ERCC6L2-related disease: a novel entity of bone marrow failure disorder with high risk of clonal evolution.
Francesco BaccelliDavide LeardiniSara CerasiDaria MesselodiSalvatore Nicola BertuccioRiccardo MasettiPublished in: Annals of hematology (2023)
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.
Keyphrases
- bone marrow
- dna repair
- acute myeloid leukemia
- early stage
- cell proliferation
- patients undergoing
- mesenchymal stem cells
- dna damage
- gene expression
- type diabetes
- cell cycle
- squamous cell carcinoma
- transcription factor
- oxidative stress
- genome wide
- radiation therapy
- copy number
- skeletal muscle
- pi k akt
- signaling pathway
- rectal cancer
- drug induced