Erdheim-Chester Disease and Acute Myeloid Leukemia with Mutated NPM1 in a Patient with Clonal Hematopoiesis: A Case Report.

ABSTRACT:

Background

Erdheim-Chester Disease (ECD) is a clonal non-Langerhans histiocytosis, classified as a macrophage-dendritic cell neoplasm in the 2016 WHO classification. The exact cell of origin of ECD is unknown, although some limited evidence suggests that it arises from myeloid progenitors.

Case presentation

A 43-year-old patient, diagnosed with BRAF ^V600E mutated ECD, developed NPM1⁺/FLT3⁺ acute myeloid leukemia (AML) with wild-type BRAF, 15 months after the initial ECD diagnosis. The patient received intensive chemotherapy plus midostaurin, followed by midostaurin maintenance. Six months into maintenance, the patient remains in complete remission with low-level measurable residual disease, whereas ECD shows a sustained p

SUBMITTER: Papageorgiou SG 

PROVIDER: S-EPMC7678692 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature