| Literature DB >> 33166403 |
Laurent Schmied1,2, Patricia A Olofsen3, Pontus Lundberg1, Alexandar Tzankov4, Martina Kleber1,2, Jörg Halter1, Mario Uhr5, Peter J M Valk3, Ivo P Touw3, Jakob Passweg1, Beatrice Drexler1.
Abstract
Acquired aplastic anemia and severe congenital neutropenia (SCN) are bone marrow (BM) failure syndromes of different origin, however, they share a common risk for secondary leukemic transformation. Here, we present a patient with severe aplastic anemia (SAA) evolving to secondary chronic neutrophilic leukemia (CNL; SAA-CNL). We show that SAA-CNL shares multiple somatic driver mutations in CSF3R, RUNX1, and EZH2/SUZ12 with cases of SCN that transformed to myelodysplastic syndrome or acute myeloid leukemia (AML). This molecular connection between SAA-CNL and SCN progressing to AML (SCN-AML) prompted us to perform a comparative transcriptome analysis on nonleukemic CD34high hematopoietic stem and progenitor cells, which showed transcriptional profiles that resemble indicative of interferon-driven proinflammatory responses. These findings provide further insights in the mechanisms underlying leukemic transformation in BM failure syndromes.Entities:
Mesh：
Year: 2020 PMID： 33166403 PMCID： PMC7656927 DOI： 10.1182/bloodadvances.2020001541
Source DB: PubMed Journal: Blood Adv ISSN： 2473-9529