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 BRAFV600E 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 partial metabolic response. Molecular karyotype at several distinct timepoints, namely ECD diagnosis, AML diagnosis, and following treatment of AML, highlighted a molecular signature, indicative of a persistent, underlying clonal hematopoiesis. Conclusion: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.

journal_name

Onco Targets Ther

journal_title

OncoTargets and therapy

authors

Papageorgiou SG,Divane A,Roumelioti M,Kottaridi C,Bouchla A,Georgakopoulos A,Ieremiadou F,Daraki A,Bazani E,Thomopoulos TP,Chatziioannou S,Mavrogenis A,Panayiotidis P,Panayiotides IG,Pappa V,Foukas PG

doi

10.2147/OTT.S276497

subject

Has Abstract

pub_date

2020-11-16 00:00:00

pages

11689-11695

issn

1178-6930

pii

276497

journal_volume

13

pub_type

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    authors:

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