Raimondo Diego, Raffone Antonio, Neola Daniele, Genovese Federica, Travaglino Antonio, Aguzzi Alberto, De Gobbi Valeria, Virgilio Agnese, Di Santo Sara, Vicenti Rossella, Magnani Valentina, Guida Maurizio, Pippucci Tommaso, Seracchioli Renato
Division of Gynecology and Human Reproduction Physiopathology, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, Italy.
Department of Woman, Child, and General and Specialized Surgery, University of Campania "Luigi Vanvitelli", 80138 Naples, Italy.
Cancers (Basel). 2024 Aug 8;16(16):2793. doi: 10.3390/cancers16162793.
: Recent advances in cancer diagnosis and treatment have significantly improved survival rates among women of reproductive age facing cancer. However, the potential iatrogenic loss of fertility caused by chemotherapeutic agents underscores the need to understand and predict chemotherapy-induced ovarian damage. This study addresses this gap by systematically reviewing the literature to investigate genetic markers associated with chemotherapy-induced ovarian failure (CIOF). : The primary objective is to identify genetic markers linked to CIOF, contributing to a comprehensive understanding of the factors influencing fertility preservation in female cancer survivors. : A systematic review was conducted using PubMed, EMBASE, Web of Science, Scopus, and OVID electronic databases from inception through December 2023. Studies were included if they featured genomic assessments of genes or polymorphisms related to CIOF in women with histologically confirmed tumors. Exclusion criteria comprised in vitro and animal studies, reviews, and pilot studies. The resulting four human-based studies were scrutinized for insights into genetic influences on CIOF. : Of the 5179 articles initially identified, four studies met the inclusion criteria, focusing on alkylating agents, particularly cyclophosphamide, and anthracyclines. Su et al. explored variants, revealing modified associations with CIOF based on age. Charo et al. investigated and polymorphisms, emphasizing the need to consider age and tamoxifen therapy in assessing associations. Oktay et al. delved into the impact of BRCA mutations on anti-Müllerian hormone (AMH) levels post-chemotherapy, supported by in vitro assays. Van der Perk et al. focused on childhood cancer survivors and revealed significant associations of and SNPs with AMH levels. : This systematic review analyzes evidence regarding genetic markers influencing CIOF, emphasizing the complex interplay of age, specific genetic variants, and chemotherapy regimens. The findings underscore the need for a personalized approach in assessing CIOF risk, integrating genetic markers with traditional ovarian reserve testing. The implications of this study extend to potential advancements in fertility preservation strategies, offering clinicians a comprehensive baseline assessment for tailored interventions based on each patient's unique genetic profile. Further research is essential to validate these findings and establish a robust framework for integrating genetic markers into clinical practice.
癌症诊断和治疗方面的最新进展显著提高了育龄期患癌女性的生存率。然而，化疗药物导致的潜在医源性生育力丧失凸显了了解和预测化疗引起的卵巢损伤的必要性。本研究通过系统回顾文献来调查与化疗诱导的卵巢功能衰竭（CIOF）相关的遗传标记，以填补这一空白。：主要目标是识别与CIOF相关的遗传标记，有助于全面了解影响女性癌症幸存者生育力保存的因素。：使用PubMed、EMBASE、Web of Science、Scopus和OVID电子数据库进行了一项系统回顾，时间跨度从数据库创建到2023年12月。如果研究对组织学确诊肿瘤的女性中与CIOF相关的基因或多态性进行了基因组评估，则纳入研究。排除标准包括体外研究、动物研究、综述和试点研究。对由此产生的四项基于人类的研究进行了审查，以深入了解遗传因素对CIOF的影响。：在最初识别的5179篇文章中，有四项研究符合纳入标准，重点关注烷化剂，特别是环磷酰胺和蒽环类药物。Su等人探索了变体，揭示了基于年龄与CIOF的修正关联。Charo等人研究了和多态性，强调在评估关联时需要考虑年龄和他莫昔芬治疗。Oktay等人深入研究了BRCA突变对化疗后抗苗勒管激素（AMH）水平的影响，并得到了体外试验的支持。Van der Perk等人关注儿童癌症幸存者，发现和单核苷酸多态性与AMH水平存在显著关联。：本系统回顾分析了有关影响CIOF的遗传标记的证据，强调了年龄、特定遗传变体和化疗方案之间复杂的相互作用。研究结果强调了在评估CIOF风险时采用个性化方法的必要性，将遗传标记与传统的卵巢储备测试相结合。本研究的意义延伸到生育力保存策略的潜在进展，为临床医生提供了一个全面的基线评估，以便根据每个患者独特的基因特征进行量身定制的干预。进一步的研究对于验证这些发现并建立一个将遗传标记整合到临床实践中的强大框架至关重要。
