapy treatment for lymphoma or breast cancer
Onset of POI (Premature Ovarian Insufficiency)
Time frame: At least 6 months after the end of chemotherapy
To compare the mutational load of altered genes between women who developed POI and those who did not after undergoing chemotherapy
Onset of POI
Time frame: At least 6 months after the end of chemotherapy
Plan to share: No
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IRCCS Azienda Ospedaliero-Universitaria di Bologna