@article{3104981,
    title = "Erdheim–chester disease and acute myeloid leukemia with mutated NPM1 in a patient with clonal hematopoiesis: A case report",
    author = "Papageorgiou, S.G. and Divane, A. and Roumelioti, M. and Kottaridi, C. and Bouchla, A. and Georgakopoulos, A. and Ieremiadou, F. and Daraki, A. and Bazani, E. and Thomopoulos, T.P. and Chatziioannou, S. and Mavrogenis, A. and Panayiotidis, P. and Panayiotides, I.G. and Pappa, V. and Foukas, P.G.",
    journal = "OncoTargets and therapy",
    year = "2020",
    volume = "13",
    pages = "11689-11695",
    publisher = "Dove Medical Press Ltd",
    doi = "10.2147/OTT.S276497",
    keywords = "alpha interferon;  B Raf kinase;  cytarabine;  idarubicin;  midostaurin;  nucleophosmin, acute myeloid leukemia;  adult;  Article;  bone marrow biopsy;  cancer combination chemotherapy;  capillary electrophoresis;  case report;  clinical article;  clinical feature;  clonal hematopoiesis;  continuous infusion;  copy number variation;  drug effect;  drug tolerability;  Erdheim Chester disease;  gene frequency;  heterozygosity loss;  high throughput sequencing;  human;  human tissue;  immunohistochemistry;  karyotype;  leukemia remission;  male;  minimal residual disease;  nonsense mutation;  NPM1 gene;  positron emission tomography-computed tomography;  pyrosequencing;  real time polymerase chain reaction",
    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 midos-taurin, 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 time-points, namely ECD diagnosis, AML diagnosis, and following treatment of AML, high-lighted 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 moder-ate response of ECD to midostaurin suggests that kinase inhibition might have a potential role in ECD treatment. © 2020 Papageorgiou et al."
}