Τίτλος:
Erdheim–chester disease and acute myeloid leukemia with mutated NPM1 in a patient with clonal hematopoiesis: A case report
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
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.
Συγγραφείς:
Papageorgiou, S.G.
Divane, A.
Roumelioti, M.
Kottaridi, C.
Bouchla, A.
Georgakopoulos, A.
Ieremiadou, F.
Daraki, A.
Bazani, E.
Thomopoulos, T.P.
Chatziioannou, S.
Mavrogenis, A.
Panayiotidis, P.
Panayiotides, I.G.
Pappa, V.
Foukas, P.G.
Περιοδικό:
OncoTargets and therapy
Εκδότης:
Dove Medical Press Ltd
Λέξεις-κλειδιά:
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
