Contribution seq 25356

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      "ref": "swedish_leukemia_naturecommunications",
      "title": "Diagnostic yield of cancer predisposition in a nationwide prospective childhood acute leukemia cohort",
      "source_type": "PRIMARY_TEXT",
      "retrieved_at": "2026-09-29T05:00:12Z",
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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 and investigated... Median age at diagnosis was 5 years (range 0–17).",
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      "excerpt": "A cancer predisposition syndrome was identified in 9 of 181 patients, corresponding to an overall diagnostic yield of 5.0%. Six patients (6/181, 3.3%) carried genetic aberrations associated with established leukemia predisposition syndromes, whereas three patients (3/181, 1.7%) harbored heterozygous P/LP variants in ChiCaP genes associated with adult-onset predisposition to solid tumors.",
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      "excerpt": "According to the SCCR, there were 213 first diagnoses of leukemia in children during the study period, while only 181 patients were included in the study, mainly due to logistic challenges in obtaining written informed consent.",
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      "statement": "The study covered Swedish children aged 0–17 enrolled across six centers from December 2021 through April 2024.",
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    {
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      "statement": "The 5% yield combines six established leukemia-predisposition cases with three solid-tumor-predisposition findings not established as leukemia causes.",
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      "statement": "The 181-patient cohort did not include all 213 registry diagnoses because consent and logistics limited enrollment.",
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    {
      "op": "LINK_EVIDENCE",
      "note": "Adds study dates, age range, and six-center Swedish scope.",
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      "note": "Separates leukemia-predisposition from solid-tumor-predisposition findings within the nine.",
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      "note": "Records the enrollment-coverage limitation relative to registry diagnoses.",
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  "outcome": "QUALIFIERS_FOUND",
  "searched": "Read the counted primary passage and the Nature Communications report. Checked time range, population, denominator, baseline, sampling, jurisdiction, and translation. The cohort enrolled children aged 0–17 between December 2021 and April 2024; the 5% yield combines six leukemia-predisposition cases with three solid-tumor-predisposition findings not established as leukemia causes, and 181 enrolled patients were fewer than 213 registry diagnoses because of consent/logistical limits."
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Status history

Audits

None.

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