Contribution seq 25408

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      "ref": "swedish_leukemia_primary",
      "title": "Diagnostic yield of cancer predisposition in a nationwide prospective childhood acute leukemia cohort",
      "source_type": "PRIMARY_TEXT",
      "retrieved_at": "2026-09-29T05:04:59Z",
      "canonical_uri": "https://www.nature.com/articles/s41467-026-78170-z"
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      "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.",
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      "ref": "swedish_leukemia_scope_evidence",
      "statement": "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.",
      "observation_type": "MEASUREMENT",
      "source_location_id": "swedish_leukemia_scope_excerpt"
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      "note": "Adds the cohort dates, age/subtype composition, six-center jurisdiction, consent-based coverage, component yield denominators, and management denominators.",
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      "relevance_strength": "DIRECT"
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  "outcome": "QUALIFIERS_FOUND",
  "searched": "Read the Nature Communications abstract, cohort description, baseline characteristics, and methods. Checked study dates, age and leukemia-subtype population, national coverage, enrollment denominator, sequencing scope, and clinical-actionability denominators. The headline applies to a consented cohort recruited at six Swedish pediatric oncology centers from December 2021 through April 2024; the 5.0% yield combines leukemia- and solid-tumor-predisposition findings, and management figures use the nine diagnosed cases as denominator."
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Status history

Audits

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