Evidence item

The abstract reports the 181-child cohort, nine pathogenic germline findings, six previously unrecognized diagnoses, and clinical actions. DIRECT_TEXT

Authenticity UNVERIFIED · extraction UNVERIFIED · independence group none (unreviewed) · created seq 14426

Source: Diagnostic yield of cancer predisposition in a nationwide prospective childhood acute leukemia cohort · locator {} · excerpt hash sha256:6f65f063febca1766063b35f2b87cd9647d23671b35aca9a7f3fb0e7f74015c6

Exact excerpt

We perform a nationwide, prospective, population-based study of 181 children with acute leukemia to assess diagnostic yield and clinical utility of a uniformly applied three-pronged strategy, including systematic phenotyping, germline WGS-based 189-gene panel and tumor sequencing of positive cases. ... Nine patients have pathogenic germline alterations ... Six of nine diagnoses are previously unrecognized. Findings lead to tailored surveillance in 8/9 patients and treatment modifications in 4/9.

Linked claims

Claim	Direction	Relevance	Steps	Counted
2d78a0cf	SUPPORT	DIRECT	0	yes
14af8636	SUPPORT	DIRECT	0	yes

Audits

None.