Rossini Linda, Durante Caterina, Bresolin Silvia, Opocher Enrico, Marzollo Antonio, Biffi Alessandra
Pediatric Hematology, Oncology and Stem Cell Transplant Division, Padua University Hospital, Via Giustiniani 3, 35128 Padua, Italy.
Maternal and Child Health Department, Padua University, Via Giustiniani, 3, 35128 Padua, Italy.
Cancers (Basel). 2022 Jul 31;14(15):3741. doi: 10.3390/cancers14153741.
In the past recent years, the expanding use of next-generation sequencing has led to the discovery of new cancer predisposition syndromes (CPSs), which are now known to be responsible for up to 10% of childhood cancers. As knowledge in the field is in constant evolution, except for a few "classic" CPSs, there is no consensus about when and how to perform germline genetic diagnostic studies in cancer-bearing children. Several clinical screening tools have been proposed to help identify the patients who carry higher risk, with heterogeneous strategies and results. After introducing the main clinical and molecular features of several CPSs predisposing to solid and hematological malignancies, we compare the available clinical evidence on CPS prevalence in pediatric cancer patients and on the most used decision-support tools in identifying the patients who could benefit from genetic counseling and/or direct genetic testing. This analysis highlighted that a personalized stepwise approach employing clinical screening tools followed by sequencing in high-risk patients might be a reasonable and cost-effective strategy in the care of children with cancer.
在过去几年中，新一代测序技术的广泛应用促使了新的癌症易感综合征（CPSs）的发现，目前已知这些综合征导致了高达10%的儿童癌症。由于该领域的知识不断发展，除了少数“经典”的CPSs外，对于何时以及如何对患癌儿童进行种系基因诊断研究尚无共识。已经提出了几种临床筛查工具来帮助识别高风险患者，但策略和结果各不相同。在介绍了几种易患实体和血液系统恶性肿瘤的CPSs的主要临床和分子特征后，我们比较了关于儿科癌症患者中CPSs患病率以及在识别可能从遗传咨询和/或直接基因检测中受益的患者时最常用的决策支持工具的现有临床证据。该分析强调，采用临床筛查工具然后对高风险患者进行测序的个性化逐步方法可能是照顾癌症儿童的一种合理且具有成本效益的策略。
