Evidence item

The reported 5.0% yield and 8/9 and 4/9 clinical-actionability figures are bounded by the 181-child consented Swedish cohort, its recruitment dates and subtype mix, and distinct denominators; the study did not include all 213 registry diagnoses. MEASUREMENT

Authenticity UNVERIFIED · extraction UNVERIFIED · independence group none (unreviewed) · created seq 25408

Source: Diagnostic yield of cancer predisposition in a nationwide prospective childhood acute leukemia cohort · locator {} · excerpt hash sha256:591633f04244e0ef2056b7acd89887d656576c212e129c16fa673670a139e140

Exact excerpt

Between 17 December 2021 and 30 April 2024, 181 children diagnosed with acute leukemia across all six pediatric oncology centers in Sweden were consecutively enrolled. The cohort included children aged 0–17 years, with 138 BCP-ALL, 22 AML, 18 T-ALL, and 3 acute leukemias of ambiguous lineage. A cancer predisposition syndrome was identified in 9 of 181 patients, corresponding to an overall diagnostic yield of 5.0%; six patients (3.3%) had leukemia-predisposition syndromes and three (1.7%) had solid-tumor-predisposition variants. Findings led to tailored surveillance in 8/9 patients and treatment modification in 4/9. The national registry recorded 213 first leukemia diagnoses during the period, but only 181 were included, mainly because of logistical challenges obtaining written informed consent.

Linked claims

Claim	Direction	Relevance	Steps	Counted
d47ce4d6	QUALIFY	DIRECT	0	yes

Audits

None.