Rates of Intervention and Cancer Detection on Initial versus Subsequent Whole-body MRI Screening in Li-Fraumeni Syndrome.
Rates of Intervention and Cancer Detection on Initial versus Subsequent Whole-body MRI Screening in Li-Fraumeni Syndrome.
复制标题
Li-Fraumeni 综合征初始与后续全身 MRI 筛查的干预率和癌症检测率。
DOI：
10.1158/1940-6207.capr-23-0011
复制
发表时间：
2023
期刊：
影响因子：
--
通讯作者：
Maxwell,KaraN
中科院分区：
文献类型：
--
作者：
Kagami,LauraAT;Du,YunK;Fernandes,ConradJ;Le,AnhN;Good,Madeline;Duvall,MelaniM;Baldino,SarahE;Powers,Jacquelyn;Zelley,Kristin;States,LisaJ;Mathew,ManojC;Katona,BrysonW;MacFarland,SuzanneP;Maxwell,KaraN
Li-Fraumeni综合征（LFS）是一种遗传性癌症易感综合征，终生癌症风险高达90%。由于已知的生存优势，建议进行癌症筛查，包括每年进行全身MRI（WB-MRI），初次筛查的癌症检出率为7%。后续筛查的干预和癌症检出率尚不清楚。对儿童和成人LFS患者（n= 182）的临床数据进行了审查，包括WB-MRI筛查和基于筛查结果的干预措施。对于每次WB-MRI筛查，分析了包括活检和二次成像在内的干预措施以及癌症诊断率，并将初始与后续WB-MRI进行比较。在总队列（n= 182）中，我们确定了68例成人患者和50例儿童患者，他们至少接受了两次WB-MRI筛查，平均筛查次数为3.8 ± 1.9（成人）和4.0 ± 2.1（儿童）。初步筛查的结果导致38%的成人和20%的儿童接受了影像学或侵入性干预。随访时，成人的总体干预率较低（19%，P = 0.0026），儿童的总体干预率稳定（19%，P = NS）。在初始（儿童：4%，成人：3%）和后续（儿童：10%，成人：6%）筛查中，总共检测到13种癌症（7%的成人和14%的儿童扫描）。WB-MRI筛查后的干预率在首次和后续检查之间的成人中显著下降，在儿科患者中保持稳定。儿童和成人的癌症检出率相似（初始为3%-4%，随后为6%-10%）。这些研究结果提供了重要的数据咨询LFS患者的筛查outcomes.Prevention RelevanceThe癌症检出率，负担的建议干预措施，并在随后的WB-MRI筛查中发现的LFS患者的假阳性结果率没有得到很好的理解。我们的研究结果表明，年度WB-MRI筛查具有临床实用性，可能不会给患者带来不必要的侵入性干预负担。
Li-Fraumeni Syndrome (LFS) is a hereditary cancer predisposition syndrome with up to 90% lifetime cancer risk. Cancer screening, including annual whole-body MRI (WB-MRI), is recommended due to known survival advantage, with cancer detection rate of 7% on initial screening. Intervention and cancer detection rates on subsequent screenings are unknown. Clinical data for pediatric and adult patients with LFS (n= 182) were reviewed, including instances of WB-MRI screening and interventions based on screening results. For each WB-MRI screening, interventions including biopsy and secondary imaging, as well as rate of cancer diagnosis, were analyzed comparing initial versus subsequent WB-MRI. Of the total cohort (n= 182), we identified 68 adult patients and 50 pediatric patients who had undergone at least two WB-MRI screenings, with a mean of 3.8 ± 1.9 (adults) and 4.0 ± 2.1 (pediatric) screenings. Findings on initial screening led to an imaging or invasive intervention in 38% of adults and 20% of children. On follow up, overall intervention rates were lower for adults (19%,P= 0.0026) and stable for children (19%,P= NS). Thirteen cancers were detected overall (7% of adult and 14% of pediatric scans), on both initial (pediatric: 4%, adult: 3%) and subsequent (pediatric: 10%, adult: 6%) screenings. Rates of intervention after WB-MRI screening decreased significantly in adults between first and subsequent exams and remained stable in pediatric patients. Cancer detection rates were similar on screening (3%–4% initial, 6%–10% subsequent) for both children and adults. These findings provide important data for counseling patients with LFS about screening outcomes.Prevention RelevanceThe cancer detection rate, burden of recommended interventions, and rate of false-positive findings found on subsequent WB-MRI screenings in patients with LFS are not well understood. Our findings suggest that annual WB-MRI screening has clinical utility and likely does not result in an unnecessary invasive intervention burden for patients.