Comprehensive annual screening reduces cancer-related mortality in Li-Fraumeni syndrome (LFS), a cancer-prone disorder caused by pathogenic germline TP53 variants. Blood tests at months 4 and 8 between annual screening are recommended but their effectiveness in early cancer detection has not been established. Interim blood counts and inflammatory biomarkers were evaluated in 132 individuals with LFS (112 adults, 87 female, median age 36 years [range 3–68], median follow-up 37 months [range 2–70]) and test abnormalities were observed in 225 (35%). Thirteen cancers in 12 individuals were diagnosed between annual screenings but only one cancer (colorectal adenocarcinoma) was diagnosed due to an abnormal interim blood test. Fisher’s exact test and generalized estimating equation models found no statistical associations between cancer diagnoses and any test abnormality. Four- and 8-monthly interim screening blood tests may not be of independent benefit for cancer detection in LFS, but annual cancer screening and personalized follow-up remain essential.

全面的年度筛查可降低 Li-Fraumeni 综合征 (LFS) 的癌症相关死亡率，这是一种由致病性种系TP53引起的易患癌症的疾病变体。建议在每年筛查之间的第 4 个月和第 8 个月进行血液检查，但它们在早期癌症检测中的有效性尚未确定。在 132 名 LFS 患者（112 名成人，87 名女性，中位年龄 36 岁 [范围 3-68]，中位随访 37 个月 [范围 2-70]）中评估了中期血细胞计数和炎症生物标志物，并在225 (35%)。12 个人中的 13 例癌症在年度筛查之间被诊断出，但由于中期血液检查异常而仅诊断出一种癌症（结直肠腺癌）。Fisher 的精确检验和广义估计方程模型发现癌症诊断与任何检验异常之间没有统计关联。4 个月和 8 个月的中期筛查血液测试可能对 LFS 中的癌症检测没有独立的益处，