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

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.

Automated summary

The ERCC excision repair 6 like 2 (ERCC6L2) gene encodes for helicase-like protein members of the Snf2 family involved in transcription-coupled nucleotide excision repair and cell proliferation. Mutations in this gene can lead to a bone marrow failure phenotype and increase the risk of developing acute myeloid leukemia. The disease has a high penetrance and raises important questions about treatment strategies and preemptive approaches.