ERCC6L2-related disease: a novel entity of bone marrow failure disorder with high risk of clonal evolution.
Acute myeloid leukemia
Cancer predisposition
ERCC6L2
Hematopoietic stem cell transplantation
Myelodysplastic syndrome
Journal
Annals of hematology
ISSN: 1432-0584
Titre abrégé: Ann Hematol
Pays: Germany
ID NLM: 9107334
Informations de publication
Date de publication:
Apr 2023
Apr 2023
Historique:
received:
23
11
2022
accepted:
03
02
2023
pubmed:
16
2
2023
medline:
14
3
2023
entrez:
15
2
2023
Statut:
ppublish
Résumé
ERCC excision repair 6 like 2 (ERCC6L2) gene encodes for different helicase-like protein members of the Snf2 family involved in transcription-coupled nucleotide excision repair and in cell proliferation. Germline homozygous mutations in children and adults predispose to a peculiar bone marrow failure phenotype characterized by mild hematological alterations with a high risk of developing acute myeloid leukemia. The outcome for patients with leukemia progression is dismal while patients undergoing hematopoietic stem cell transplantation in the early stage have better outcomes. The ERCC6L2-related hematological disease presents a high penetrance, posing important questions regarding the treatment strategies and possible preemptive approaches. This review describes the biological function of ERCC6L2 and the clinical manifestations of the associated disease, trying to focus on the unsolved clinical questions.
Identifiants
pubmed: 36790458
doi: 10.1007/s00277-023-05128-2
pii: 10.1007/s00277-023-05128-2
pmc: PMC9998559
doi:
Substances chimiques
ERCC6L2 protein, human
EC 3.6.4.12
DNA Helicases
EC 3.6.4.-
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
699-705Informations de copyright
© 2023. The Author(s).
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