Curious cases of GATA2 deficiency: clonal evolution or dual diagnoses?

Clinical Immunology(2023)

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摘要
GATA2 deficiency can often predispose individuals to hematologic malignancies. While many pathogenic/likely pathogenic germline variants have been characterized in GATA2 deficiency, less is known about other variants that arise during clonal evolution of hematologic malignancies or as potential dual diagnoses in these patients. Here, we present two cases enrolled in the NIAID Centralized Sequencing Program with GATA2 variants and additional pathogenic/likely pathogenic variants in WT1 and KRAS detected via genome sequencing.
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关键词
GATA2, Hematologic malignancy, Genome, NGS
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