Erdheim-Chester Disease and Acute Myeloid Leukemia with Mutated NPM1 in a Patient with Clonal Hematopoiesis: A Case Report.
Sotirios G PapageorgiouAspasia DivaneMaria RoumeliotiChristine KottaridiAnthi BouchlaAlexandros GeorgakopoulosFotini IeremiadouAggeliki DarakiEfthymia BazaniThomas P ThomopoulosSofia ChatziioannouAndreas F MavrogenisPanayiotis PanayiotidisIoannis G PanayiotidesVasiliki PappaPeriklis G FoukasPublished in: OncoTargets and therapy (2020)
This case report suggests that ECD and AML might represent an expansion of two distinct clones in a background of clonal hematopoiesis, indicating their shared origin. Moreover, molecular karyotype might serve as a strong, inexpensive tool for revealing clonal hematopoiesis in cases of negative targeted next-generation sequencing. Finally, the moderate response of ECD to midostaurin suggests that kinase inhibition might have a potential role in ECD treatment.