改善小儿实体瘤患者癌症易感综合征检测的机会。

IF 0.9 4区 医学 Q4 HEMATOLOGY Journal of Pediatric Hematology/Oncology Pub Date : 2024-08-01 Epub Date: 2024-06-17 DOI:10.1097/MPH.0000000000002897
Benjamin Hu, Danielle Kirkey, Adrienne Wakeling, Molly McGuinness, Sara Kreimer, Jacquelyn Crane, Sheri L Spunt
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引用次数: 0

摘要

背景:癌症易感综合征(CPS)的检测取决于风险因素的识别,包括肿瘤类型、家族史和体格检查结果,以便及时转诊进行遗传咨询/检测。儿科肿瘤医生(POP)是否收集了足够的家族史信息尚不清楚:方法:对单一机构的实体瘤患者进行回顾性病历审查:在 129 例符合条件的病例中,分别有 3% 和 99% 的 POP 和遗传咨询师达到了 ASCO 的全部 6 项家族史指标。在大多数病例(74% ACMG、73% UJ、79% MIPOGG)中,民意调查人员未能记录足够的家族史以满足遗传咨询转介标准:持久性有机污染物在家族史收集方面表现不佳,这引起了人们的担忧,即一些根据家族史有可能患 CPS 的患者可能不会被转诊接受遗传咨询/检测。需要采取干预措施改善家族史收集工作,以提高 CPS 检测率。
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Opportunities for Improving Detection of Cancer Predisposition Syndromes in Pediatric Solid Tumor Patients.

Background: Detection of cancer predisposition syndromes (CPS) depends on identifying risk factors, including tumor type, family history, and physical findings, to prompt referral for genetic counseling/testing. Whether pediatric oncology providers (POPs) collect adequate family history information is unknown.

Methods: A single-institution retrospective chart review of solid tumor patients <18 years of age referred for a CPS evaluation between January 1, 2017 and January 31, 2019 was performed. POP adherence to American Society of Clinical Oncology (ASCO) family history collection recommendations was measured and compared with genetic counselor performance. Whether sufficient family history was documented to satisfy the criteria of three genetic counseling referral guidelines [American College of Medical Genetics (ACMG), updated Jongmans (UJ), and McGill Interactive Pediatric OncoGenetic Guidelines (MIPOGG)] was evaluated.

Results: POPs and genetic counselors achieved all 6 ASCO family history metrics in 3% and 99% of 129 eligible cases, respectively. POPs failed to document sufficient family history to satisfy genetic counseling referral criteria in most cases (74% ACMG, 73% UJ, 79% MIPOGG).

Conclusions: POPs perform poorly in family history collection, raising concern that some patients at risk for a CPS based on their family history may not be referred for genetic counseling/testing. Interventions to improve family history collection are needed to enhance CPS detection.

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来源期刊
CiteScore
1.90
自引率
8.30%
发文量
415
审稿时长
2.5 months
期刊介绍: ​Journal of Pediatric Hematology/Oncology (JPHO) reports on major advances in the diagnosis and treatment of cancer and blood diseases in children. The journal publishes original research, commentaries, historical insights, and clinical and laboratory observations.
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