The role of methyltransferase setd2 in hematological malignancies / 肿瘤

ABSTRACT

[ABSTRACT] SET domain-containing protein 2 (SETD 2), an epigenetic gene encoding a tri-methyltransferase of histone H3 lysine 36 (H3K36), has been found to be recurrently mutated in a variety of malignancies in the past few decades. SETD2 mutation was firstly identified in solid tumors including renal clear cell carcinoma, glioma and breast cancer, then recently found in multiple hematological malignancies. Increasing evidences have revealed that SETD2 played a pivotal role in regulating the functions of hematopoietic stem cells and the normal development of hematopoietic system. Inactivating mutations of SETD2 can promote the pathogenesis of myeloid, lymphoid leukemia and lymphoma as well as the development of therapeutic resistance. Further elucidation of the molecular mechanisms underlying SETD2-associated hematological malignancies and drug resistance is of great significance for the innovations of diagnosis and treatment methods. In this review, the progress of SETD2 in hematological malignancies are elaborated.