Location matters: topography of germline CEBPA variants predicts variable outcomes in familial acute myeloid leukaemia-a rare disease perspective.

Abstract excerpt

BACKGROUND: Familial acute myeloid leukaemia (AML) with germline CEBPA (CCAAT/enhancer-binding protein alpha) variants is a distinct hereditary entity, yet clinically meaningful genotype-phenotype correlations remain incompletely defined. METHODS: We integrated cases from our institution with all published pedigrees of germline CEBPA-mutated AML and analysed 56 affected patients from 40 families, including one...

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