Article

Distinct Stem Cell Identities Converge into Shared Erythroid Stress in ERCC6L2 Disease and Shwachman-Diamond Syndrome

2025-09-12

Abstract excerpt

ERCC6L2 disease (ED) is a rare bone marrow failure syndrome caused by biallelic germline mutations in ERCC6L2 . ED leads to accumulation of somatic TP53 mutations, myelodysplastic syndrome, and acute myeloid leukemia (AML) with erythroid predominance and poor prognosis. Given the global challenge of treating TP53 -mutated AML, ED provides a unique opportunity to study early events leading to high-risk leukemia. Wh...

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Literature Corpus work: 97de8461-fcf9-5b2e-94f8-37d6e4ee39e0
DOI: 10.1101/2025.09.11.25335313

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