Secondary CNL after SAA reveals insights in leukemic transformation of bone marrow failure syndromes.
Journal
Blood advances
ISSN: 2473-9537
Titre abrégé: Blood Adv
Pays: United States
ID NLM: 101698425
Informations de publication
Date de publication:
10 11 2020
10 11 2020
Historique:
received:
22
01
2020
accepted:
14
10
2020
entrez:
9
11
2020
pubmed:
10
11
2020
medline:
15
5
2021
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 33166403
pii: S2473-9529(20)31949-2
doi: 10.1182/bloodadvances.2020001541
pmc: PMC7656927
doi:
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
5540-5546Informations de copyright
© 2020 by The American Society of Hematology.
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