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改善儿童固体瘤患者癌症倾向综合征检测的机会

Benjamin Hu¹, Danielle Kirkey¹, Adrienne Wakeling²

¹Department of Pediatrics, Stanford University School of Medicine.

Journal of pediatric hematology/oncology

|June 17, 2024

概括

儿科瘤学提供者收集不够的家族病史,可能缺失的癌症倾向综合征 (CPS). 需要进行干预,以改善家族史文档,以获得更好的遗传咨询转诊.

科学领域:

儿科瘤学儿科瘤学
遗传学是一个遗传学.
癌症倾向症候群癌症倾向症候群

背景情况:

检测癌症倾向综合征 (CPS) 取决于识别瘤类型和家族病史等危险因素.
儿科瘤学提供者 (POPs) 对此检测至关重要,但其家族史收集的充分性是未知的.

研究的目的:

评估儿科瘤学提供者 (POPs) 收集的家族病史信息的充分性.
为了比较POPs的家族史收集与遗传咨询师的表现.
评估记录的家族史是否符合遗传咨询推指南的标准.

主要方法:

儿科固体瘤患者 (<18岁) 的回顾性图表审查,以进行CPS评估.
评估了POP对美国临床瘤学会 (ASCO) 家族史建议的遵守.
根据ACMG,UJ和MIPOGG的指导方针评估了家族史的充分性.

主要成果:

仅在3%的案例中,POPs满足了ASCO家族史指标,而遗传咨询师则达到99%.
在大多数情况下 (74-79%),POPs未能记录足够的家族史来确定转诊标准.

结论:

POPs在收集家族病史方面表现不佳,可能导致错过的CPS转诊.
干预措施是必要的,以改善家族史收集的POPs,以提高CPS检测.

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