Department of Pediatric Oncology, Hematology and Transplantology, Poznan University of Medical Sciences, Szpitalna 27/33, 60-572 Poznan, Poland.
Institute of Human Genetics, Polish Academy of Sciences, Strzeszynska Street 32, 60-479 Poznan, Poland.
Genes (Basel). 2024 Aug 29;15(9):1141. doi: 10.3390/genes15091141.
The etiology of pediatric cancers is often unclear; however, advancements in genetics have identified significant roles for genetic disorders in their development. Over time, the number of cancer predisposition syndromes (CPSs) and awareness of them have increased, providing the possibility of cancer prevention and early detection.
In this study, we present data concerning the number and type of oncological cases and their correlation with CPS occurrence in a cohort of Central and Eastern European pediatric patients.
The data were collected between 2000 and 2019 at the Karol Jonscher Clinical Hospital of Poznan University of Medical Sciences, resulting in a cohort of 2190 cases in total, of which 193 children (8.81%) were confirmed to have a CPS.
CPSs occurred most frequently in infancy (22.90% of all children suffering from any diagnosed cancer during the first year of life; < 0.0001), accounting for more than one-quarter of all CPS cases in our cohort. CPSs were least likely to be observed in patients aged 14 and 15 years (2.17% and 2.44% of children diagnosed with any of the listed cancers at the exact age, respectively; < 0.05). Among CPSs, the most common were neurofibromatosis type I (NF1), Li-Fraumeni syndrome (LFS), and Down syndrome (DS).
To conclude, it is important to emphasize the need for personalized treatment for each patient affected by both CPSs and subsequent cancer in order to reduce the toxicity of therapy and improve quality of life by reducing the risk of side effects.
儿科癌症的病因通常不明确；然而，遗传学的进步已经确定了遗传疾病在其发展中的重要作用。随着时间的推移，癌症易感性综合征（CPS）的数量及其认识不断增加，为癌症预防和早期发现提供了可能。
本研究介绍了中欧和东欧儿科患者队列中肿瘤病例的数量和类型及其与 CPS 发生的相关性的数据。
该数据于 2000 年至 2019 年在波兹南医科大学卡罗尔·琼舍尔临床医院收集，共纳入 2190 例病例，其中 193 例（8.81%）患儿被确诊为 CPS。
CPS 最常发生在婴儿期（<0.0001），占所有儿童癌症患者的 22.90%，占所有 CPS 患者的四分之一以上。在 14 岁和 15 岁的患者中，CPS 最少见（分别占该年龄组所有列出癌症患者的 2.17%和 2.44%；<0.05）。在 CPS 中，最常见的是神经纤维瘤病 1 型（NF1）、李-佛美尼综合征（LFS）和唐氏综合征（DS）。
总之，重要的是要强调需要为每个受 CPS 和随后癌症影响的患者提供个性化治疗，以降低治疗毒性并通过降低副作用风险提高生活质量。
