Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Division of Hematology-Oncology, Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
Cancer Prev Res (Phila). 2023 Sep 1;16(9):507-512. doi: 10.1158/1940-6207.CAPR-23-0011.
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.
The 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.
Li-Fraumeni 综合征（LFS）是一种遗传性癌症易感性综合征，终生癌症风险高达 90%。由于已知生存优势，建议进行癌症筛查，包括每年进行全身 MRI（WB-MRI）筛查，初始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 182 例 LFS 儿科和成人患者的临床数据进行了回顾性分析，包括基于筛查结果的 WB-MRI 筛查和干预情况。对每一次 WB-MRI 筛查，分析了包括活检和二次影像学检查在内的干预措施，以及比较初始和后续 WB-MRI 筛查的癌症诊断率。在总队列（n=182）中，我们确定了 68 例成年患者和 50 例儿科患者至少进行了两次 WB-MRI 筛查，成人平均进行了 3.8±1.9 次筛查，儿科平均进行了 4.0±2.1 次筛查。初始筛查结果导致 38%的成年患者和 20%的儿童患者进行了影像学或有创干预。在随访中，成人的总体干预率较低（19%，P=0.0026），儿童的干预率稳定（19%，P=NS）。总共检测到 13 例癌症（成人扫描的 7%，儿科扫描的 14%），包括初始（儿科：4%，成人：3%）和后续（儿科：10%，成人：6%）筛查。在成人中，WB-MRI 筛查后的干预率在首次和后续检查之间显著下降，而在儿科患者中则保持稳定。在筛查中（初始筛查为 3%-4%，后续筛查为 6%-10%），儿童和成人的癌症检出率相似。这些发现为 LFS 患者的筛查结果提供了重要数据。
LFS 患者后续 WB-MRI 筛查的癌症检出率、推荐干预措施的负担以及假阳性发现率尚不清楚。我们的研究结果表明，每年进行 WB-MRI 筛查具有临床意义，并且不太可能对患者造成不必要的有创干预负担。
