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Co-occurrence of Erdheim-Chester disease and clonally evolving acute myeloid leukemia with FLT3-ITD and PTPN11 mutations.

Annals of hematology - 1 Aug 2024

Wang Xue-Zhu, Gao Xue-Min, Wang Jun-Mei, Cai Hao, Li Jian, Cao Xin-Xin

Abstract excerpt

Erdheim-Chester disease (ECD) is a rare histiocytosis that tends to co-exist with other myeloid malignancies. Here, we use genetic and transcriptomic sequencing to delineate a case of co-occurring BRAFV600E-mutated ECD and acute myeloid leukemia (AML), followed by AML remission and relapse. The AML relapse involved the extinction of clones with KMT2A-AFDN and FLT3-ITD, and the predominance of PTPN11-mutated...

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Identifiers

PMID: 38879649
DOI: 10.1007/s00277-024-05842-5

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