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ERCC6L2-related disease: a novel entity of bone marrow failure disorder with high risk of clonal evolution

Baccelli, Francesco, Leardini, Davide, Cerasi, Sara, Messelodi, Daria, Bertuccio, Salvatore Nicola, Masetti, Riccardo·2023·Annals of Hematology
DOI 10.1007/s00277-023-05128-2PMC PMC9998559
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Abstract

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.

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Fig. 1 Reported germline homozygous ERCC6L2 mutations. Red circles’ dimension indicates the relative prevalence of mutations
Fig. 1 Reported germline homozygous ERCC6L2 mutations. Red circles’ dimension indicates the relative prevalence of mutationsCC BY · PubMed Central
Fig. 2 Role of preemptive HSCT in ERCC6L2-related BMF. AML acute myeloid leukemia, BMF bone marrow failure, HSCT hematopoietic stem cell transplantation, pHSCT preemptive HSCT
Fig. 2 Role of preemptive HSCT in ERCC6L2-related BMF. AML acute myeloid leukemia, BMF bone marrow failure, HSCT hematopoietic stem cell transplantation, pHSCT preemptive HSCTCC BY · PubMed Central

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Research works printed but not linked: 30

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Metadata

Authors
Baccelli, F., Leardini, D., Cerasi, S., Messelodi, D., Bertuccio, S. N., & Masetti, R.
Venue
Annals of Hematology
Publisher
Springer Science and Business Media LLC
Published
2023-02-15
Volume
102
Issue
4
Pages
699-705
ISSN
  • 0939-5555
  • 1432-0584
DOI
10.1007/s00277-023-05128-2
PMC
PMC9998559
Cited by
21
References
0
Language
en
Licence
Funders
Alma Mater Studiorum - Università di Bologna

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CoChat. (2026). Citation check: ERCC6L2-related disease: a novel entity of bone marrow failure disorder with high risk of clonal evolution. https://app.cochat.ai/papers/10.1007/s00277-023-05128-2
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Baccelli, F., Leardini, D., Cerasi, S., Messelodi, D., Bertuccio, S. N., & Masetti, R. (2023). ERCC6L2-related disease: a novel entity of bone marrow failure disorder with high risk of clonal evolution. Annals of Hematology. https://doi.org/10.1007/s00277-023-05128-2